AiPD: Autoinhibited Protein Database

Q93050

Gene name	ATP6V0A1 (ATP6N1, ATP6N1A, VPP1)
Protein name	V-type proton ATPase 116 kDa subunit a 1
Names	V-ATPase 116 kDa subunit a 1, Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit, Vacuolar adenosine triphosphatase subunit Ac116, Vacuolar proton pump subunit 1, Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:535
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

47-195 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

47-195 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

6 structures for Q93050

Entry ID	Method	Resolution	Chain	Position	Source
6WLW	EM	300 A	R	1-837	PDB
6WM2	EM	310 A	R	1-837	PDB
6WM3	EM	340 A	R	1-837	PDB
6WM4	EM	360 A	R	1-837	PDB
7U4T	EM	360 A	R	1-837	PDB
AF-Q93050-F1	Predicted				AlphaFoldDB

444 variants for Q93050

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1204448380 RCV000984719 CA399592911	447	R>Q	Esophageal atresia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_087489	477	S>P	DEE104; unknown pathological significance [UniProt]	Yes	UniProt
VAR_087490 CA290762663 rs781278654	495	R>W	Variant assessed as Somatic; impact. NEDEBA; unknown pathological significance [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA TOPMed dbSNP gnomAD
VAR_087491	505	A>P	NEDEBA; impaired acidification of endolysosomal compartments; when tested in transgenic mice, homozygosity leads to body weights lower than in wild-type animals, impaired motor function, defects in the neuronal development and synapse formation and eventually death at about 2 weeks of age [UniProt]	Yes	UniProt
VAR_087492 rs766856192 CA8576379	527	N>D	NEDEBA; unknown pathological significance; impaired acidification of endolysosomal compartments [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
VAR_087493	551	G>E	DEE104; unknown pathological significance [UniProt]	Yes	UniProt
RCV001267573 VAR_087494 CA399584957 RCV002226480 RCV002226479 RCV002271565 rs1567871600 RCV000678272	740	R>Q	Autism Global developmental delay Developmental and epileptic encephalopathy 104 Variant assessed as Somatic; impact. Inborn genetic diseases DEE104; impaired acidification of endolysosomal compartments; when tested in transgenic mice, homozygosity leads to embryonic death at 5 to 6 dpc [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_087495 TCGA novel	804	R>H	Variant assessed as Somatic; impact. DEE104 [NCI-TCGA, UniProt]	Yes	NCI-TCGA UniProt
rs1321772023 CA399577159	2	G>E		No	ClinGen gnomAD
rs1314299746 CA399577157	2	G>W		No	ClinGen gnomAD
TCGA novel	3	E>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779205570 CA290758322	3	E>D		No	ClinGen Ensembl
CA290758325 rs144263882	6	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8575976 rs144263882	6	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA399577210 rs1243690493	6	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs796930148 CA290758326	7	S>N		No	ClinGen Ensembl
TCGA novel	9	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8575977 rs762746790	12	L>M		No	ClinGen ExAC gnomAD
CA399577457 rs1183499979	22	A>V		No	ClinGen gnomAD
rs1403403681 CA399577510	25	C>S		No	ClinGen Ensembl
CA8575982 rs753863830	27	S>G		No	ClinGen ExAC gnomAD
rs907977079 CA290758333	32	L>F		No	ClinGen TOPMed
rs755485576 CA399577701	35	V>F		No	ClinGen ExAC gnomAD
CA8575983 rs755485576	35	V>I		No	ClinGen ExAC gnomAD
CA399577738 rs1332418979	36	Q>H		No	ClinGen gnomAD
COSM3819628 COSM3819629 rs1050799200 CA290758336	38	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs779408907 CA8575984	38	R>H		No	ClinGen ExAC TOPMed gnomAD
rs372616123	39	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs938187145 CA290759159	46	V>I		No	ClinGen TOPMed gnomAD
rs112804782 CA290759160	48	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775674726 CA8576005	49	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA399579028 rs1311497633 COSM472815	49	R>W	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8576008 rs756984374	58	C>Y		No	ClinGen ExAC gnomAD
