Q15904
PR
Gene name |
ATP6AP1 (ATP6IP1, ATP6S1, VATPS1, XAP3) |
Protein name |
V-type proton ATPase subunit S1 |
Names |
V-ATPase subunit S1, Protein XAP-3, V-ATPase Ac45 subunit, V-ATPase S1 accessory protein, Vacuolar proton pump subunit S1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:537 |
EC number |
|
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
280 variants for Q15904
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001171364 rs2068680774 |
74 | L>P | Immunodeficiency 47 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853276 RCV000225250 VAR_077021 CA10581575 |
144 | L>P | Immunodeficiency 47 IMD47 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1557196978 CA415190062 RCV001857199 RCV000590996 |
181 | L>R | Immunodeficiency 47 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2068705545 RCV001250487 |
217 | Y>N | Immunodeficiency 47 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782349780 RCV001195771 CA10562682 |
225 | R>H | Immunodeficiency 47 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1603384499 RCV001171365 CA415194767 RCV000991196 |
311 | L>Q | Immunodeficiency 47 ATP6AP1-related disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_077022 rs878853278 RCV000225189 CA10581577 |
313 | Y>C | Immunodeficiency 47 IMD47; probable loss of proton-transporting V-type ATPase complex assembly in yeast; unable to restore V-ATPase-dependent growth in Voa1 mutant yeast [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs878853277 RCV000225332 CA10581576 COSM1176442 RCV001560673 VAR_077023 |
346 | E>K | Immunodeficiency 47 large_intestine Variant assessed as Somatic; impact. endometrium IMD47; probable loss of proton-transporting V-type ATPase complex assembly in yeast; unable to restore V-ATPase-dependent growth in Voa1 mutant yeast [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA10562795 rs782410042 RCV001322194 RCV002543839 |
407 | V>I | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs878853275 CA415197380 CA10581574 VAR_077024 RCV000225137 |
428 | M>I | Immunodeficiency 47 IMD47; restores V-ATPase-dependent growth in Voa1 mutant yeast [ClinVar, UniProt] | Yes |
ClinGen gnomAD ClinVar UniProt dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415187260 rs1557196211 |
5 | M>K | No |
ClinGen gnomAD |
|
|
rs1188595076 CA415187251 |
5 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415187284 rs1557196212 |
6 | A>V | No |
ClinGen gnomAD |
|
|
rs1557196215 CA415187296 |
7 | T>M | No |
ClinGen gnomAD |
|
|
rs1557196218 CA415187304 |
8 | A>D | No |
ClinGen gnomAD |
|
|
rs1476028984 CA415187299 |
8 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1557196218 CA415187308 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA415187310 rs1557196220 |
9 | R>* | No |
ClinGen gnomAD |
|
|
rs782582475 CA415187316 |
9 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs782582475 CA10562495 |
9 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782201766 CA10562496 |
10 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415187318 rs1557196223 |
10 | V>M | No |
ClinGen gnomAD |
|
|
rs1557196228 CA415187338 |
11 | R>Q | No |
ClinGen gnomAD |
|
|
rs1557196227 CA415187332 |
11 | R>W | No |
ClinGen gnomAD |
|
|
rs782551359 CA10562497 |
12 | M>I | No |
ClinGen ExAC |
|
|
CA415187343 rs1557196231 |
12 | M>V | No |
ClinGen gnomAD |
|
|
rs992965475 CA337292448 |
13 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA415187362 rs1557196233 |
13 | G>V | No |
ClinGen gnomAD |
|
|
rs992965475 CA415187359 |
13 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA415187372 rs1557196234 |
14 | P>S | No |
ClinGen gnomAD |
|
|
CA415187390 rs1557196239 |
15 | R>L | No |
ClinGen gnomAD |
|
|
CA415187386 rs1557196239 |
15 | R>Q | No |
ClinGen gnomAD |
|
|
rs201620814 RCV000730697 CA10562498 |
15 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1557196245 CA415187406 |
16 | C>* | No |
ClinGen gnomAD |
|
|
CA10562500 rs782343507 |
16 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA415187410 rs1557196248 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1557196249 CA415187424 |
18 | Q>* | No |
ClinGen gnomAD |
|
|
CA415187432 rs1350076008 |
18 | Q>R | No |
ClinGen TOPMed |
|
|
CA415187448 rs1274309154 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415187450 rs1235681678 |
20 | L>F | No |
ClinGen TOPMed |
|
|
CA415187481 rs1557196263 |
22 | R>C | No |
ClinGen gnomAD |
|
|
rs781970321 CA415187490 |
22 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10562501 rs781970321 |
22 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415187518 rs1432010564 |
24 | P>L | No |
ClinGen TOPMed |
|
|
rs1557196268 CA415187514 |
24 | P>S | No |
ClinGen gnomAD |
|
|
CA415187558 rs1319932209 |
28 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs868938500 CA415187579 |
31 | S>A | No |
ClinGen Ensembl |
|
|
CA415187588 rs868994508 |
32 | L>S | No |
ClinGen Ensembl |
|
|
CA415187597 rs1244012425 |
33 | A>V | No |
ClinGen TOPMed |
|
|
rs781904137 CA337292502 |
34 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs782809244 CA337292497 |
34 | A>P | No |
ClinGen 1000Genomes |
