P55072
PR
Gene name |
VCP |
Protein name |
Transitional endoplasmic reticulum ATPase |
Names |
TER ATPase, 15S Mg(2+)-ATPase p97 subunit, Valosin-containing protein, VCP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7415 |
EC number |
3.6.4.6: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
102 structures for P55072
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EBB | X-ray | 190 A | E/F/G/H | 797-806 | PDB |
| 3HU1 | X-ray | 281 A | A/B/C/D/E/F | 1-481 | PDB |
| 3HU2 | X-ray | 285 A | A/B/C/D/E/F | 1-481 | PDB |
| 3HU3 | X-ray | 220 A | A/B | 1-481 | PDB |
| 3QC8 | X-ray | 220 A | A | 21-196 | PDB |
| 3QQ7 | X-ray | 265 A | A | 2-187 | PDB |
| 3QQ8 | X-ray | 200 A | A | 2-187 | PDB |
| 3QWZ | X-ray | 200 A | A | 1-208 | PDB |
| 3TIW | X-ray | 180 A | A/B | 1-187 | PDB |
| 4KDI | X-ray | 186 A | A/B | 21-196 | PDB |
| 4KDL | X-ray | 181 A | A | 21-196 | PDB |
| 4KLN | X-ray | 262 A | A/B/C/D/E/F | 1-481 | PDB |
| 4KO8 | X-ray | 198 A | A/B | 1-481 | PDB |
| 4KOD | X-ray | 296 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-481 | PDB |
| 4P0A | X-ray | 230 A | B/D | 797-806 | PDB |
| 5B6C | X-ray | 155 A | A | 21-191 | PDB |
| 5C18 | X-ray | 330 A | A/B/C/D/E/F | 2-806 | PDB |
| 5C19 | X-ray | 420 A | A/B/C/D/E/F | 2-806 | PDB |
| 5C1A | X-ray | 380 A | A/B/C/D/E/F/G/H/I/J/K/L | 2-806 | PDB |
| 5C1B | X-ray | 308 A | A/B/C/D/E/F | 2-806 | PDB |
| 5DYG | X-ray | 220 A | A | 1-460 | PDB |
| 5DYI | X-ray | 371 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-481 | PDB |
| 5EPP | X-ray | 188 A | A | 21-199 | PDB |
| 5FTJ | EM | 230 A | A/B/C/D/E/F | 1-806 | PDB |
| 5FTK | EM | 240 A | A/B/C/D/E/F | 1-806 | PDB |
| 5FTL | EM | 330 A | A/B/C/D/E/F | 1-806 | PDB |
| 5FTM | EM | 320 A | A/B/C/D/E/F | 1-806 | PDB |
| 5FTN | EM | 330 A | A/B/C/D/E/F | 1-806 | PDB |
| 5GLF | X-ray | 225 A | A/C/E/G | 21-199 | PDB |
| 5IFS | X-ray | 246 A | B/D | 1-481 | PDB |
| 5IFW | X-ray | 340 A | B | 2-806 | PDB |
| 5KIW | X-ray | 341 A | A/B | 1-460 | PDB |
| 5KIY | X-ray | 279 A | A | 1-460 | PDB |
| 5X4L | X-ray | 240 A | A/B | 23-196 | PDB |
| 6G2V | X-ray | 190 A | A | 462-764 | PDB |
| 6G2W | X-ray | 268 A | A | 462-764 | PDB |
| 6G2X | X-ray | 208 A | A | 462-764 | PDB |
| 6G2Y | X-ray | 215 A | A | 462-764 | PDB |
| 6G2Z | X-ray | 192 A | A | 462-764 | PDB |
| 6G30 | X-ray | 242 A | A | 462-764 | PDB |
| 6HD0 | X-ray | 373 A | A/B/C/T/U/V | 1-481 | PDB |
| 6MCK | X-ray | 377 A | A/B/C/D/E/F/G/H/I/J/K/L | 210-806 | PDB |
| 7BP8 | EM | 390 A | A/B/C/D/E/F | 1-806 | PDB |
| 7BP9 | EM | 360 A | A/B/C/D/E/F | 1-806 | PDB |
| 7BPA | EM | 330 A | A/B/C/D/E/F | 1-806 | PDB |
| 7BPB | EM | 430 A | A/B/C/D/E/F | 1-806 | PDB |
| 7JY5 | EM | 289 A | A/B/C/D/E/F | 1-806 | PDB |
| 7K56 | EM | 390 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-806 | PDB |
| 7K57 | EM | 370 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-806 | PDB |
| 7K59 | EM | 420 A | A/B/C/D/E/F | 1-806 | PDB |
| 7L5W | EM | 334 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-806 | PDB |
| 7L5X | EM | 610 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-806 | PDB |
| 7LMY | EM | 240 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LMZ | EM | 306 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LN0 | EM | 298 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LN1 | EM | 340 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LN2 | EM | 363 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LN3 | EM | 345 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LN4 | EM | 300 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LN5 | EM | 309 A | A/B/C/D/E/F | 1-806 | PDB |
| 7LN6 | EM | 358 A | A/B/C/D/E/F | 1-806 | PDB |
| 7MDM | EM | 486 A | A/B/C/D/E/F | 1-806 | PDB |
| 7MDO | EM | 412 A | A/B/C/D/E/F | 1-806 | PDB |
| 7MHS | EM | 360 A | A/B/C/D/E | 1-806 | PDB |
| 7OAT | X-ray | 300 A | B | 2-480 | PDB |
| 7PUX | X-ray | 173 A | A | 1-460 | PDB |
| 7R7S | EM | 423 A | A/B/C/D/E/F | 1-806 | PDB |
| 7R7T | EM | 450 A | A/B/C/D/E/F | 1-806 | PDB |
| 7R7U | EM | 430 A | A/B/C/D/E/F | 1-806 | PDB |
| 7RL6 | EM | 370 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RL7 | EM | 300 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RL9 | EM | 330 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RLA | EM | 310 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RLB | EM | 330 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RLC | EM | 320 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RLD | EM | 340 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RLF | EM | 310 A | A/B/C/D/E/F | 1-806 | PDB |
| 7RLG | EM | 370 A | A/B/C/D/E/F | 2-806 | PDB |
| 7RLH | EM | 300 A | A/B/C/D/E/F | 1-806 | PDB |
| 7RLI | EM | 310 A | A/B/C/D/E/F/G/H/I/J/K/L | 2-806 | PDB |
| 7RLJ | EM | 380 A | A/B/C/D/E/F/G/H/I/J/K/L | 21-775 | PDB |
| 7VCS | EM | 332 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-806 | PDB |
| 7VCT | EM | 321 A | A/B/C/D/E/F | 1-806 | PDB |
| 7VCU | EM | 315 A | A/B/C/D/E/F/G/H/I/J/K/L | 1-806 | PDB |
| 7VCV | EM | 321 A | A/B/C/D/E/F | 1-806 | PDB |
| 7VCX | EM | 324 A | A/B/C/D/E/F | 1-806 | PDB |
| 7Y4W | EM | 367 A | A/B/C/D/E/F | 21-806 | PDB |
| 7Y53 | EM | 361 A | A/B/C/D/E/F | 21-806 | PDB |
| 7Y59 | EM | 451 A | A/B/C/D/E/F | 21-806 | PDB |
| 8B5R | EM | 610 A | A/B/C/D/E/F | 2-806 | PDB |
| 8FCL | EM | 351 A | A/B/C/D/E/F | 1-806 | PDB |
| 8FCM | EM | 327 A | A/B/C/D/E/F | 1-806 | PDB |
| 8FCN | EM | 295 A | A/B/C/D/E/F | 1-806 | PDB |
| 8FCO | EM | 331 A | A/B/C/D/E/F | 1-806 | PDB |
| 8FCP | EM | 352 A | A/B/C/D/E/F | 1-806 | PDB |
| 8FCQ | EM | 393 A | A/B/C/D/E/F | 1-806 | PDB |
| 8FCR | EM | 412 A | A/B/C/D/E/F | 1-806 | PDB |
| 8FCT | EM | 342 A | A/B/C/D/E/F | 1-806 | PDB |
| 8HL7 | X-ray | 280 A | B | 23-458 | PDB |
| 8HRZ | X-ray | 270 A | A/B/C/D/E/F/G/H/I/J/K/L | 21-458 | PDB |
| 8OOI | EM | 261 A | A/B/C/D/E/F | 1-806 | PDB |
