Q9UNE7
PR
Gene name |
STUB1 |
Protein name |
E3 ubiquitin-protein ligase CHIP |
Names |
Antigen NY-CO-7, CLL-associated antigen KW-8, Carboxy terminus of Hsp70-interacting protein, RING-type E3 ubiquitin transferase CHIP, STIP1 homology and U box-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10273 |
EC number |
2.3.2.27: Aminoacyltransferases |
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
12 structures for Q9UNE7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4KBQ | X-ray | 291 A | A/B | 21-154 | PDB |
| 6EFK | X-ray | 150 A | A/B | 23-154 | PDB |
| 6NSV | X-ray | 130 A | A/B | 23-152 | PDB |
| 7TB1 | X-ray | 178 A | A/B | 16-153 | PDB |
| 8EHZ | X-ray | 206 A | A/B | 21-154 | PDB |
| 8EI0 | X-ray | 147 A | A | 23-154 | PDB |
| 8F14 | X-ray | 169 A | A | 23-154 | PDB |
| 8F15 | X-ray | 173 A | A/B/C | 23-154 | PDB |
| 8F16 | X-ray | 156 A | A/B | 23-154 | PDB |
| 8F17 | X-ray | 221 A | A/B | 23-154 | PDB |
| 8FYU | X-ray | 185 A | A/B | 22-149 | PDB |
| AF-Q9UNE7-F1 | Predicted | AlphaFoldDB |
272 variants for Q9UNE7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_072348 | 28 | E>K | SCAR16; reduces protein level; does not reduce ubiquitin ligase activity and autoubiquitination [UniProt] | Yes | UniProt |
|
rs2039634238 RCV001293253 |
33 | G>S | Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001575125 RCV000149509 RCV002468569 VAR_072349 rs690016544 CA174973 |
65 | N>S | Autosomal recessive spinocerebellar ataxia 16 Spinocerebellar ataxia 48 SCAR16; reduces protein level; reduces ubiquitin ligase activity; does not change autoubiquitination [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP |
|
rs587777347 CA151396 RCV000115005 VAR_071293 |
79 | A>D | Autosomal recessive spinocerebellar ataxia 16 SCAR16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA151395 rs587777346 VAR_071294 RCV000115004 |
79 | A>T | Autosomal recessive spinocerebellar ataxia 16 SCAR16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000115002 rs587777344 VAR_071295 CA151393 |
123 | L>V | Autosomal recessive spinocerebellar ataxia 16 SCAR16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA151390 VAR_071296 rs587777341 RCV000114999 |
130 | N>I | Autosomal recessive spinocerebellar ataxia 16 SCAR16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000194931 VAR_072350 RCV000989407 rs146251364 RCV002517140 RCV002517982 CA209422 COSM1166135 |
145 | K>Q | Autosomal recessive spinocerebellar ataxia 16 large_intestine Inborn genetic diseases SCAR16 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA151391 rs587777342 VAR_071297 RCV000115000 |
147 | W>C | Autosomal recessive spinocerebellar ataxia 16 SCAR16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA151389 rs587777340 VAR_071298 RCV000114998 |
165 | L>F | Autosomal recessive spinocerebellar ataxia 16 SCAR16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001823003 rs1555475283 RCV000503054 |
216 | S>missing | Autosomal recessive spinocerebellar ataxia 16 Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000995446 RCV001644885 rs1395191127 CA394113762 |
225 | R>* | Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2039691550 RCV001293254 |
228 | P>S | Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001559327 rs754446573 RCV001293255 RCV001090954 |
230 | Y>missing | Autosomal recessive spinocerebellar ataxia 16 Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000504494 rs1555475375 |
232 | C>missing | Autosomal recessive spinocerebellar ataxia 16 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_071299 | 236 | S>T | SCAR16 [UniProt] | Yes | UniProt |
|
RCV000115003 rs587777345 CA151394 VAR_071300 |
240 | M>T | Autosomal recessive spinocerebellar ataxia 16 Variant assessed as Somatic; impact. SCAR16 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
RCV000500739 CA7786789 rs760424025 |
241 | R>G | Autosomal recessive spinocerebellar ataxia 16 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587777343 RCV000995447 CA151392 VAR_071301 RCV000115001 |
246 | T>M | Autosomal recessive spinocerebellar ataxia 16 SCAR16; inhibits ubiquitin ligase activity and autoubiquitination [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs770730338 RCV001261528 |
254 | R>G | Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039704195 RCV001293256 |
274 | P>missing | Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748984540 RCV002462119 RCV000721117 |
275 | L>missing | Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039704361 RCV001254134 |
275 | L>missing | Spinocerebellar ataxia 48 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567283195 RCV000761294 |
296 | E>* | Autosomal recessive spinocerebellar ataxia 16 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1411180690 CA394109745 |
3 | G>A | No |
ClinGen gnomAD |
|
|
CA7786504 rs754525900 |
4 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA394109776 rs1351060033 |
