O75844
PR
Gene name |
ZMPSTE24 (FACE1, STE24) |
Protein name |
CAAX prenyl protease 1 homolog |
Names |
Farnesylated proteins-converting enzyme 1, FACE-1, Prenyl protein-specific endoprotease 1, Zinc metalloproteinase Ste24 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10269 |
EC number |
3.4.24.84: Metalloendopeptidases |
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
5 structures for O75844
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YPT | X-ray | 380 A | A/B/D/E | 1-475 | PDB |
| 4AW6 | X-ray | 340 A | A/B/D/E | 1-475 | PDB |
| 5SYT | X-ray | 200 A | A | 1-474 | PDB |
| 6BH8 | X-ray | 385 A | A/B | 1-475 | PDB |
| AF-O75844-F1 | Predicted | AlphaFoldDB |
381 variants for O75844
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002520487 RCV000407338 rs1057515519 CA10610160 RCV000299107 |
10 | L>F | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000128743 rs281875360 RCV000034313 |
17 | K>missing | Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1472639374 CA339863349 RCV001100333 RCV001100332 |
18 | R>C | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs281875361 RCV000128744 RCV000023548 |
19 | I>missing | Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA116752 rs121908094 RCV000004495 RCV000128727 |
41 | Q>* | Mandibuloacral dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type b lipodystrophy (madb) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000118907 rs141386841 RCV000304896 CA231664 RCV000359585 |
109 | C>G | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001102304 CA790991 RCV001102303 rs747896764 |
156 | N>S | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs786205123 RCV000034314 |
195 | Y>missing | Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000023549 RCV000128745 rs281875367 |
198 | I>missing | Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA232757 rs281875369 RCV000128753 RCV003147343 |
231 | E>* | Mandibuloacral dysplasia with type B lipodystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs281875370 RCV000128754 CA232760 RCV002492493 |
237 | E>* | Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs267607181 CA116757 RCV000128755 RCV000004497 |
239 | E>* | Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001096901 rs267607181 COSM3790016 RCV001096900 RCV001856310 CA21037693 |
239 | E>K | Variant assessed as Somatic; 0.0 impact. Mandibuloacral dysplasia with type B lipodystrophy urinary_tract Lethal tight skin contracture syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000128756 rs121908095 VAR_064501 RCV000004496 CA116755 |
248 | P>L | Mandibuloacral dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type b lipodystrophy (madb) MADB; does not affect enzyme activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_064502 RCV000128759 CA232765 rs281875371 |
265 | N>S | MADB [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000128719 rs121908093 CA116750 RCV000004493 VAR_019308 |
340 | W>R | Mandibuloacral dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type b lipodystrophy (madb) MADB [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs554224406 RCV001098658 RCV001098659 RCV001873479 CA791141 |
343 | G>E | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000023547 RCV002490308 RCV000004492 RCV000335839 RCV000128723 rs137854889 |
362 | L>missing | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome ZMPSTE24-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000286716 RCV001820854 RCV000402216 CA791174 rs41268053 RCV000900421 |
369 | R>Q | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002556031 RCV001100461 RCV001100460 rs200751802 CA791204 |
420 | A>G | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001100462 rs371030454 RCV001100463 CA791207 |
426 | G>E | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs281875376 RCV000128732 RCV000023550 CA129356 |
450 | W>* | Mandibuloacral dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type b lipodystrophy (madb) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754971777 CA790879 RCV000503098 RCV002524342 |
3 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA339863134 rs1457271487 |
4 | W>* | No |
ClinGen gnomAD |
|
|
rs780522785 CA790880 |
5 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA790881 COSM681402 rs373684692 |
6 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA790884 rs777639293 |
7 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357417557 CA339863200 |
10 | L>S | No |
ClinGen TOPMed |
|
|
CA790886 rs780580864 |
11 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA790887 rs747435229 |
13 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA790888 rs769218912 |
14 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769218912 CA790889 |