| AF-P55072-F1 | Predicted | AlphaFoldDB |
307 variants for P55072
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1828874096 RCV001198195 |
10 | D>E | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002555974 RCV001095442 RCV001196071 rs1219381953 CA373295294 |
14 | T>I | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001168987 RCV001642885 RCV000390549 RCV001252623 RCV002418113 CA5039558 RCV000639655 RCV001168490 rs140913250 |
27 | I>V | Intellectual disability Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1828872947 RCV001319074 |
32 | I>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000351753 RCV000396114 rs886063892 CA10633918 |
62 | K>R | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313680 rs746810092 CA5039528 RCV003222301 |
79 | D>E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1828865320 RCV001308126 |
89 | R>W | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1828865209 RCV001325031 |
90 | N>D | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225291 RCV000201935 RCV001271088 CA279635 RCV002519583 RCV001271081 |
91 | N>Y | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA373293400 RCV002233733 rs1554669087 RCV000728008 |
93 | R>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000520021 rs779959657 CA5039527 RCV002231635 |
93 | R>H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121909332 RCV001095441 CA10603200 RCV000761344 RCV001391611 RCV001215048 RCV000280148 RCV002436094 |
95 | R>C | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Amyotrophic lateral sclerosis Spastic paraplegia Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121909332 VAR_033016 RCV000008992 CA254402 |
95 | R>G | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 IBMPFD1; cultured cells expressing the mutant protein show a marked general increase in the level of ubiquitin-conjugated proteins and impaired protein degradation through the endoplasmic reticulum-associated degradation (ERAD) pathway; shows strongly reduced affinity for ADP and increased affinity for ATP; abolishes enhancement of K-315 methylation by ASPSCR1; decreased interaction with CAV1 and UBXN6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA373293355 RCV001046936 RCV000731593 rs758169026 |
95 | R>P | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000202492 rs864309502 VAR_076464 CA213389 RCV001853259 |
97 | G>E | Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 CMT2Y; increased ATPase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001253196 rs1828864269 |
98 | D>E | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1828842736 RCV001234395 |
105 | C>R | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1563980440 CA373292638 RCV002233639 |
107 | D>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752038734 RCV001347828 CA5039499 |
111 | G>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001168240 rs766787045 CA5039498 RCV001168241 |
112 | K>R | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000801185 CA5039496 RCV000733637 rs549915384 RCV002332532 |
114 | I>V | Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002233201 rs1563980403 CA373292088 RCV001809749 |
125 | G>D | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_076465 | 126 | I>F | IBMPFD1; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1828841085 RCV001212180 |
126 | I>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002357086 RCV003135925 RCV001296826 rs1828840466 |
134 | Y>C | Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA192682504 rs866101707 RCV000736269 |
137 | P>S | Alzheimer disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1828808459 RCV001212890 |
151 | I>M | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1587127201 CA373289681 RCV001312665 |
154 | V>F | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA254398 rs121909330 RCV000008990 RCV001095424 VAR_033017 RCV000685660 RCV000372207 |
155 | R>C | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Variant assessed as Somatic; impact. Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 IBMPFD1; also in one patient without evidence of Paget disease of the bone [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs121909330 RCV000494556 CA277489 RCV002229498 RCV000196145 |
155 | R>G | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000540496 VAR_033018 RCV002336080 RCV000523065 RCV000008989 rs121909329 RCV001271089 CA128983 |
155 | R>H | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 FTDALS6 and IBMPFD1; properly assembles into a hexameric structure; cultured cells expressing the mutant protein show a marked general increase in the level of ubiquitin-conjugated proteins and impaired protein degradation through the endoplasmic reticulum-associated degradation (ERAD) pathway; shows strongly reduced affinity for ADP and increased affinity for ATP; shows normal ATPase activity according to PubMed:16321991 while according to PubMed:25878907 and PubMed:25125609 shows increased ATPase activity; no defect in ubiquitin-dependent protein degradation by the proteasome; impaired autophagic function; defective maturation of ubiquitin-containing autophagosomes; decreased interaction with CAV1 and UBXN6; decreased endosome to lysosome transport via multivesicular body sorting pathway of CAV1; decreases the arsenite-induced stress granules (SGs) clearance process [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_078910 CA373289634 rs121909329 |
155 | R>L | IBMPFD1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV003137504 RCV001387337 RCV000008993 CA254404 VAR_033019 rs121909329 |
155 | R>P | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 IBMPFD1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121909330 CA373289661 VAR_076466 |
155 | R>S | IBMPFD1; impaired autophagic function [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA5039453 RCV001095425 RCV002229732 rs387906789 RCV000333881 |