7 | K>N | No |
ClinGen TOPMed |
|
|
CA7786506 rs752149215 |
8 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1487330955 CA394109789 |
9 | G>D | No |
ClinGen gnomAD |
|
|
rs758359029 CA7786507 |
9 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7786508 rs777501465 |
11 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394109804 rs1344117901 |
12 | R>P | No |
ClinGen TOPMed |
|
|
rs1240584788 CA394109802 |
12 | R>W | No |
ClinGen TOPMed |
|
|
CA394109808 rs1418022938 |
13 | L>Q | No |
ClinGen gnomAD |
|
|
rs770617507 CA7786510 |
15 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376705247 CA7786511 |
16 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs868806649 CA276564406 |
18 | G>R | No |
ClinGen Ensembl |
|
|
rs1459732338 CA394109843 |
19 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394109841 rs1459732338 |
19 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394109838 rs1348468013 |
19 | S>R | No |
ClinGen gnomAD |
|
|
rs1596548255 CA394109854 |
21 | E>* | No |
ClinGen Ensembl |
|
|
rs2039633804 RCV001268123 |
22 | K>missing | No |
ClinVar dbSNP |
|
|
CA394109873 rs1311547564 |
23 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394109871 rs1311547564 |
23 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7786514 rs774604020 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773576555 CA7786517 |
28 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1480069721 CA394109924 |
31 | E>K | No |
ClinGen gnomAD |
|
|
rs766618211 CA7786519 |
32 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs11558085 CA276564453 |
32 | Q>R | No |
ClinGen gnomAD |
|
|
CA276564462 RCV000995444 rs1046869202 |
34 | N>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1183547899 CA394109952 |
35 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394109954 rs1412198141 |
35 | R>H | No |
ClinGen gnomAD |
|
|
rs865966215 CA276564464 |
37 | F>L | No |
ClinGen gnomAD |
|
|
CA394109969 rs1464248742 |
38 | V>M | No |
ClinGen gnomAD |
|
|
CA276564467 rs866673602 |
40 | R>Q | No |
ClinGen Ensembl |
|
|
CA276564496 rs1053933750 |
43 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1333506936 CA394110003 |
43 | P>S | No |
ClinGen gnomAD |
|
|
CA7786521 rs759204523 |
44 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA394110057 rs1276268725 |
48 | C>W | No |
ClinGen TOPMed |
|
|
rs375727842 CA7786523 |
48 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757849639 CA7786524 |
49 | Y>C | No |
ClinGen ExAC TOPMed |
|
| VAR_085041 | 57 | P>S | found in a patient with progressive myoclonus epilepsy; unknown pathological significance [UniProt] | No | UniProt |
|
rs1596548928 CA394110196 |
59 | V>G | No |
ClinGen Ensembl |
|
|
rs370018797 CA7786539 |
59 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394110198 rs1427329505 |
60 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394110216 rs1596548953 |
61 | V>G | No |
ClinGen Ensembl |
|
|
rs555037758 CA7786541 |
66 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1175502621 CA394110322 |
72 | K>T | No |
ClinGen gnomAD |
|
|
rs1340804620 CA394110340 |
73 | M>I | No |
ClinGen gnomAD |
|
|
CA394110827 rs1567279587 |
74 | Q>E | No |
ClinGen Ensembl |
|
|
rs1435279378 CA394110853 |
75 | Q>R | No |
ClinGen gnomAD |
|
|
rs751566069 CA7786542 |
76 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA394110907 rs1219258923 |
76 | H>Q | No |
ClinGen gnomAD |
|
|
CA394110943 rs757164655 |
77 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757164655 CA7786543 |
77 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1285950965 CA394110927 |
77 | E>K | No |
ClinGen gnomAD |
|
|
CA7786544 rs767421931 |
78 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1197061561 CA394111038 |
82 | D>N | No |
ClinGen gnomAD |
|
|
rs368817535 CA7786545 |
85 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567279654 CA394111150 |
88 | E>D | No |
ClinGen Ensembl |
|
|
rs748347206 CA7786549 |
92 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779343085 CA7786547 |
92 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 94 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567279689 CA394111304 |
96 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 100 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394111405 rs1033465525 |
100 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA276565059 rs1802179 |
102 | Q>* | No |
ClinGen Ensembl |
|
|
rs965898426 CA276565063 |
105 | L>V | No |
ClinGen Ensembl |
|
|
CA394111507 rs1242926184 |
106 | E>Q | No |
ClinGen gnomAD |
|
|
rs148553428 CA7786552 RCV000974536 |
109 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1208373115 CA394111625 |
110 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7786554 rs746292203 |
111 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394111732 rs1198150405 |
115 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394111730 rs1198150405 |