rs371946847 CA8576010	62	D>G		No	ClinGen ESP ExAC TOPMed
TCGA novel	63	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193242986 CA399579300	66	R>G		No	ClinGen gnomAD
CA399579431 rs1598705338	68	V>I		No	ClinGen Ensembl
CA8576031 rs748686055	72	I>V		No	ClinGen ExAC gnomAD
TCGA novel	75	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472429480 CA399579566	76	N>D		No	ClinGen TOPMed
CA8576032 rs768640506	77	I>T		No	ClinGen ExAC gnomAD
rs545345712 CA8576033	78	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs771902927 CA8576035	80	M>T		No	ClinGen ExAC gnomAD
TCGA novel	86	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399579769 rs1166231450	89	P>L		No	ClinGen TOPMed gnomAD
CA8576037 rs759834496	90	F>L		No	ClinGen ExAC TOPMed gnomAD
rs775654279 CA8576039	92	R>Q		No	ClinGen ExAC gnomAD
CA399579808 rs1163486300	92	R>W		No	ClinGen gnomAD
rs1459701672 CA399579821	93	D>Y		No	ClinGen gnomAD
rs148759339 CA8576040	94	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333164607 CA399579840	94	M>T		No	ClinGen gnomAD
CA399579915 rs1326764651	98	E>G		No	ClinGen gnomAD
CA8576041 rs370052932	98	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	101	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576063 rs753555360	105	E>V		No	ClinGen ExAC gnomAD
CA8576064 rs761008462	107	E>V		No	ClinGen ExAC gnomAD
rs142398225 CA290759540	111	I>V		No	ClinGen ESP gnomAD
CA399580371 rs1567812300	112	N>H		No	ClinGen Ensembl
CA290759541 rs771265499	112	N>S		No	ClinGen Ensembl
CA8576068 rs778425613	113	T>A		No	ClinGen ExAC gnomAD
CA399580383 rs1412922330	114	N>H		No	ClinGen TOPMed
rs377283389 CA8576069	117	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8576070 rs758346328	126	T>N		No	ClinGen ExAC gnomAD
rs746962618 CA8576072 COSM979495	127	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs901191354 CA290759542	130	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA399580500 rs1200101137	131	I>L		No	ClinGen TOPMed
TCGA novel	133	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399580515 rs1453817469	133	R>C		No	ClinGen TOPMed
CA399580516 rs1269274593	133	R>H		No	ClinGen gnomAD
rs527951831 CA8576073	134	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs781021955 CA8576074	138	F>L		No	ClinGen ExAC gnomAD
rs781021955 CA399580549	138	F>V		No	ClinGen ExAC gnomAD
CA399580566 rs1215142524	139	F>L		No	ClinGen gnomAD
TCGA novel	140	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757190852 CA8576092	142	M>V		No	ClinGen ExAC gnomAD
CA8576094 rs140591345	143	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140591345 CA8576093	143	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1335034996 CA399581828	146	D>Y		No	ClinGen gnomAD
rs1319729044 CA399581927	151	S>T		No	ClinGen gnomAD
CA290760315 rs891216376	159	E>K		No	ClinGen TOPMed
CA8576098 rs548951835	160	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA290760316 rs889651311	160	M>L		No	ClinGen Ensembl
CA399582123 rs1480359299	161	G>R		No	ClinGen gnomAD
rs1345072246 CA399582172	164	T>A		No	ClinGen TOPMed
rs1259668281 CA399582209	166	L>S		No	ClinGen gnomAD
rs1598797857 CA399583466	171	V>M		No	ClinGen Ensembl
CA8576121 rs746361772	174	V>G		No	ClinGen ExAC gnomAD
rs953351023 CA290760390	175	I>V		No	ClinGen Ensembl
CA399583566 rs770195864	176	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1303982939 CA399583577	177	R>P		No	ClinGen gnomAD
CA399583575 rs1303982939	177	R>Q		No	ClinGen gnomAD
CA8576123 rs775804667	177	R>W		No	ClinGen ExAC TOPMed gnomAD
CA399583590 rs1598798168	178	E>G		No	ClinGen Ensembl
CA399583583 rs1447615804	178	E>K		No	ClinGen TOPMed gnomAD
CA399583587 rs1447615804	178	E>Q		No	ClinGen TOPMed gnomAD
CA399583604 rs1598798210	179	R>G		No	ClinGen Ensembl
COSM979501 CA8576124 rs565034112	179	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA399583617 rs565034112	179	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8576126 rs773733920	185	R>H		No	ClinGen ExAC gnomAD