159 | R>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_065910 RCV000023065 CA259748 rs387906789 |
159 | R>G | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 FTDALS6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs121909335 RCV000008995 VAR_033020 RCV000639653 RCV000276565 CA254408 |
159 | R>H | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 IBMPFD1; without frontotemporal dementia; abolishes enhancement of K-315 methylation by ASPSCR1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001271083 rs387906789 |
159 | R>S | Amyotrophic lateral sclerosis type 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA373289512 RCV000639654 RCV001535609 RCV000993545 rs1554668805 |
160 | A>P | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554668804 CA373289480 RCV002233477 |
160 | A>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200911363 CA5039451 RCV000793063 |
171 | S>I | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1828806031 RCV001212543 |
175 | I>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202444 RCV002345722 CA213386 rs864309501 RCV002229147 VAR_076467 |
185 | E>K | Charcot-Marie-Tooth disease type 2Y Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 CMT2Y; normal ATPase activity; impaired autophagic function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001095426 rs121909334 |
191 | R>P | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555373 CA254406 RCV002496309 rs121909334 RCV000023064 RCV000008994 VAR_033021 RCV000516636 |
191 | R>Q | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 FTDALS6 and IBMPFD1; abolishes enhancement of K-315 methylation by ASPSCR1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA373287170 rs748447593 VAR_076468 |
198 | L>W | IBMPFD1; increased ATPase activity; impaired autophagic function [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001038094 rs1828783140 RCV002463580 |
216 | I>M | Lewy body dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000008991 VAR_033022 RCV001172005 rs121909331 CA254400 |
232 | A>E | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 IBMPFD1; increased ATPase activity; no defect in ubiquitin-dependent protein degradation by the proteasome; impaired autophagic function; defect in maturation of ubiquitin-containing autophagosomes; decreased interaction with CAV1 and UBXN6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001167607 RCV001167606 RCV001664718 rs750335399 CA5039411 RCV001220592 |
233 | I>V | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001217063 rs1828757317 |
256 | R>Q | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1828756507 RCV001167605 RCV001167604 |
265 | F>S | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050288 rs1828737891 |
332 | M>T | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002471052 rs1828723406 RCV001237563 RCV001760253 |
369 | I>T | Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003135972 rs1828722725 RCV001322715 |
382 | Q>E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA373283085 RCV001346989 RCV000729360 rs1563977665 |
386 | K>E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA373283063 VAR_078911 rs1554668420 |
387 | N>H | IBMPFD1; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs1587122661 CA373282946 RCV002234843 |
394 | V>M | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001271084 rs1828721782 |
395 | D>G | FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1270181 RCV000534353 RCV002350262 CA5039291 rs148329626 RCV001579523 |
401 | N>S | oesophagus breast Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA373282019 COSM753542 RCV000779579 rs955652521 |
440 | E>* | lung VCP-Related Disorders [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001343566 CA192680178 rs955652521 |
440 | E>K | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1828712085 RCV001234713 |
442 | M>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770514866 RCV000639652 CA5039281 |
443 | N>H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001095775 rs1828711704 |
450 | D>V | VCP-related multisystem proteinopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000449528 rs1060499674 CA16609414 |
458 | Q>H | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA373280841 RCV000595705 RCV001860219 rs1554668345 |
478 | D>G | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA128985 VAR_065911 rs387906790 RCV000023066 |
592 | D>N | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 FTDALS6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002409141 rs751290466 RCV002065572 |
616 | N>missing | Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10633605 rs886063891 RCV000306523 RCV000352284 |
619 | I>T | Amyotrophic Lateral Sclerosis, Dominant Inclusion Body Myopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1828681453 RCV001248579 |
622 | A>S | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5039164 rs765795425 RCV003140101 RCV002233265 |
662 | R>C | Variant assessed as Somatic; 0.0 impact. Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754268174 RCV001051610 CA5039162 |
666 | V>I | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000801506 CA5039143 rs757829124 |
672 | L>V | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746617777 CA5039128 RCV001343252 |
709 | R>Q | Variant assessed as Somatic; 0.0 impact. Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs779670266 CA5039127 RCV001241484 RCV002418829 |
711 | R>Q | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5039099 RCV001224616 rs758602597 |
732 | R>C | Variant assessed as Somatic; 0.0 impact. Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs771662410 CA5039092 RCV001039023 |
743 | A>V | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1828632660 RCV001210057 |
748 | S>C | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA373269461 RCV002235557 rs1587117319 |