115 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7786555 rs770142723 |
115 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394111737 rs1456416134 |
116 | N>D | No |
ClinGen gnomAD |
|
|
CA394111736 rs1456416134 |
116 | N>H | No |
ClinGen gnomAD |
|
|
CA7786556 rs775164755 |
116 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951669702 CA276565080 |
117 | L>V | No |
ClinGen gnomAD |
|
|
rs1320190342 CA394111879 |
121 | Y>C | No |
ClinGen gnomAD |
|
|
CA394111899 rs1414321477 |
122 | S>C | No |
ClinGen TOPMed |
|
|
rs373392008 CA276565227 |
122 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786582 rs373392008 |
122 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786584 rs753687024 |
125 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759321996 CA394111962 CA7786585 |
126 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs924516446 CA276565267 |
127 | Q>* | No |
ClinGen Ensembl |
|
|
rs764284031 CA7786586 |
127 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs751805616 CA7786587 |
128 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1464067702 CA394112102 |
135 | I>T | No |
ClinGen gnomAD |
|
|
rs1376536218 CA394112121 |
137 | S>G | No |
ClinGen gnomAD |
|
|
CA7786592 rs780472903 |
138 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs780472903 CA394112131 |
138 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1194926944 CA394112136 |
138 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 140 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477627016 CA394112230 |
146 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394112235 rs1235455048 |
146 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs587777342 CA7786596 |
147 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs998305137 CA276565361 |
149 | S>C | No |
ClinGen Ensembl |
|
|
CA7786597 rs771799916 |
149 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771799916 CA394112310 |
149 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772875923 CA7786598 |
150 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266167362 CA394112377 |
153 | R>L | No |
ClinGen gnomAD |
|
|
rs1596549530 CA394112371 |
153 | R>W | No |
ClinGen Ensembl |
|
|
CA276565370 COSM1379113 rs11642472 |
154 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA394112382 COSM1227939 rs1430966965 |
154 | R>H | Variant assessed as Somatic; 4.674e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7786599 rs746448484 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396282737 CA394112419 |
156 | H>Q | No |
ClinGen gnomAD |
|
|
CA7786601 rs776620952 |
157 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765052815 CA7786603 |
160 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394112507 rs1410313056 |
162 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394112520 rs1293186628 |
163 | S>C | No |
ClinGen gnomAD |
|
|
rs762119331 CA7786605 |
164 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1017204634 CA276565410 |
164 | Y>F | No |
ClinGen TOPMed |
|
|
rs1017204634 CA394112532 |
164 | Y>S | No |
ClinGen TOPMed |
|
|
rs750506956 CA7786607 |
170 | A>G | No |
ClinGen ExAC |
|
|
rs985699317 CA276565477 |
171 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs766938458 CA7786609 |
171 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985699317 CA276565480 |
171 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394112642 rs1264499143 |
172 | E>K | No |
ClinGen gnomAD |
|
|
rs1596549676 RCV000995445 |
173 | R>missing | No |
ClinVar dbSNP |
|
|
rs941487780 CA276565499 |
173 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs941487780 CA394112659 |
173 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755346712 CA7786611 |
173 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs370181948 CA7786612 |
174 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753255370 CA7786649 |
176 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756967274 CA7786653 |
179 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751926875 CA7786652 |
179 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA394112831 rs764534080 |
179 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1302238 rs764534080 CA7786651 |
179 | E>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs144127842 CA7786656 CA7786655 |
181 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780645344 CA7786654 |
181 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786658 rs369941408 |
182 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145094142 CA394112878 |
182 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145094142 CA7786659 |
182 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394112908 rs1362071330 |
184 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778709890 CA394112930 |
184 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362071330 CA394112922 |
184 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM3402474 rs771194855 CA394112952 |