14 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182874591 CA339863296 |
15 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA21029099 rs545458336 |
16 | E>A | No |
ClinGen 1000Genomes |
|
|
rs1046247 CA21029093 |
16 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA790892 rs1046247 |
16 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1413649496 CA339863333 |
17 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs966628147 CA21029113 |
18 | R>L | No |
ClinGen Ensembl |
|
|
CA339863372 rs1467506494 |
19 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1467506494 CA339863375 |
19 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1343427941 CA339863365 |
19 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA790894 rs766119891 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759336942 CA790896 |
23 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA790897 rs767497462 |
24 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA790898 rs376928686 |
27 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs114340421 CA21029146 |
29 | T>I | No |
ClinGen 1000Genomes |
|
|
rs1031980768 CA21029155 |
30 | V>M | No |
ClinGen TOPMed |
|
|
rs1304953189 CA339863593 |
33 | W>R | No |
ClinGen gnomAD |
|
|
rs753585926 CA790902 |
39 | Q>E | No |
ClinGen ExAC |
|
|
CA790918 rs760231853 |
43 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375924048 CA339864425 |
44 | I>L | No |
ClinGen TOPMed |
|
|
rs1015854218 CA21030143 |
45 | Y>C | No |
ClinGen gnomAD |
|
|
rs1230781127 CA339864447 |
46 | K>E | No |
ClinGen gnomAD |
|
|
rs763658936 COSM1342609 CA790920 |
46 | K>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA339864464 rs1444916145 |
47 | T>R | No |
ClinGen TOPMed |
|
|
CA21030148 rs762503258 |
48 | T>S | No |
ClinGen gnomAD |
|
|
rs962621988 CA21030151 |
50 | H>Q | No |
ClinGen Ensembl |
|
|
CA21030152 rs974397619 |
51 | V>I | No |
ClinGen gnomAD |
|
|
CA339864510 rs1252305391 |
52 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA790922 rs199508639 |
53 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168630631 CA339864525 |
54 | E>A | No |
ClinGen gnomAD |
|
|
rs1168630631 CA339864526 |
54 | E>G | No |
ClinGen gnomAD |
|
|
CA339864520 rs1409114429 |
54 | E>K | No |
ClinGen gnomAD |
|
|
rs1455088256 CA339864564 |
57 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527591303 CA21030157 |
58 | I>T | No |
ClinGen gnomAD |
|
|
rs751855913 CA790924 |
58 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781515504 CA790926 |
59 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1437869360 CA339864578 |
59 | M>T | No |
ClinGen gnomAD |
|
|
rs755419509 CA790925 |
59 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA790927 rs748610048 |
60 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756632307 CA790928 |
63 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs777770445 CA790929 |
65 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA790930 rs749377021 |
67 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA21030192 rs367628151 |
67 | S>T | No |
ClinGen Ensembl |
|
|
rs771057161 CA790931 |
68 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA339864684 rs1557772480 |
68 | R>Q | No |
ClinGen Ensembl |
|
|
rs281875363 RCV000128736 |
70 | Y>missing | No |
ClinVar dbSNP |
|
|
rs281875362 RCV000128735 |
70 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1569613530 CA339864709 |
70 | Y>C | No |
ClinGen Ensembl |
|
|
CA790933 rs199582862 |
71 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771942616 CA790934 |
74 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1190467902 CA339864771 |
75 | S>N | No |
ClinGen gnomAD |
|
|
CA339864797 rs1242581693 |
77 | F>L | No |
ClinGen gnomAD |
|
|
CA21030263 rs928372728 |
80 | W>C | No |
ClinGen Ensembl |
|
|
CA790937 rs764141945 |
84 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA790938 rs372440430 |
87 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557772513 CA339864935 |
88 | E>K | No |
ClinGen Ensembl |
|
|
CA790939 rs761443274 |
89 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs746865347 CA790955 |
92 | I>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000128737 CA232743 rs281875364 |
94 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1437108792 CA339866557 |
96 | G>R | No |
ClinGen TOPMed |
|
|
RCV000128738 rs281875365 |
99 | P>missing | No |
ClinVar dbSNP |
|
|
rs1376413341 CA339866618 |
99 | P>L | No |
ClinGen gnomAD |
|
|
rs1325703273 CA339866606 |
99 | P>S | No |
ClinGen TOPMed |
|
|
rs1292309455 CA339866694 |
104 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372348936 CA21032846 |
107 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs372348936 CA790959 |
107 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA790958 rs746064452 |