756 | E>K | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1828626335 RCV001035947 RCV003141942 |
782 | G>A | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002233165 CA373267911 rs1329151473 |
799 | D>E | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1191632244 CA373297879 |
2 | A>S | No |
ClinGen gnomAD |
|
|
rs767081097 CA373297821 |
4 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767081097 CA5039583 |
4 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587135687 CA373297792 |
5 | A>V | No |
ClinGen Ensembl |
|
|
CA5039562 rs751227891 |
9 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1051383927 CA192683370 |
10 | D>G | No |
ClinGen Ensembl |
|
|
TCGA novel CA373295364 rs1587130735 |
11 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
rs932872788 CA192683355 |
11 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5039560 rs553273871 |
19 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398452987 CA373295185 |
20 | K>N | No |
ClinGen gnomAD |
|
|
CA373295168 rs1409460709 |
21 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373295149 rs1158843378 |
22 | R>C | No |
ClinGen gnomAD |
|
|
CA373295116 rs1190481931 |
25 | R>Q | No |
ClinGen TOPMed |
|
|
CA192683344 rs920962883 |
25 | R>W | No |
ClinGen TOPMed |
|
|
rs1480586527 CA373295071 |
28 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351617227 CA373294931 |
33 | N>S | No |
ClinGen gnomAD |
|
|
rs1238589369 CA373294703 |
42 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 49 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458088202 CA373294504 |
50 | Q>R | No |
ClinGen gnomAD |
|
|
CA5039536 rs774641311 |
53 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA373294459 rs1170154132 |
53 | R>Q | No |
ClinGen gnomAD |
|
|
rs1224146431 CA373294414 |
55 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 63 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5039533 rs773319803 |
66 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1487979155 CA373294123 |
67 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs748091463 CA5039531 COSM1108577 |
71 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5039530 rs781182130 |
77 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs754802166 CA5039529 |
77 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373293873 rs1252437282 |
78 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 84 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866052069 CA192683161 |
86 | R>* | No |
ClinGen Ensembl |
|
|
rs900105227 CA192683160 |
89 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1038579230 CA192683153 |
94 | V>L | No |
ClinGen Ensembl |
|
|
CA5039526 rs758169026 |
95 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753221407 CA192683120 |
100 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753221407 CA5039522 |
100 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1412496313 CA373292806 |
102 | I>T | No |
ClinGen gnomAD |
|
|
CA373292756 rs755519508 CA5039500 |
103 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA373292746 rs1186937475 |
104 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 110 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776815786 CA5039493 |
119 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287162663 CA373292022 |
127 | T>A | No |
ClinGen gnomAD |
|
|
rs1554668979 CA373291969 RCV000498690 |
128 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775567003 CA373291852 |
133 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775567003 CA373291849 CA5039490 |
133 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA192682499 rs868435969 |
137 | P>L | No |
ClinGen Ensembl |
|
|
rs866582683 CA192682488 |
144 | R>Q | No |
ClinGen Ensembl |
|
|
rs1315819281 CA373291389 |
147 | R>W | No |
ClinGen TOPMed |
|
|
CA5039484 rs775948048 |
149 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA192681647 rs367881889 |
151 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1554668817 CA373289624 |
156 | G>S | No |
ClinGen Ensembl |
|
|
CA373289608 rs1554668814 CA373289597 RCV001091822 |
157 | G>R | No |
ClinGen Ensembl ClinVar dbSNP |
|
|
CA373289580 rs1554668813 |
158 | M>V | No |
ClinGen Ensembl |
|
|
rs974794063 CA192681619 |
165 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200911363 CA5039452 |
171 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766261105 CA5039450 |
173 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1587127096 CA373289184 |
173 | Y>H | No |
ClinGen Ensembl |
|
|
CA373288923 rs1275676999 |
181 | V>L | No |
ClinGen gnomAD |
|
|
RCV000730388 CA373288786 rs1333833979 |
185 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1410410076 CA373288733 |
188 | P>H | No |
ClinGen gnomAD |
|
|
CA373288740 rs1309590903 |
188 | P>S | No |
ClinGen gnomAD |
|
|
rs747754993 CA5039446 |
189 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5039445 rs776154559 |
190 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748447593 CA5039417 |
198 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432268135 CA373287098 |
201 | V>A | No |
ClinGen gnomAD |
|
|
CA373286978 rs1554668715 |
206 | I>F | No |
ClinGen Ensembl |
|
|
CA5039414 rs751610041 |
216 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373286682 COSM3848449 rs1587125978 |
220 | V>G | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1327372007 CA373286640 |
227 | P>S | No |
ClinGen TOPMed |
|
|
CA373286636 rs1415198651 |
228 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1302976833 CA373286517 |
244 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5039385 rs759122055 |
246 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554668602 CA373286488 |
249 | T>K | No |
ClinGen Ensembl |
|
|
CA373286398 rs1309095254 |
258 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373286372 rs1554668598 |