|
|
rs781904137 CA415187601 |
34 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA337292507 rs782508648 |
35 | A>G | No |
ClinGen 1000Genomes |
|
|
rs782783019 CA337292517 |
36 | A>G | No |
ClinGen 1000Genomes |
|
|
rs1557196285 CA415187615 |
37 | A>G | No |
ClinGen gnomAD |
|
|
rs1557196291 CA415187623 |
38 | A>V | No |
ClinGen gnomAD |
|
|
CA337292529 rs781828833 |
39 | A>E | No |
ClinGen 1000Genomes |
|
|
rs1333330967 CA415187630 |
40 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA415187634 rs1273148864 |
40 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415187646 rs930539656 |
42 | E>D | No |
ClinGen gnomAD |
|
|
rs920550880 CA337292554 |
42 | E>G | No |
ClinGen Ensembl |
|
|
CA337292553 rs971978747 |
42 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10562523 rs147496008 |
55 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10562524 rs139929144 |
60 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557196358 CA415187773 |
60 | A>T | No |
ClinGen gnomAD |
|
|
rs782439500 CA10562525 |
61 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA415187786 rs1603383795 |
62 | D>A | No |
ClinGen Ensembl |
|
|
CA415187798 rs781946895 |
64 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782270669 CA10562527 |
64 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781946895 CA10562526 |
64 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA415187808 rs1557196362 |
65 | E>G | No |
ClinGen gnomAD |
|
|
CA10562529 rs781967346 |
67 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10562531 rs782710069 |
69 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1175778112 CA415187879 |
74 | L>V | No |
ClinGen TOPMed |
|
|
CA10562534 rs74526112 |
76 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415187943 rs1394559005 |
79 | D>V | No |
ClinGen TOPMed |
|
|
rs782098927 CA10562536 |
80 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs145311857 CA10562538 |
81 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10562539 rs782542159 |
83 | E>D | No |
ClinGen ExAC |
|
|
rs1231716998 CA415187979 |
83 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA337292743 rs986424608 |
87 | R>T | No |
ClinGen Ensembl |
|
|
rs781860751 CA10562541 |
88 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782517698 CA10562542 |
95 | D>N | No |
ClinGen ExAC |
|
|
rs369607006 CA10562574 |
98 | S>N | No |
ClinGen ESP ExAC |
|
|
CA415188901 rs1469364157 |
99 | I>T | No |
ClinGen TOPMed |
|
|
CA415188911 rs1237549752 |
101 | D>N | No |
ClinGen TOPMed |
|
|
CA415188937 rs782161019 |
104 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562575 rs782161019 |
104 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415188964 rs1557196825 |
107 | G>A | No |
ClinGen gnomAD |
|
|
CA10562576 rs782606567 |
107 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | F>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415189021 rs1262452503 |
112 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10562577 rs782002491 |
114 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199872479 CA10562578 |
115 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781924823 CA10562582 |
116 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA415189120 rs1557196834 |
119 | N>T | No |
ClinGen gnomAD |
|
|
RCV000585197 rs148803059 CA10562583 |
121 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA337293837 rs201216602 |
128 | P>R | No |
ClinGen Ensembl |
|
|
CA337293835 rs11539774 |
128 | P>T | No |
ClinGen Ensembl |
|
|
rs782520106 CA10562608 |
135 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557196937 CA415189375 |
135 | A>V | No |
ClinGen gnomAD |
|
|
rs369762387 CA337293852 |
136 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA10562611 rs782516905 |
136 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782606556 CA415189397 |
137 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562612 rs782606556 |
137 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782237992 CA10562613 |
139 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1466455409 CA415189443 |
140 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA415189444 rs1466455409 |
140 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415189446 rs1557196943 |
141 | V>L | No |
ClinGen gnomAD |
|
|
CA10562615 rs782585256 |
145 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782274346 CA10562616 |
149 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs781988575 CA10562618 |
151 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10562617 rs782418554 |
151 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10562620 rs782357235 |
153 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782357235 CA415189601 |
153 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562621 rs191074164 |
154 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782067103 CA10562622 |
155 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562623 rs782417619 |
157 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1201151700 CA415189696 |
158 | H>R | No |
ClinGen TOPMed |
|
|
rs373210240 CA10562624 |