185 | E>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394112947 rs1350674905 |
185 | E>G | No |
ClinGen gnomAD |
|
|
rs757171182 CA7786661 |
185 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757171182 CA276565876 |
185 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394112956 rs929099236 |
186 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7786663 rs776700179 |
186 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs929099236 CA276565909 |
186 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 186 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7786664 rs759732187 |
187 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7786666 rs769735565 |
188 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs776190994 CA7786667 |
189 | D>A | No |
ClinGen ExAC TOPMed |
|
|
rs571201548 CA394113017 CA394113014 |
189 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394113027 rs1596550607 |
190 | D>A | No |
ClinGen Ensembl |
|
|
CA7786669 rs764657057 |
190 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394113082 rs762026266 |
192 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786670 rs538288405 |
192 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596550615 CA394113076 |
192 | H>Y | No |
ClinGen Ensembl |
|
|
rs200514887 CA7786673 |
193 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755698159 CA7786674 |
193 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs200514887 CA7786672 |
193 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200514887 CA394113085 |
193 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7786677 rs377648766 |
194 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7786676 rs779560132 |
194 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786680 rs758120574 |
196 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781520518 CA7786681 |
197 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs781520518 CA394113134 |
197 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1567280972 CA394113165 |
200 | I>V | No |
ClinGen Ensembl |
|
|
CA276565990 rs775746999 |
201 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7786684 rs770011307 |
201 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA394113219 rs1293385741 |
204 | H>D | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567281591 CA394113354 |
205 | D>E | No |
ClinGen Ensembl |
|
|
rs1346470010 CA394113341 |
205 | D>H | No |
ClinGen TOPMed |
|
|
rs149025311 CA276566162 |
205 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV001291599 rs2039682224 |
206 | K>missing | No |
ClinVar dbSNP |
|
|
CA7786738 rs776310910 |
208 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759212540 CA7786739 |
209 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394113447 rs1215470467 |
210 | D>E | No |
ClinGen gnomAD |
|
|
rs1481222863 CA394113455 |
211 | M>T | No |
ClinGen TOPMed |
|
|
rs774871168 CA7786741 |
211 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762468667 CA7786742 |
212 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1192191093 CA394113487 |
213 | E>K | No |
ClinGen TOPMed |
|
|
rs1453093635 CA394113506 |
214 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA276566204 rs559782820 |
216 | S>C | No |
ClinGen gnomAD |
|
|
CA394113539 rs559782820 |
216 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205665909 CA394113531 |
216 | S>P | No |
ClinGen TOPMed |
|
|
CA394113542 rs1567281734 |
217 | Q>E | No |
ClinGen Ensembl |
|
|
CA276566213 rs908959169 |
218 | V>A | No |
ClinGen gnomAD |
|
|
rs923817905 CA276566223 |
219 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs941757224 CA394113612 |
220 | E>D | No |
ClinGen TOPMed |
|
|
rs750201272 CA7786749 |
220 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3818529 CA7786748 rs767441746 |
220 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7786752 rs755255559 |
222 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394113653 rs1269872215 |
223 | K>E | No |
ClinGen TOPMed |
|
|
CA394113749 rs1468640424 |
224 | K>* | No |
ClinGen Ensembl |
|
|
CA394113764 rs1461391501 |
225 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs374219833 CA7786779 |
226 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394113800 rs1255155081 |
229 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA276566408 rs997333070 |
229 | D>V | No |
ClinGen Ensembl |
|
|
rs1185371126 CA394113827 |
230 | Y>* | No |
ClinGen TOPMed |
|
|
rs373247057 CA7786786 |
234 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774000567 CA7786785 |
234 | K>R | No |
ClinGen ExAC |
|
|
CA7786787 rs772192776 |
235 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1203077728 CA394113908 |
238 | E>G | No |
ClinGen gnomAD |
|
|
CA7786791 rs571293928 |
241 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7786790 rs571293928 |
241 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394113935 rs760424025 |
241 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786792 rs763270493 |