262 | T>A | No |
ClinGen Ensembl |
|
|
CA373286369 rs1554668595 |
262 | T>S | No |
ClinGen Ensembl |
|
|
CA373286322 rs1554668591 |
269 | I>F | No |
ClinGen Ensembl |
|
|
CA373286319 rs1554668589 |
269 | I>S | No |
ClinGen Ensembl |
|
|
rs1064796741 CA16618852 RCV000483569 |
271 | G>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1554668502 CA373286181 RCV000518809 |
276 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1244760473 CA373286132 |
279 | A>T | No |
ClinGen gnomAD |
|
|
CA5039357 rs772315780 |
284 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA373286007 RCV000658477 rs1554668497 |
287 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA373285983 rs1554668496 |
289 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 292 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338553913 CA373285799 |
301 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373285361 rs1200962823 |
303 | I>V | No |
ClinGen TOPMed |
|
|
rs1165320538 CA373285035 |
315 | K>R | No |
ClinGen gnomAD |
|
|
CA5039343 rs757918758 |
325 | V>I | No |
ClinGen ExAC |
|
|
CA373284615 rs1429025001 |
333 | D>H | No |
ClinGen gnomAD |
|
|
CA192680455 rs1013655779 |
337 | Q>R | No |
ClinGen Ensembl |
|
|
rs761051164 CA5039340 |
339 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA373284394 rs1376746327 |
342 | I>M | No |
ClinGen gnomAD |
|
|
rs1196247119 CA373284304 |
346 | A>G | No |
ClinGen gnomAD |
|
|
rs1254487580 CA373284224 |
350 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 352 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747902669 COSM1462187 CA192680446 |
352 | S>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA373284137 rs1276476611 |
353 | I>T | No |
ClinGen TOPMed |
|
|
rs1269871658 CA373284108 |
355 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10605559 rs886043471 RCV000284424 |
374 | A>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs886043471 CA373283400 |
374 | A>G | No |
ClinGen gnomAD |
|
|
rs1471929394 CA373283412 |
374 | A>T | No |
ClinGen gnomAD |
|
|
CA373283399 rs886043471 |
374 | A>V | No |
ClinGen gnomAD |
|
|
rs1331604813 CA373283378 |
375 | T>I | No |
ClinGen gnomAD |
|
|
rs1251256829 CA373283324 |
377 | R>C | No |
ClinGen TOPMed |
|
|
CA373283310 rs1415623982 |
377 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1457093327 CA373283246 |
380 | I>V | No |
ClinGen gnomAD |
|
|
RCV001311774 rs1828722595 |
385 | T>A | No |
ClinVar dbSNP |
|
|
rs1410177803 CA373283057 |
387 | N>S | No |
ClinGen gnomAD |
|
|
rs1410177803 CA373283055 RCV000517850 |
387 | N>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5039307 rs761895823 |
388 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA373282960 rs1470792208 |
393 | D>A | No |
ClinGen gnomAD |
|
|
rs768643940 CA5039305 |
395 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA192680303 rs746717302 |
397 | E>K | No |
ClinGen gnomAD |
|
|
CA373282906 rs746717302 |
397 | E>Q | No |
ClinGen gnomAD |
|
|
CA5039292 rs758694686 |
399 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1414809572 CA373282781 |
401 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359620830 CA373282728 |
404 | H>P | No |
ClinGen gnomAD |
|
|
CA5039285 rs775408796 |
419 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA373282221 rs771751916 |
432 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5039284 rs771751916 |
432 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186780925 CA5039283 |
436 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373282099 rs1392284756 |
437 | I>V | No |
ClinGen gnomAD |
|
|
CA373282040 rs1554668368 |
439 | A>P | No |
ClinGen Ensembl |
|
|
rs1554668368 CA373282037 |
439 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777223220 CA5039279 |
452 | F>C | No |
ClinGen ExAC |
|
|
CA5039278 rs755519450 |
453 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs772569728 CA5039258 |
465 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1056112786 CA192680116 |
466 | E>V | No |
ClinGen Ensembl |
|
|
rs779392075 CA5039256 |
468 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373280828 rs1180007490 |
479 | I>V | No |
ClinGen gnomAD |
|
|
rs1251080168 CA373280799 |
480 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 485 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5039252 rs375649091 |
486 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5039251 rs752765916 |
487 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767379602 CA5039250 |
487 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 500 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773673950 CA5039218 |
508 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1430706449 CA373279961 |
508 | M>L | No |
ClinGen gnomAD |
|
|
rs1430706449 CA373279957 |
508 | M>V | No |
ClinGen gnomAD |
|
|
CA373279888 rs1458481328 |
510 | P>L | No |
ClinGen gnomAD |
|
|
rs1389575996 CA373279850 |
512 | K>R | No |
ClinGen gnomAD |
|
|
CA192679965 rs77248841 |
524 | K>E | No |
ClinGen Ensembl |
|
|
CA5039212 rs779975862 |
534 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000497568 rs1554668287 CA373279335 |
538 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765061140 CA5039209 |
540 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1563976782 CA373279265 |
543 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 545 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5039207 rs753528183 |
550 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5039208 rs753528183 |
550 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 558 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192679710 rs201431036 |
567 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs866287267 CA192679701 |
582 | I>V | No |
ClinGen Ensembl |
|
|
rs776808332 CA5039181 |
590 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA373276541 rs1255802734 |
590 | I>V | No |
ClinGen gnomAD |
|