107 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962392440 CA21032856 |
108 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339866738 rs1569626005 |
109 | C>S | No |
ClinGen Ensembl |
|
|
rs561146384 CA790960 |
111 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA790961 rs529962801 |
114 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA790962 rs753058667 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339866869 rs1255678435 |
119 | E>A | No |
ClinGen gnomAD |
|
|
CA790963 rs376031534 |
119 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339866996 rs1159942447 |
120 | I>V | No |
ClinGen TOPMed |
|
|
CA21033100 rs914601567 |
122 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA339867051 rs1252393482 |
123 | S>F | No |
ClinGen gnomAD |
|
|
rs373587516 CA790977 |
126 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA339867093 rs1454208373 |
127 | L>P | No |
ClinGen gnomAD |
|
|
CA339867089 rs1254252444 |
127 | L>V | No |
ClinGen gnomAD |
|
|
rs761001042 CA790980 |
129 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs764402793 CA790981 |
130 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754176982 CA790982 |
132 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA790983 rs762325459 |
132 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000128740 rs281875366 |
134 | S>missing | No |
ClinVar dbSNP |
|
|
CA339867222 rs1185678557 |
135 | A>S | No |
ClinGen TOPMed |
|
|
CA339867218 COSM278220 rs1185678557 |
135 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA790985 rs750501103 |
136 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs17853725 CA21033130 VAR_034711 |
137 | T>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA339867269 rs1488101454 |
138 | G>D | No |
ClinGen TOPMed |
|
|
CA790986 rs758598126 |
138 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA339867285 rs1185389754 |
139 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA21033138 rs112521665 |
142 | S>G | No |
ClinGen Ensembl |
|
|
CA339867330 rs1227828922 |
142 | S>N | No |
ClinGen gnomAD |
|
|
CA790988 rs751792214 |
147 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868163320 CA21033147 |
149 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339867463 COSM1473975 rs1215697392 |
150 | E>Q | Variant assessed as Somatic; 4.822e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 151 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21033151 rs995106308 |
155 | F>L | No |
ClinGen gnomAD |
|
|
CA339867571 rs995106308 |
155 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756072440 CA790992 |
158 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs148764034 CA339867824 |
160 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1557775490 CA339867819 |
160 | L>S | No |
ClinGen Ensembl |
|
|
rs1454227590 CA339867884 |
164 | M>V | No |
ClinGen gnomAD |
|
|
CA339867938 CA791010 rs749183506 |
166 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA339867930 rs1186798949 |
166 | D>G | No |
ClinGen TOPMed |
|
|
CA339867941 rs1459895303 |
167 | A>T | No |
ClinGen TOPMed |
|
|
CA21033643 rs760187495 |
169 | K>Q | No |
ClinGen Ensembl |
|
|
rs1569630072 CA339868005 |
170 | K>E | No |
ClinGen Ensembl |
|
|
CA339868008 rs1313726284 |
170 | K>R | No |
ClinGen gnomAD |
|
|
rs1354988476 CA339868076 |
173 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203999763 CA339868140 |
176 | C>G | No |
ClinGen TOPMed |
|
|
CA339868134 rs1203999763 |
176 | C>S | No |
ClinGen TOPMed |
|
|
CA339868144 rs1309226844 |
176 | C>Y | No |
ClinGen gnomAD |
|
|
CA791014 rs145639744 |
181 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775051310 CA791015 |
182 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770010254 CA791017 |
186 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773644288 CA791018 |
190 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1557775572 CA339868508 RCV000722486 |
192 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1397367038 CA339868525 |
192 | G>V | No |
ClinGen gnomAD |
|
|
rs371936269 CA791019 |
193 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA791020 rs766996332 |
195 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339868616 rs766996332 |
195 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs774567122 CA791021 |
196 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA339868675 rs1361932358 |
197 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000128746 rs281875368 |
198 | I>missing | No |
ClinVar dbSNP |
|
|
rs199984135 CA21033684 |
198 | I>F | No |
ClinGen 1000Genomes |
|
|
rs767759144 CA791023 |
200 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA791024 rs752904264 |
201 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA791025 rs202090930 |
203 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA791026 rs376605914 |