242 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786794 rs751656037 |
243 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768079742 CA7786796 |
244 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7786799 rs780490830 |
247 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749547598 CA7786800 |
248 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs990557287 CA276567452 |
248 | S>R | No |
ClinGen Ensembl |
|
|
rs778695083 CA7786802 |
250 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7786805 rs773328355 RCV000995448 |
253 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7786807 rs770730338 |
254 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1567282437 CA394114283 |
254 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1278591967 CA394114292 |
255 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759197630 CA7786809 |
256 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1455053893 CA394114302 |
257 | I>V | No |
ClinGen gnomAD |
|
|
CA394114308 rs1262673273 |
258 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394114322 rs1188355785 |
259 | E>K | No |
ClinGen gnomAD |
|
|
CA394114339 rs1429029063 |
260 | H>Y | No |
ClinGen gnomAD |
|
|
CA7786848 rs201071334 |
263 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA276567637 rs1030088581 |
263 | R>H | No |
ClinGen gnomAD |
|
|
rs749022932 CA7786851 |
270 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7786855 rs770889589 |
272 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760849270 CA7786854 |
272 | R>W | No |
ClinGen ExAC gnomAD |
|
|
RCV001090955 rs2039704654 |
275 | L>missing | No |
ClinVar dbSNP |
|
|
rs760147998 CA394114555 |
276 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7786858 rs760147998 |
276 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000502847 rs1555475529 |
278 | E>missing | No |
ClinVar dbSNP |
|
|
rs1555475532 CA394114576 RCV000657787 |
278 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394114588 rs1231579187 |
279 | Q>E | No |
ClinGen gnomAD |
|
|
CA7786862 rs763877474 |
282 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394114650 rs756840635 CA394114652 |
284 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766960266 CA7786866 |
287 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1472814077 CA394114693 |
288 | E>V | No |
ClinGen gnomAD |
|
|
CA394114697 rs1394886697 |
289 | V>I | No |
ClinGen gnomAD |
|
|
rs1412050106 CA394114712 |
290 | I>T | No |
ClinGen gnomAD |
|
|
rs754736265 CA7786871 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314944308 CA394114738 COSM973571 |
292 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1226695056 CA394114758 |
294 | I>T | No |
ClinGen gnomAD |
|
|
rs1356190007 CA394114753 |
294 | I>V | No |
ClinGen gnomAD |
|
|
CA394114808 rs1216161334 |
298 | G>D | No |
ClinGen gnomAD |
|
|
CA7786874 rs771141324 |
300 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA394114830 rs1275049962 |
300 | V>M | No |
ClinGen gnomAD |
|
|
rs1596553326 CA394114850 |
301 | E>G | No |
ClinGen Ensembl |
|
|
CA276567698 rs753936737 |
302 | D>E | No |
ClinGen gnomAD |
|
|
rs745883177 CA7786876 |
302 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with Q9UNE7
[MIM: 615768]: Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy. {ECO:0000269|PubMed:24113144, ECO:0000269|PubMed:24312598, ECO:0000269|PubMed:24719489, ECO:0000269|PubMed:24742043, ECO:0000269|PubMed:25258038}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618093]: Spinocerebellar ataxia 48 (SCA48)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy. {ECO:0000269|PubMed:30381368}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy. {ECO:0000269|PubMed:24113144, ECO:0000269|PubMed:24312598, ECO:0000269|PubMed:24719489, ECO:0000269|PubMed:24742043, ECO:0000269|PubMed:25258038}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy. {ECO:0000269|PubMed:30381368}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q9UNE7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | U-box domain | 226 - 300 | IPR003613 |
| repeat | Tetratricopeptide repeat | 26 - 59 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 60 - 93 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 94 - 127 | IPR019734-3 |
| domain | CHIP, N-terminal tetratricopeptide repeat domain | 142 - 225 | IPR041312 |
| domain | CHIP, U-box domain | 227 - 297 | IPR045202 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| chaperone complex | A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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). |
| nuclear inclusion body | An intranuclear focus at which aggregated proteins have been sequestered. |
| 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. |
| ubiquitin conjugating enzyme complex | Any complex that possesses ubiquitin conjugating enzyme activity. |
| ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