|
CA373276470 rs387906790 |
592 | D>H | No |
ClinGen gnomAD |
|
|
rs890637602 CA192679693 |
597 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 603 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373275999 rs1385326324 |
611 | M>T | No |
ClinGen TOPMed |
|
|
CA373275940 rs775606754 |
613 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5039178 rs775606754 |
613 | T>R | No |
ClinGen ExAC gnomAD |
|
| rs751290466 | 616 | N>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373275767 rs1457011497 |
619 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 625 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373275428 rs1587120235 |
634 | L>F | No |
ClinGen Ensembl |
|
|
rs1207909368 CA373275276 |
643 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 644 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 648 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 648 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868678589 CA192679674 |
648 | P>S | No |
ClinGen Ensembl |
|
|
rs200169287 CA5039167 |
653 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200169287 CA5039166 |
653 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373274883 rs1284380722 RCV000714166 |
658 | K>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs762185724 CA5039163 |
662 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955893615 CA192679522 |
674 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 678 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5039142 rs754299259 |
678 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1587119721 CA373274053 |
686 | D>A | No |
ClinGen Ensembl |
|
|
CA5039138 rs767762212 |
687 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1205247470 CA373273950 |
690 | I>V | No |
ClinGen TOPMed |
|
|
rs1490390928 RCV000523151 CA373273844 |
693 | R>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 694 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5039132 rs769793706 |
698 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5039131 rs747975110 |
699 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1202389474 CA373273676 |
700 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 700 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373273584 COSM1108557 rs1323248315 |
704 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
RCV000592679 rs1000496477 CA192679485 |
707 | I>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA5039129 rs768462341 |
707 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1346289873 CA373273395 |
710 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 712 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373273203 rs1440024182 |
717 | P>S | No |
ClinGen gnomAD |
|
|
CA373273175 rs1356518831 |
718 | S>L | No |
ClinGen gnomAD |
|
|
rs11546022 CA192678588 |
729 | P>L | No |
ClinGen Ensembl |
|
|
rs373800909 CA5039101 |
730 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5039098 rs750571188 |
732 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA192678565 rs1027386475 |
733 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5039095 rs764036918 |
741 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM3703549 rs760411781 CA5039094 |
741 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773912640 CA5039090 |
744 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA192678532 rs866959068 |
746 | S>F | No |
ClinGen Ensembl |
|
|
CA5039088 rs748732505 |
750 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411139426 CA373269454 |
756 | E>A | No |
ClinGen gnomAD |
|
|
CA5039086 rs769153776 |
759 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 763 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373269179 rs1383633787 |
766 | R>W | No |
ClinGen gnomAD |
|
|
rs772558871 CA5039066 |
778 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746167710 CA5039065 |
780 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 787 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 790 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5039064 rs779301958 |
792 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757516574 CA5039063 |
793 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5039062 rs749367752 |
794 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs777887584 CA192678390 |
796 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 797 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA192678383 rs111903589 |
799 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 801 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221389724 CA373267706 |
806 | G>D | No |
ClinGen gnomAD |
3 associated diseases with P55072
[MIM: 167320]: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269|PubMed:15034582, ECO:0000269|PubMed:15732117, ECO:0000269|PubMed:16247064, ECO:0000269|PubMed:16321991, ECO:0000269|PubMed:17935506, ECO:0000269|PubMed:20104022, ECO:0000269|PubMed:20335036, ECO:0000269|PubMed:20512113, ECO:0000269|PubMed:21822278, ECO:0000269|PubMed:23349634, ECO:0000269|PubMed:25125609, ECO:0000269|PubMed:25878907, ECO:0000269|PubMed:27209344, ECO:0000269|PubMed:27753622, ECO:0000269|PubMed:29804830}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613954]: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6)
A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS6 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. Some patients with the disorder may have features of both diseases. {ECO:0000269|PubMed:21145000, ECO:0000269|PubMed:23349634}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616687]: Charcot-Marie-Tooth disease 2Y (CMT2Y)
An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
Without disease ID