204 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs905083580 CA21033695 |
207 | V>M | No |
ClinGen TOPMed |
|
|
rs533459404 CA21037682 |
210 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs533459404 CA339870546 |
210 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1483992935 CA339870564 |
213 | T>A | No |
ClinGen TOPMed |
|
|
rs375434823 CA21037684 |
214 | I>V | No |
ClinGen ESP |
|
|
RCV000594062 rs756256692 CA21037685 |
215 | Y>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1428116879 CA339870583 |
216 | A>P | No |
ClinGen gnomAD |
|
|
rs766472278 CA21037686 |
218 | Y>C | No |
ClinGen Ensembl |
|
|
rs758374640 CA791048 |
225 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779369094 CA791049 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1392832079 CA339870657 |
226 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA791050 rs751085566 |
228 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1433407750 CA339870667 |
228 | P>S | No |
ClinGen gnomAD |
|
|
rs1050301100 CA21037690 |
233 | K>E | No |
ClinGen gnomAD |
|
|
CA791051 rs372563227 |
233 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339870697 rs372563227 |
233 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA791052 rs781047804 |
235 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA339870739 rs1217737375 |
239 | E>D | No |
ClinGen gnomAD |
|
|
CA791053 rs771464900 |
239 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs779452594 CA791054 |
240 | V>I | No |
ClinGen ExAC |
|
|
CA791055 rs535326564 |
241 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA791056 rs772647434 COSM909422 |
242 | A>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA791057 rs772647434 |
242 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757089098 CA21037695 |
243 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs768751292 CA791060 |
244 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339870789 rs1402933266 |
247 | F>S | No |
ClinGen gnomAD |
|
|
CA791063 rs121908095 |
248 | P>R | Mandibuloacral dysplasia with type b lipodystrophy (madb) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA791062 rs776890223 |
248 | P>S | No |
ClinGen ExAC |
|
|
COSM187863 CA791064 rs764960683 |
250 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA791066 rs762728751 |
252 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1040241416 CA21037698 |
252 | V>L | No |
ClinGen Ensembl |
|
|
rs766405899 CA791067 |
253 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339870829 rs1185234722 |
254 | V>L | No |
ClinGen gnomAD |
|
|
rs1292120307 CA339870841 |
255 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA791068 rs751018350 |
257 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs554228180 CA21038902 |
257 | G>V | No |
ClinGen 1000Genomes |
|
|
rs955590811 CA339871169 |
258 | S>A | No |
ClinGen gnomAD |
|
|
rs955590811 CA21038903 |
258 | S>T | No |
ClinGen gnomAD |
|
|
rs1439651259 CA339871183 |
260 | R>C | No |
ClinGen gnomAD |
|
|
CA339871182 rs1439651259 |
260 | R>G | No |
ClinGen gnomAD |
|
|
CA791087 rs774384746 |
260 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759424820 CA791088 |
262 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004858283 CA21038904 |
264 | S>R | No |
ClinGen Ensembl |
|
|
CA339871213 rs1195950578 |
265 | N>H | No |
ClinGen gnomAD |
|
|
rs567519682 CA791091 |
269 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA791092 rs763908981 |
269 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA339871268 rs1376131588 |
272 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs886044057 RCV000287035 |
273 | K>missing | No |
ClinVar dbSNP |
|
|
RCV000128760 rs138606746 CA232767 |
276 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138606746 CA791094 |
276 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747497620 CA791095 COSM909424 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA339871298 rs1569650832 |
277 | I>K | No |
ClinGen Ensembl |
|
|
rs755487232 CA791096 |
277 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs200695349 CA21038905 |
277 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA339871323 rs1569650854 |
281 | D>Y | No |
ClinGen Ensembl |
|
|
CA339871334 rs1232186729 |
282 | T>I | No |
ClinGen gnomAD |
|
|
rs1254492995 CA339871346 |
285 | E>* | No |
ClinGen gnomAD |
|
|
rs1012620879 CA21038907 |
286 | E>G | No |
ClinGen TOPMed |
|
|
CA21038906 rs894152798 |
286 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 287 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA791097 rs781178278 |
287 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA339871361 rs1196520350 |
287 | Y>D | No |
ClinGen gnomAD |
|
|
CA339871360 rs1196520350 |
287 | Y>H | No |
ClinGen gnomAD |