161 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782107550 CA10562625 |
165 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337293893 COSM206663 rs782026906 |
165 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1557196964 CA415189851 |
168 | K>N | No |
ClinGen gnomAD |
|
|
rs781826979 CA10562627 |
169 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs146873302 CA337293913 |
170 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201518275 CA10562628 |
171 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415189912 rs1557196970 |
172 | S>T | No |
ClinGen gnomAD |
|
|
rs1557196972 CA415189980 |
175 | A>V | No |
ClinGen gnomAD |
|
|
CA10562629 rs200943680 |
180 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10562630 rs140841742 RCV002227503 RCV000891321 |
180 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA337293941 rs144602046 |
183 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA10562633 rs781855202 |
183 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA415190121 rs1305642150 |
184 | T>I | No |
ClinGen TOPMed |
|
|
rs1557197077 CA415190285 |
188 | G>S | No |
ClinGen gnomAD |
|
|
rs1557197080 CA415190368 |
192 | P>L | No |
ClinGen gnomAD |
|
|
rs1201885928 CA415190363 |
192 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1245758 CA10562651 rs781827825 |
194 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs782427033 | 199 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415190498 rs1557197087 |
200 | D>N | No |
ClinGen gnomAD |
|
|
rs782696227 COSM1177766 CA10562672 |
204 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA10562673 rs782518476 |
206 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10562674 rs782728896 |
207 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA337294510 rs782451012 |
208 | S>N | No |
ClinGen Ensembl |
|
|
rs782611558 CA337294525 |
213 | E>A | No |
ClinGen Ensembl |
|
|
CA10562676 rs782436864 |
213 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161332749 CA415190889 |
214 | D>V | No |
ClinGen TOPMed |
|
|
rs1557197201 CA415190910 |
216 | P>S | No |
ClinGen gnomAD |
|
|
rs782597304 CA10562677 |
219 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562678 rs782275544 |
223 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782271128 CA10562681 |
225 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10562683 rs781977533 |
226 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562684 rs782187940 |
228 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA415192670 rs1224999691 |
231 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10562691 rs781947223 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10562692 rs782098424 |
232 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1557197277 CA415192697 |
233 | V>I | No |
ClinGen gnomAD |
|
|
CA10562694 rs377763063 |
234 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782677186 CA10562693 |
234 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs990581002 CA337294678 |
235 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs781862779 CA10562697 |
238 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782527203 CA10562698 |
239 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA10562699 rs782606687 |
240 | L>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 242 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415192884 rs1302676187 |
242 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782451464 CA10562701 |
246 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562700 rs782237636 |
246 | Q>K | No |
ClinGen ExAC |
|
|
CA10562702 rs781928490 |
247 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782283729 CA10562703 |
247 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA415192975 rs781928490 |
247 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415193037 rs1557197297 |
249 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10562705 rs782640195 |
251 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 258 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337294770 rs928791822 |
261 | N>D | No |
ClinGen Ensembl |
|
|
CA10562707 rs782357366 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782076896 CA10562709 |
264 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782407184 CA415193387 |
265 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782407184 CA10562710 |
265 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415193395 rs1197607113 |
266 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 271 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415193771 rs1557197323 |
276 | V>L | No |
ClinGen gnomAD |
|
|
rs868950779 CA415193797 |
277 | A>E | No |
ClinGen gnomAD |
|
|
CA10562712 rs782111728 |
277 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM206664 rs868950779 CA415193802 |
277 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 281 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781828275 CA10562714 |
283 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA415194036 rs1557197328 |
286 | T>S | No |
ClinGen gnomAD |
|
|
rs1343921171 CA415194226 |
294 | E>K | No |
ClinGen TOPMed |
|
|
rs781884065 CA10562717 |