rs752851816 CA290760391	189	R>W		No	ClinGen TOPMed
rs1598798413 CA399583827	190	V>G		No	ClinGen Ensembl
rs766919770 CA8576128	192	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1598798559 CA399583902	194	N>K		No	ClinGen Ensembl
CA8576129 rs750432237	197	L>P		No	ClinGen ExAC gnomAD
CA290760392 rs750432237	197	L>Q		No	ClinGen ExAC gnomAD
rs141985511 CA8576133	203	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs777985254 CA8576134	204	N>Y		No	ClinGen ExAC gnomAD
rs1343218626 CA399584041	205	P>A		No	ClinGen gnomAD
rs1206082544 CA399584172	211	T>N		No	ClinGen TOPMed
rs1275651223 CA399585709	213	D>N		No	ClinGen gnomAD
CA290760604 rs999446258	213	D>V		No	ClinGen TOPMed gnomAD
CA8576150 rs772806504	214	Y>C		No	ClinGen ExAC gnomAD
CA8576148 rs145824527	214	Y>H		No	ClinGen ESP ExAC TOPMed
CA8576149 rs772806504	214	Y>S		No	ClinGen ExAC gnomAD
CA399585758 rs1598814845	215	V>M		No	ClinGen Ensembl
TCGA novel	216	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188209429 CA399585882	219	V>A		No	ClinGen gnomAD
CA399585907 rs1351334473	220	F>L		No	ClinGen TOPMed gnomAD
CA290760605 rs753688999	221	I>L		No	ClinGen Ensembl
CA290760606 rs748693129	221	I>T		No	ClinGen Ensembl
TCGA novel	222	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576154 rs764929128	227	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1409265708 CA399586141	227	D>V		No	ClinGen gnomAD
TCGA novel	228	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328327614 CA399586220	230	K>R		No	ClinGen gnomAD
rs1294062263 CA399586331	233	V>I		No	ClinGen gnomAD
CA399586363 rs1475772702	234	K>E		No	ClinGen TOPMed
rs1478561540 CA399587951	240	F>L		No	ClinGen Ensembl
rs1278948627 CA399587934	240	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1482098212 CA399587963	241	R>Q		No	ClinGen gnomAD
rs756257957 CA8576178	252	Q>K		No	ClinGen ExAC gnomAD
rs888422651 CA399588114	252	Q>L		No	ClinGen gnomAD
rs888422651 CA290760860	252	Q>R		No	ClinGen gnomAD
CA399588130 rs1357030232	253	E>G		No	ClinGen TOPMed
rs1290866448 CA399588138	254	R>G		No	ClinGen TOPMed
CA399588174 rs1240831114	256	E>*		No	ClinGen TOPMed
rs766418874 CA8576179	256	E>A		No	ClinGen ExAC gnomAD
TCGA novel	257	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576180 rs754421311	258	A>T		No	ClinGen ExAC TOPMed gnomAD
CA399588242 rs1394538353	261	V>M		No	ClinGen gnomAD
CA8576182 rs779368097	265	I>V		No	ClinGen ExAC TOPMed gnomAD
rs143549371 CA8576184	266	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs748395848 CA8576183	266	D>N		No	ClinGen ExAC gnomAD
CA8576185 rs777626938	268	L>F		No	ClinGen ExAC gnomAD
TCGA novel	274	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226165648 COSM243128 CA399588572	275	T>M	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399588617 rs1598873404	278	H>P		No	ClinGen Ensembl
CA8576205 COSM187064 rs780783054	279	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399588664 rs745305946	281	R>S		No	ClinGen ExAC TOPMed gnomAD
CA290761297 rs111886720	282	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	284	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567834856 CA399588724	285	A>V		No	ClinGen Ensembl
CA8576209 rs749195764	290	I>T		No	ClinGen ExAC gnomAD
rs1254060184 CA399588809	290	I>V		No	ClinGen TOPMed
CA8576210 rs566274919	291	R>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	292	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774086002 CA8576211	293	W>C		No	ClinGen ExAC gnomAD
CA8576213 rs770993827	298	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760921231 CA8576212	298	R>W		No	ClinGen ExAC gnomAD
rs1567834987 CA399589010	300	M>V		No	ClinGen Ensembl
rs776786992 CA399589050	302	A>S		No	ClinGen ExAC gnomAD
rs776786992 CA8576214	302	A>T		No	ClinGen ExAC gnomAD
CA8576215 rs759592546	304	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA399589425 rs1463951018	321	A>T		No	ClinGen gnomAD
rs1567835131 CA399589574	328	T>I		No	ClinGen Ensembl