|
|
CA339871370 rs1216118404 |
288 | S>C | No |
ClinGen gnomAD |
|
|
CA791100 rs773530082 |
289 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116238028 CA791099 |
289 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116238028 CA21038908 |
289 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA791101 rs749004762 |
290 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774038936 CA791103 |
291 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA339871390 rs1484476028 |
292 | K>R | No |
ClinGen TOPMed |
|
|
CA339871439 rs1569651055 |
299 | G>S | No |
ClinGen Ensembl |
|
|
rs1569651080 CA339871449 |
300 | M>T | No |
ClinGen Ensembl |
|
|
CA21038910 rs143533530 |
300 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA791105 rs143686273 |
301 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398961931 CA339871453 |
301 | E>K | No |
ClinGen gnomAD |
|
|
CA339871461 rs1341404683 |
302 | P>A | No |
ClinGen TOPMed |
|
|
CA791106 rs775139554 |
303 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339871467 rs775139554 |
303 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760323686 CA791107 |
303 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA791108 rs201393732 |
304 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21038911 rs201393732 |
304 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915948366 CA21038912 |
304 | N>I | No |
ClinGen gnomAD |
|
|
rs1228391676 CA339871480 |
305 | E>D | No |
ClinGen gnomAD |
|
|
CA791109 rs140290237 |
305 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21038913 rs761390798 CA791110 |
306 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA791111 rs766706415 |
309 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA21038914 rs981574730 |
310 | S>R | No |
ClinGen Ensembl |
|
|
CA791113 rs755470401 |
314 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 314 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339871547 rs1488432641 |
315 | A>P | No |
ClinGen gnomAD |
|
|
CA339871556 rs1415425861 |
316 | K>R | No |
ClinGen TOPMed |
|
|
rs879600093 CA21038915 |
318 | K>Q | No |
ClinGen Ensembl |
|
|
CA21039389 rs112662955 |
319 | N>S | No |
ClinGen Ensembl |
|
|
rs28581527 CA21039390 |
322 | Q>R | No |
ClinGen Ensembl |
|
|
rs977754930 CA21039391 |
324 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 326 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924918786 CA21039392 |
328 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA791137 rs767981253 COSM1665108 |
330 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756638167 CA791138 |
333 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339871685 rs1430313837 |
334 | G>S | No |
ClinGen gnomAD |
|
|
RCV000128720 CA232716 rs281875372 |
340 | W>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA339871726 rs1402953071 |
340 | W>* | No |
ClinGen TOPMed |
|
|
CA791140 rs281875372 |
340 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163932861 CA339871737 |
341 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 343 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745640032 CA791142 |
345 | T>S | No |
ClinGen ExAC |
|
|
CA791143 rs780029269 |
346 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs746881871 CA791144 |
347 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377508155 CA339871787 |
349 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339871794 rs1318043497 |
350 | I>T | No |
ClinGen gnomAD |
|
|
rs1470574423 CA339871791 |
350 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373835792 CA21039393 |
351 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA339871798 COSM1602386 rs1199362509 |
351 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA339871813 rs1284300747 |
353 | Q>* | No |
ClinGen gnomAD |
|
|
CA339871816 rs1351108576 |
353 | Q>L | No |
ClinGen gnomAD |
|
|
CA339871852 rs1569668542 |
356 | S>C | No |
ClinGen Ensembl |
|
|
rs375311466 CA791164 |
357 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746865332 CA791167 |
359 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA339871895 rs369946970 |
362 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781037801 CA791169 |
363 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs747662954 CA791170 |
364 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA339871904 rs747662954 |
364 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA339871903 rs747662954 |
364 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1455426244 CA339871907 |
364 | A>V | No |
ClinGen gnomAD |
|
|
CA791172 rs372458731 |
365 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339871910 rs1191553309 |
365 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000760724 CA339871916 CA339871917 rs1431637197 |
366 | L>* | No |
ClinGen gnomAD ClinVar dbSNP |