17 GO annotations of molecular function
| Name | Definition |
|---|---|
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| G protein-coupled receptor binding | Binding to a G protein-coupled receptor. |
| heat shock protein binding | Binding to a heat shock protein, a protein synthesized or activated in response to heat shock. |
| Hsp70 protein binding | Binding to a Hsp70 protein, heat shock proteins around 70kDa in size. |
| Hsp90 protein binding | Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| misfolded protein binding | Binding to a misfolded protein. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| SMAD binding | Binding to a SMAD signaling protein. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| TPR domain binding | Binding to a tetratricopeptide repeat (TPR) domain of a protein, the consensus sequence of which is defined by a pattern of small and large hydrophobic amino acids and a structure composed of helices. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| ubiquitin-ubiquitin ligase activity | Isoenergetic transfer of ubiquitin from one protein to an existing ubiquitin chain via the reaction X-ubiquitin + Y-ubiquitin -> Y-ubiquitin-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue. |
27 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| cellular response to hypoxia | 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 lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular response to misfolded protein | 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 misfolded protein stimulus. |
| chaperone-mediated autophagy | The autophagy process which begins when chaperones and co-chaperones recognize a target motif and unfold the substrate protein. The proteins are then transported to the lysosome where they are degraded. |
| 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. |
| 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. |
| ERBB2 signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor ERBB2 on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. ERBB2 receptors are themselves unable to bind to ligands, but act as a signal-amplifying tyrosine kinase within a heterodimeric pair. |
| negative regulation of protein binding | Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. |
| negative regulation of transforming growth factor beta receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway. |
| positive regulation of chaperone-mediated protein complex assembly | Any process that increases the frequency, rate, or extent of chaperone-mediated protein complex assembly. Chaperone-mediated protein complex assembly is the aggregation, arrangement and bonding together of a set of components to form a protein complex, mediated by chaperone molecules that do not form part of the finished complex. |
| 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 ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of proteolysis | Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. |
| positive regulation of ubiquitin-protein transferase activity | Any process that activates, maintains or increases the rate of ubiquitin transferase activity. |
| 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 autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
| protein K63-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair. |
| protein maturation | Any process leading to the attainment of the full functional capacity of a protein. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| protein quality control for misfolded or incompletely synthesized proteins | The chemical reactions and pathways resulting in the breakdown of misfolded or attenuated proteins. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of glucocorticoid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
| 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. |
| 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 a ubiquitin group, or multiple ubiquitin groups, to the protein. |
| ubiquitin-dependent SMAD protein catabolic process | The chemical reactions and pathways resulting in the breakdown of SMAD signaling proteins by ubiquitination and targeting to the proteasome. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9WUD1 | Stub1 | E3 ubiquitin-protein ligase CHIP | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKGKEEKEGG | ARLGAGGGSP | EKSPSAQELK | EQGNRLFVGR | KYPEAAACYG | RAITRNPLVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VYYTNRALCY | LKMQQHEQAL | ADCRRALELD | GQSVKAHFFL | GQCQLEMESY | DEAIANLQRA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YSLAKEQRLN | FGDDIPSALR | IAKKKRWNSI | EERRIHQESE | LHSYLSRLIA | AERERELEEC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QRNHEGDEDD | SHVRAQQACI | EAKHDKYMAD | MDELFSQVDE | KRKKRDIPDY | LCGKISFELM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| REPCITPSGI | TYDRKDIEEH | LQRVGHFDPV | TRSPLTQEQL | IPNLAMKEVI | DAFISENGWV |
| EDY |