295 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367650839 CA10562718 |
296 | N>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 299 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781864715 CA10562720 |
301 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA415194468 rs1557197336 |
303 | N>S | No |
ClinGen gnomAD |
|
|
rs1603384418 CA415194536 |
306 | F>L | No |
ClinGen Ensembl |
|
|
rs370314083 CA337294895 |
307 | A>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 312 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257892519 CA415194794 |
314 | E>K | No |
ClinGen TOPMed |
|
|
CA337295259 rs891593072 |
315 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1323878079 CA415194949 |
319 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 321 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415195010 rs1557197437 |
322 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557197461 CA415195223 |
329 | N>T | No |
ClinGen gnomAD |
|
|
rs375162515 COSM252371 CA337295328 |
330 | R>C | ovary large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs782330877 CA10562748 |
330 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782330877 CA10562749 |
330 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10562750 rs782243961 |
331 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10562751 rs782384749 |
337 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368929031 CA10562753 |
342 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782690014 CA10562754 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415195506 rs781936333 |
344 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781936333 CA10562755 |
344 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1569553309 CA415195619 |
350 | N>S | No |
ClinGen Ensembl |
|
|
rs781862242 CA10562758 |
353 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782737307 CA10562760 COSM3406156 |
354 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1264626717 CA415195683 |
354 | A>V | No |
ClinGen TOPMed |
|
|
rs1557197501 CA415195735 |
357 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 358 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 359 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230368231 CA415195783 |
360 | Q>E | No |
ClinGen TOPMed |
|
|
CA415195996 rs868990356 |
368 | S>F | No |
ClinGen Ensembl |
|
|
CA415196088 rs1557197509 |
372 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557197511 CA415196116 |
373 | Y>C | No |
ClinGen gnomAD |
|
|
CA415196233 rs1569553310 |
378 | S>N | No |
ClinGen Ensembl |
|
|
CA415196249 rs1557197518 |
379 | K>E | No |
ClinGen gnomAD |
|
|
rs782284513 CA10562764 |
380 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA415196299 rs1603384549 |
381 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 384 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10562767 rs782644354 |
385 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782644354 CA10562766 |
385 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200315745 RCV000976070 CA10562768 |
386 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA10562769 rs781921302 |
387 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs140009552 CA10562772 |
388 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200598349 CA337295570 |
388 | T>M | No |
ClinGen gnomAD |
|
|
rs140009552 CA10562771 RCV000961854 |
388 | T>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA415196488 rs200598349 |
388 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782286220 CA10562774 |
390 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782362083 CA10562775 |
391 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415196646 rs1557197531 |
395 | M>T | No |
ClinGen gnomAD |
|
|
CA337295636 rs973971109 |
396 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 398 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 403 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000585372 rs1557197567 CA415196910 |
405 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1360388362 CA415196976 |
408 | M>T | No |
ClinGen TOPMed |
|
|
CA415197058 rs1164762118 |
411 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 412 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 412 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557197572 CA415197136 |
415 | A>T | No |
ClinGen gnomAD |
|
|
rs373493591 CA10562799 |
421 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10562800 rs782044382 |
422 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10562802 rs139996783 |
425 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA337295839 rs905964178 |
432 | T>S | No |
ClinGen Ensembl |
|
|
CA415197472 rs1487014783 |
434 | L>V | No |
ClinGen TOPMed |
|
|
rs1557197586 CA415197486 |
435 | F>L | No |
ClinGen gnomAD |
|
|
CA10562805 rs781873327 |
436 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA415197504 rs1284771165 |
436 | M>V | No |
ClinGen TOPMed |
|
|
rs782481594 CA10562806 |
437 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10562808 rs782183645 |
442 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415197680 rs782335202 |