|
|
rs1172679301 CA339871926 |
367 | I>M | No |
ClinGen gnomAD |
|
|
CA339871932 rs1401166968 |
368 | G>D | No |
ClinGen gnomAD |
|
|
rs281875373 RCV000128724 COSM909427 CA232723 |
369 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA339871937 rs1442168517 |
370 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA21039916 rs909511412 |
372 | L>F | No |
ClinGen Ensembl |
|
|
rs775827561 CA791175 |
374 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA791176 rs761004119 |
374 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339871974 rs1318016484 |
375 | A>G | No |
ClinGen gnomAD |
|
|
rs1297211758 CA339871971 |
375 | A>T | No |
ClinGen gnomAD |
|
|
rs1256155111 CA339871995 |
378 | F>L | No |
ClinGen gnomAD |
|
|
rs865898744 CA21039918 |
379 | Y>* | No |
ClinGen Ensembl |
|
|
rs764643240 CA791177 |
381 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA791179 rs762415785 |
384 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA791180 rs563305441 |
384 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA21039919 rs917000899 |
385 | L>V | No |
ClinGen Ensembl |
|
|
CA791182 rs758686044 |
386 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA791181 rs750532344 |
386 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA339872066 rs1168602731 |
390 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA791184 rs751343295 |
397 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754769404 CA791185 |
398 | P>L | No |
ClinGen ExAC |
|
|
CA791186 rs765150001 |
400 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA21039920 rs765150001 |
400 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs773408247 CA791199 |
403 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs763172715 CA791200 |
404 | S>C | No |
ClinGen ExAC |
|
|
rs763172715 CA21040073 |
404 | S>F | No |
ClinGen ExAC |
|
|
rs1295923781 CA339872195 |
407 | L>V | No |
ClinGen gnomAD |
|
|
CA339872204 rs1341774271 |
408 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766674328 CA791201 COSM535226 |
412 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766674328 CA339872225 |
412 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555007253 CA791202 COSM187885 |
412 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1569671504 RCV001008530 |
417 | Q>missing | No |
ClinVar dbSNP |
|
|
RCV000128729 rs281875374 CA232729 |
417 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA21040076 rs909177885 |
420 | A>T | No |
ClinGen Ensembl |
|
|
rs281875375 RCV000128730 |
422 | A>missing | No |
ClinVar dbSNP |
|
|
CA339872299 rs1214749173 |
423 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339872301 rs1569671597 |
423 | K>R | No |
ClinGen Ensembl |
|
|
rs1282666797 CA339872312 |
424 | K>N | No |
ClinGen gnomAD |
|
|
CA339872318 rs1443078191 |
425 | L>P | No |
ClinGen gnomAD |
|
|
rs1286306288 CA339872315 |
425 | L>V | No |
ClinGen gnomAD |
|
|
CA791206 rs756041505 |
426 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1235010984 CA339872333 |
428 | A>P | No |
ClinGen Ensembl |
|
|
rs753325094 CA791208 |
429 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs942042513 CA21040077 |
432 | Y>H | No |
ClinGen Ensembl |
|
|
rs756803417 CA791209 |
433 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA339872395 rs1418206641 |
437 | K>T | No |
ClinGen gnomAD |
|
|
RCV000128731 CA232732 rs116771294 |
438 | L>F | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA339872408 rs1414598161 |
439 | N>S | No |
ClinGen gnomAD |
|
|
rs745466279 CA791210 |
441 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA791211 rs771773184 |
443 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA339872445 rs1343482147 |
444 | G>E | No |
ClinGen TOPMed |
|
|
rs748601004 CA791213 |
447 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373944901 CA791215 |
451 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11577203 CA21040078 |
451 | L>V | No |
ClinGen Ensembl |
|
|
RCV000128733 CA232735 rs281875377 |
452 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763585122 CA791217 |
453 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1345963194 CA339872513 |
454 | M>I | No |
ClinGen gnomAD |
|
|
CA791218 rs771084583 |
454 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339872519 rs1199992565 |
455 | W>L | No |
ClinGen gnomAD |
|
|
rs1569671842 CA339872527 |
456 | H>R | No |
ClinGen Ensembl |
|
|
rs1276555483 CA339872536 |
457 | Y>F | No |
ClinGen gnomAD |
|
|
rs1339460923 CA339872545 |
459 | H>Y | No |
ClinGen TOPMed |
|
|
rs546181580 CA339872556 |
460 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA791219 rs546181580 |
460 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA791220 rs759608939 |
461 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000128734 CA232738 rs281875378 |