- An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269|PubMed:15034582, ECO:0000269|PubMed:15732117, ECO:0000269|PubMed:16247064, ECO:0000269|PubMed:16321991, ECO:0000269|PubMed:17935506, ECO:0000269|PubMed:20104022, ECO:0000269|PubMed:20335036, ECO:0000269|PubMed:20512113, ECO:0000269|PubMed:21822278, ECO:0000269|PubMed:23349634, ECO:0000269|PubMed:25125609, ECO:0000269|PubMed:25878907, ECO:0000269|PubMed:27209344, ECO:0000269|PubMed:27753622, ECO:0000269|PubMed:29804830}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS6 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. Some patients with the disorder may have features of both diseases. {ECO:0000269|PubMed:21145000, ECO:0000269|PubMed:23349634}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
11 regional properties for P55072
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CDC48, N-terminal subdomain | 25 - 108 | IPR003338 |
| domain | AAA+ ATPase domain | 237 - 373 | IPR003593-1 |
| domain | AAA+ ATPase domain | 510 - 649 | IPR003593-2 |
| domain | ATPase, AAA-type, core | 241 - 370 | IPR003959-1 |
| domain | ATPase, AAA-type, core | 514 - 647 | IPR003959-2 |
| conserved_site | ATPase, AAA-type, conserved site | 341 - 359 | IPR003960-1 |
| conserved_site | ATPase, AAA-type, conserved site | 617 - 635 | IPR003960-2 |
| domain | CDC48, domain 2 | 125 - 191 | IPR004201 |
| domain | Spastin/Vps4, C-terminal | 720 - 760 | IPR015415 |
| domain | AAA ATPase, AAA+ lid domain | 393 - 435 | IPR041569-1 |
| domain | AAA ATPase, AAA+ lid domain | 669 - 710 | IPR041569-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.6 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
23 GO annotations of cellular component
| Name | Definition |
|---|---|
| ATPase complex | A protein complex which is capable of ATPase activity. |
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Derlin-1 retrotranslocation complex | A protein complex that functions in the retrotranslocation step of ERAD (ER-associated protein degradation), and includes at its core Derlin-1 oligomers forming a retrotranslocation channel. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| proteasome complex | A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| VCP-NPL4-UFD1 AAA ATPase complex | A multiprotein ATPase complex required for the efficient dislocation of ER-lumenal degradation substrates, and their subsequent proteolysis by the proteasome. In budding yeast, this complex includes Cdc48p, Npl4p and Ufd1p proteins. In mammals, this complex includes a hexamer of VCP/p97 (a cytosolic ATPase) and trimers of each of its cofactors UFD1L and NPL4 (NPLOC4) (e.g. a 6:3:3 stoichiometry). |
| VCP-NSFL1C complex | A protein complex between the ATPase VCP (p97) and its cofactor p47 (NSFL1C). In human, the protein complex consists of one homotrimer of NSFL1C/p47 per homohexamer of VCP/p97. |
17 GO annotations of molecular function
| Name | Definition |
|---|---|
| ADP binding | Binding to ADP, adenosine 5'-diphosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| BAT3 complex binding | Binding to a BAT3 complex. |
| deubiquitinase activator activity | Binds to and increases the activity of deubiquitinase, an enzyme that catalyzes the hydrolysis of various forms of polymeric ubiquitin sequences. |
| identical protein binding | Binding to an identical protein or proteins. |
| K48-linked polyubiquitin modification-dependent protein binding | Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 48 in the target protein. |
| lipid binding | Binding to a lipid. |
| MHC class I protein binding | Binding to a major histocompatibility complex class I molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. |
| polyubiquitin modification-dependent protein binding | Binding to a protein upon poly-ubiquitination of the target protein. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| ubiquitin-dependent protein binding | Binding to a protein upon ubiquitination of the target protein. |
| ubiquitin-like protein ligase binding | Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase. |
| ubiquitin-specific protease binding | Binding to a ubiquitin-specific protease. |
45 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| aggresome assembly | The aggregation, arrangement and bonding together of a set of components to form an aggresome; requires the microtubule cytoskeleton and dynein. |
| ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
| autophagosome maturation | Removal of PI3P and Atg8/LC3 after the closure of the phagophore and before the fusion with the endosome/lysosome (e.g. mammals and insects) or vacuole (yeast), and that very likely destabilizes other Atg proteins and thus enables their efficient dissociation and recycling. |
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| cellular response to arsenite ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an arsenite ion stimulus. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to heat | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| endoplasmic reticulum stress-induced pre-emptive quality control | The response to endoplasimic reticulum stress in which nascent proteins are degraded by attenuation of their translocation into the ER followed by rerouting to the cytosol without cleavage of the signal peptide, and subsequent degradation by the proteasome. |
| endoplasmic reticulum to Golgi vesicle-mediated transport | The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
| endosome to lysosome transport via multivesicular body sorting pathway | The directed movement of substances from endosomes to lysosomes by a pathway in which molecules are sorted into multivesicular bodies, which then fuse with the lysosome. |
| ER-associated misfolded protein catabolic process | The chemical reactions and pathways resulting in the breakdown of misfolded proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation. |
| ERAD pathway | The protein catabolic pathway which targets endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. It begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein modifications necessary for correct substrate transfer (e.g. ubiquitination), transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