445 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10562810 rs782673056 |
448 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA10562812 rs782385991 |
449 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415197795 rs1263408568 |
453 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA415197881 rs1243834914 |
455 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1001589429 CA337295869 |
458 | D>G | No |
ClinGen Ensembl |
|
|
rs781951012 CA10562813 |
461 | G>S | No |
ClinGen ExAC |
|
|
rs782087690 CA10562814 |
462 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782087690 CA415198075 |
462 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782300974 CA10562815 |
463 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781932603 CA10562816 |
465 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA10562817 rs782069740 |
466 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA415198179 rs1603384627 |
468 | Q>P | No |
ClinGen Ensembl |
|
|
CA337295889 rs1035699989 |
469 | I>T | No |
ClinGen Ensembl |
|
|
CA415198198 rs1557197604 |
470 | V>M | No |
ClinGen gnomAD |
1 associated diseases with Q15904
[MIM: 300972]: Immunodeficiency 47 (IMD47)
A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. {ECO:0000269|PubMed:27231034}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. {ECO:0000269|PubMed:27231034}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q15904
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ATP25 mRNA stabilisation domain | 305 - 594 | IPR025210 |
Functions
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| clathrin-coated vesicle membrane | The lipid bilayer surrounding a clathrin-coated vesicle. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum-Golgi intermediate compartment membrane | The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| 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. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| proton-transporting two-sector ATPase complex | A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. |
| proton-transporting V-type ATPase complex | A proton-transporting two-sector ATPase complex that couples ATP hydrolysis to the transport of protons across a concentration gradient. The resulting transmembrane electrochemical potential of H+ is used to drive a variety of (i) secondary active transport systems via H+-dependent symporters and antiporters and (ii) channel-mediated transport systems. The complex comprises a membrane sector (V0) that carries out proton transport and a cytoplasmic compartment sector (V1) that catalyzes ATP hydrolysis. V-type ATPases are found in the membranes of organelles such as vacuoles, endosomes, and lysosomes, and in the plasma membrane. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| small GTPase binding | Binding to a small monomeric GTPase. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular iron ion homeostasis | Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. |
| cellular response to increased oxygen levels | 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 reflecting an increase in the level of oxygen. |
| endosomal lumen acidification | Any process that reduces the pH of the endosomal lumen, measured by the concentration of the hydrogen ion. |
| endosome to plasma membrane protein transport | The directed movement of proteins from the endosome to the plasma membrane in transport vesicles. |
| Golgi lumen acidification | Any process that reduces the pH of the Golgi lumen, measured by the concentration of the hydrogen ion. |
| intracellular pH reduction | Any process that reduces the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| lysosomal lumen acidification | Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion. |
| osteoclast development | The process whose specific outcome is the progression of a osteoclast from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of cellular pH | Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. |
| vacuolar acidification | Any process that reduces the pH of the vacuole, measured by the concentration of the hydrogen ion. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMAAMATARV | RMGPRCAQAL | WRMPWLPVFL | SLAAAAAAAA | AEQQVPLVLW | SSDRDLWAPA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ADTHEGHITS | DLQLSTYLDP | ALELGPRNVL | LFLQDKLSIE | DFTAYGGVFG | NKQDSAFSNL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENALDLAPSS | LVLPAVDWYA | VSTLTTYLQE | KLGASPLHVD | LATLRELKLN | ASLPALLLIR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPYTASSGLM | APREVLTGND | EVIGQVLSTL | KSEDVPYTAA | LTAVRPSRVA | RDVAVVAGGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GRQLLQKQPV | SPVIHPPVSY | NDTAPRILFW | AQNFSVAYKD | QWEDLTPLTF | GVQELNLTGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FWNDSFARLS | LTYERLFGTT | VTFKFILANR | LYPVSARHWF | TMERLEVHSN | GSVAYFNASQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VTGPSIYSFH | CEYVSSLSKK | GSLLVARTQP | SPWQMMLQDF | QIQAFNVMGE | QFSYASDCAS |
| 430 | 440 | 450 | 460 | ||
| FFSPGIWMGL | LTSLFMLFIF | TYGLHMILSL | KTMDRFDDHK | GPTISLTQIV |