462 | L>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs146105624 CA791221 |
462 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339872580 rs1490515870 |
465 | R>* | No |
ClinGen gnomAD |
|
|
rs752421867 CA791222 |
466 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339872599 rs1171594962 |
468 | A>T | No |
ClinGen gnomAD |
|
|
rs1422469930 CA339872613 |
470 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs760514585 CA791223 |
470 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs763989458 CA791225 |
472 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339872625 rs1399452004 |
472 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339872626 rs1399452004 |
472 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339872646 rs753737462 |
474 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA21040079 rs949521337 |
474 | Q>R | No |
ClinGen Ensembl |
|
|
rs1224863569 CA522803015 |
476 | H>R | No |
ClinGen gnomAD |
2 associated diseases with O75844
[MIM: 608612]: Mandibuloacral dysplasia with type B lipodystrophy (MADB)
A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. {ECO:0000269|PubMed:12913070, ECO:0000269|PubMed:17152860, ECO:0000269|PubMed:18435794, ECO:0000269|PubMed:20814950}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 275210]: Restrictive dermopathy 1 (RSDM1)
An autosomal recessive form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. {ECO:0000269|PubMed:15317753}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. {ECO:0000269|PubMed:12913070, ECO:0000269|PubMed:17152860, ECO:0000269|PubMed:18435794, ECO:0000269|PubMed:20814950}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. {ECO:0000269|PubMed:15317753}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for O75844
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, ZPR1-type | 49 - 237 | IPR004457-1 |
| domain | Zinc finger, ZPR1-type | 257 - 449 | IPR004457-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.24.84 | Metalloendopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| double-stranded DNA binding | Binding to double-stranded DNA. |
| metal ion binding | Binding to a metal ion. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| metalloexopeptidase activity | Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
49 GO annotations of biological process
| Name | Definition |
|---|---|
| adult walking behavior | The behavior of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg. |
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| CAAX-box protein processing | The second process in a series of specific posttranslational modifications to the CAAX box region of CAAX box proteins, in which the last three amino acids of the protein (AAX) are removed by proteolysis. |
| calcium ion import into sarcoplasmic reticulum | The directed movement of calcium ions into a sarcoplasmic reticulum. |
| CAMKK-AMPK signaling cascade | The series of molecular signals in which calmodulin-dependent protein kinase activity enabled by a CAMKK directly activates an AMPK. The cascade begins with calmodulin binding calcium which in turn binds CAMKK enabling its calmodulin-dependent protein kinase activity. The cascade ends with AMP-activated protein kinase activity. |
| cardiac conduction | Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. |
| cardiac muscle cell development | The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state. |
| cardiac ventricle development | The process whose specific outcome is the progression of a cardiac ventricle over time, from its formation to the mature structure. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. |
| cellular lipid metabolic process | The chemical reactions and pathways involving lipids, as carried out by individual cells. |
| cellular response to gamma radiation | 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 gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| determination of adult lifespan | The pathways that regulate the duration of the adult phase of the life-cycle of an animal. |
| 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. |
| growth plate cartilage development | The process whose specific outcome is the progression of the cartilage that will provide a scaffold for mineralization of endochondral bones as they elongate or grow. |
| hair follicle development | The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. |
| heart morphogenesis | The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| histone H2B-K5 acetylation | The modification of histone H2B by the addition of an acetyl group to a lysine residue at position 5 of the histone. |