| establishment of protein localization | The directed movement of a protein to a specific location. |
| flavin adenine dinucleotide catabolic process | The chemical reactions and pathways resulting in the breakdown of flavin adenine dinucleotide, which acts as a coenzyme or prosthetic group of various flavoprotein oxidoreductase enzymes. |
| interstrand cross-link repair | Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
| macroautophagy | The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded. |
| mitotic spindle disassembly | The controlled breakdown of the spindle during a mitotic cell cycle. |
| NADH metabolic process | The chemical reactions and pathways involving reduced nicotinamide adenine dinucleotide (NADH), a coenzyme present in most living cells and derived from the B vitamin nicotinic acid. |
| negative regulation of smoothened signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling. |
| positive regulation of ATP biosynthetic process | Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process. |
| positive regulation of canonical Wnt signaling pathway | Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of Lys63-specific deubiquitinase activity | Any process that activates or increases the frequency, rate or extent of Lys63-specific deubiquitinase activity. |
| positive regulation of mitochondrial membrane potential | Any process that activates or increases the frequency, rate or extent of establishment or extent of a mitochondrial membrane potential, the electric potential existing across any mitochondrial membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| positive regulation of oxidative phosphorylation | Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation. |
| positive regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| positive regulation of protein K63-linked deubiquitination | Any process that activates or increases the frequency, rate or extent of protein K63-linked deubiquitination. |
| positive regulation of protein-containing complex assembly | Any process that activates or increases the frequency, rate or extent of protein complex assembly. |
| proteasomal protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| protein-DNA covalent cross-linking repair | The removal of covalent cross-link between DNA and a protein. |
| regulation of aerobic respiration | Any process that modulates the frequency, rate or extent of aerobic respiration. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of protein localization to chromatin | Any process that modulates the frequency, rate or extent of protein localization to chromatin. |
| regulation of synapse organization | Any process that modulates the physical form of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
| retrograde protein transport, ER to cytosol | The directed movement of unfolded or misfolded proteins from the endoplasmic reticulum to the cytosol through the translocon. |
| stress granule disassembly | The disaggregation of a stress granule into its constituent protein and RNA parts. |
| translesion synthesis | The replication of damaged DNA by synthesis across a lesion in the template strand; a specialized DNA polymerase or replication complex inserts a defined nucleotide across from the lesion which allows DNA synthesis to continue beyond the lesion. This process can be mutagenic depending on the damaged nucleotide and the inserted nucleotide. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
| viral genome replication | Any process involved directly in viral genome replication, including viral nucleotide metabolism. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NB90 | SPATA5 | Ribosome biogenesis protein SPATA5 | Homo sapiens (Human) | PR |
| Q01853 | Vcp | Transitional endoplasmic reticulum ATPase | Mus musculus (Mouse) | PR |
| P54811 | cdc-48.1 | Transitional endoplasmic reticulum ATPase homolog 1 | Caenorhabditis elegans | PR |
| P54812 | cdc-48.2 | Transitional endoplasmic reticulum ATPase homolog 2 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASGADSKGD | DLSTAILKQK | NRPNRLIVDE | AINEDNSVVS | LSQPKMDELQ | LFRGDTVLLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKKRREAVCI | VLSDDTCSDE | KIRMNRVVRN | NLRVRLGDVI | SIQPCPDVKY | GKRIHVLPID |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DTVEGITGNL | FEVYLKPYFL | EAYRPIRKGD | IFLVRGGMRA | VEFKVVETDP | SPYCIVAPDT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIHCEGEPIK | REDEEESLNE | VGYDDIGGCR | KQLAQIKEMV | ELPLRHPALF | KAIGVKPPRG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ILLYGPPGTG | KTLIARAVAN | ETGAFFFLIN | GPEIMSKLAG | ESESNLRKAF | EEAEKNAPAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFIDELDAIA | PKREKTHGEV | ERRIVSQLLT | LMDGLKQRAH | VIVMAATNRP | NSIDPALRRF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GRFDREVDIG | IPDATGRLEI | LQIHTKNMKL | ADDVDLEQVA | NETHGHVGAD | LAALCSEAAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QAIRKKMDLI | DLEDETIDAE | VMNSLAVTMD | DFRWALSQSN | PSALRETVVE | VPQVTWEDIG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GLEDVKRELQ | ELVQYPVEHP | DKFLKFGMTP | SKGVLFYGPP | GCGKTLLAKA | IANECQANFI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SIKGPELLTM | WFGESEANVR | EIFDKARQAA | PCVLFFDELD | SIAKARGGNI | GDGGGAADRV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| INQILTEMDG | MSTKKNVFII | GATNRPDIID | PAILRPGRLD | QLIYIPLPDE | KSRVAILKAN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LRKSPVAKDV | DLEFLAKMTN | GFSGADLTEI | CQRACKLAIR | ESIESEIRRE | RERQTNPSAM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EVEEDDPVPE | IRRDHFEEAM | RFARRSVSDN | DIRKYEMFAQ | TLQQSRGFGS | FRFPSGNQGG |
| 790 | 800 | ||||
| AGPSQGSGGG | TGGSVYTEDN | DDDLYG |