| hypomethylation of CpG island | An decrease in the epigenetic methylation of cytosine and adenosine residues in a CpG island in DNA. CpG islands are genomic regions that contain a high frequency of the CG dinucleotide and are often associated with the transcription start site of genes. |
| inflammatory cell apoptotic process | Any apoptotic process in an inflammatory cell, any cell participating in the inflammatory response to a foreign substance e.g. neutrophil, macrophage. |
| kidney morphogenesis | Morphogenesis of a kidney. A kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine. |
| liver development | The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. |
| maintenance of rDNA | Any process involved in sustaining the fidelity and copy number of rDNA repeats. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| negative regulation of miRNA maturation | Any process that stops, prevents or reduces the frequency, rate or extent of maturation of miRNAs. |
| neuromuscular process | Any process pertaining to the functions of the nervous and muscular systems of an organism. |
| nuclear envelope organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope. |
| prenylated protein catabolic process | The chemical reactions and pathways resulting in the breakdown of prenylated proteins. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| regulation of autophagy | Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| regulation of bone mineralization | Any process that modulates the frequency, rate or extent of bone mineralization. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| regulation of cellular senescence | Any process that modulates the frequency, rate or extent of cellular senescence. |
| regulation of defense response to virus | Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism. |
| regulation of DNA damage response, signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| regulation of fibroblast proliferation | Any process that modulates the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| regulation of glucose metabolic process | Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. |
| regulation of histone H4-K16 acetylation | Any process that modulates the frequency, rate or extent of histone H4-K16 acetylation. |
| regulation of hormone metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
| regulation of mitotic cell cycle DNA replication | Any process that modulates the frequency, rate or extent of mitotic cell cycle DNA replication. |
| regulation of multicellular organism growth | Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size. |
| regulation of RNA polymerase II regulatory region sequence-specific DNA binding | Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. |
| regulation of stress-activated protein kinase signaling cascade | Any process that modulates the frequency, rate or extent of signaling via a stress-activated protein kinase signaling cascade. |
| regulation of termination of RNA polymerase I transcription | Any process that modulates the frequency, rate or extent of termination of RNA polymerase I transcription. |
| regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
| regulation of ventricular cardiac muscle cell membrane repolarization | Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in a ventricular cardiomyocyte. |
| response to DNA damage checkpoint signaling | A process that occurs in response to signals generated as a result of DNA damage checkpoint signaling. |
| thymus development | The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components. |
| ventricular cardiac muscle tissue development | The process whose specific outcome is the progression of ventricular cardiac muscle over time, from its formation to the mature structure. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q80W54 | Zmpste24 | CAAX prenyl protease 1 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGMWASLDAL | WEMPAEKRIF | GAVLLFSWTV | YLWETFLAQR | QRRIYKTTTH | VPPELGQIMD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SETFEKSRLY | QLDKSTFSFW | SGLYSETEGT | LILLFGGIPY | LWRLSGRFCG | YAGFGPEYEI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TQSLVFLLLA | TLFSALTGLP | WSLYNTFVIE | EKHGFNQQTL | GFFMKDAIKK | FVVTQCILLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSSLLLYIIK | IGGDYFFIYA | WLFTLVVSLV | LVTIYADYIA | PLFDKFTPLP | EGKLKEEIEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MAKSIDFPLT | KVYVVEGSKR | SSHSNAYFYG | FFKNKRIVLF | DTLLEEYSVL | NKDIQEDSGM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EPRNEEEGNS | EEIKAKVKNK | KQGCKNEEVL | AVLGHELGHW | KLGHTVKNII | ISQMNSFLCF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FLFAVLIGRK | ELFAAFGFYD | SQPTLIGLLI | IFQFIFSPYN | EVLSFCLTVL | SRRFEFQADA |
| 430 | 440 | 450 | 460 | 470 | |
| FAKKLGKAKD | LYSALIKLNK | DNLGFPVSDW | LFSMWHYSHP | PLLERLQALK | TMKQH |