rs763530702 CA8576218	329	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8576219 rs763530702	329	D>N		No	ClinGen ExAC TOPMed gnomAD
rs751930898 CA399589584	330	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8576220 rs751930898	330	L>V		No	ClinGen ExAC TOPMed gnomAD
rs756972023 CA8576221	339	R>S		No	ClinGen ExAC gnomAD
CA8576233 rs372582548	344	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs775661172 CA8576234	345	G>S		No	ClinGen ExAC gnomAD
rs148041636 CA290761717	348	V>L		No	ClinGen ESP gnomAD
rs1226222067 CA399590223	349	P>A		No	ClinGen gnomAD
CA290761719 rs865840370	354	R>K		No	ClinGen Ensembl
CA399590301 rs1209663907	360	T>P		No	ClinGen gnomAD
rs751982251 CA8576237	361	P>L		No	ClinGen ExAC gnomAD
CA8576236 rs200910081	361	P>S		No	ClinGen 1000Genomes ExAC
CA8576239 rs375619478	364	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA399590326 rs375619478	364	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395143398 CA399590363	369	K>T		No	ClinGen gnomAD
rs1173431469 CA399590369	370	F>L		No	ClinGen gnomAD
rs544168841 CA8576242	371	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753281371 CA8576243	372	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	375	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399590414 rs1362992943	376	N>I		No	ClinGen gnomAD
rs1442982210 CA399590419	377	I>V		No	ClinGen gnomAD
CA8576244 rs754923573	385	T>I		No	ClinGen ExAC gnomAD
rs1276696693 CA399590487	387	R>Q		No	ClinGen gnomAD
rs1476032591 CA399592075	393	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1310769971 CA399592151	396	I>T		No	ClinGen TOPMed
CA8576269 rs754550279	396	I>V		No	ClinGen ExAC TOPMed gnomAD
CA399592173 rs1403508370	397	I>T		No	ClinGen TOPMed gnomAD
CA8576270 rs764696555	398	T>M		No	ClinGen ExAC gnomAD
CA290762440 rs369271937	401	F>L		No	ClinGen Ensembl
CA399592300 rs1484583299	406	M>I		No	ClinGen gnomAD
rs1567844853 CA399592312	407	F>S		No	ClinGen Ensembl
rs1189944326 CA399592360	411	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1285120643 CA399592373	412	H>N		No	ClinGen gnomAD
TCGA novel	412	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	413	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472838489 CA399592387	413	G>S		No	ClinGen TOPMed
TCGA novel	415	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208563158 CA399592439	416	M>I		No	ClinGen gnomAD
CA8576275 rs200532770	418	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204020106 CA399592474	420	A>P		No	ClinGen gnomAD
rs1204020106 CA399592476	420	A>S		No	ClinGen gnomAD
CA399592482 rs1181497040	420	A>V		No	ClinGen gnomAD
rs1405765288 CA399592491	421	V>A		No	ClinGen gnomAD
rs1415761751 CA399592488	421	V>L		No	ClinGen gnomAD
rs1415761751 CA399592484	421	V>M		No	ClinGen gnomAD
CA399592510 rs1455361981	422	W>C		No	ClinGen gnomAD
rs1343659011 CA399592504	422	W>L		No	ClinGen gnomAD
rs1030007724 CA290762445	423	M>I		No	ClinGen TOPMed gnomAD
CA399592515 rs1321370310	423	M>L		No	ClinGen gnomAD
CA399592551 rs1188443948	426	R>T		No	ClinGen gnomAD
TCGA novel	429	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146036659 CA8576277	429	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs955212628 CA290762447	429	R>W		No	ClinGen TOPMed gnomAD
rs1317586374 CA399592609	432	S>T		No	ClinGen gnomAD
rs940991057 CA290762453	435	N>I		No	ClinGen Ensembl
rs1430466592 CA399592661	435	N>K		No	ClinGen gnomAD
rs750180732 CA8576313	439	M>T		No	ClinGen ExAC gnomAD
CA290762570 rs765857213	439	M>V		No	ClinGen gnomAD
CA8576314 rs755267539	440	F>L		No	ClinGen ExAC gnomAD
rs937634474 CA290762574	442	T>I		No	ClinGen Ensembl
rs867971055 CA290762575	447	R>*		No	ClinGen Ensembl
rs1056191855 CA290762578	452	L>S		No	ClinGen Ensembl
rs752859402 CA8576316	458	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8576317 rs758546996	460	T>A		No	ClinGen ExAC gnomAD
rs1210541436 CA399593248	467	C>F		No	ClinGen gnomAD
rs1292356413 CA399593299	470	K>R		No	ClinGen TOPMed
rs753796165 CA8576319	471	S>C		No	ClinGen ExAC gnomAD
TCGA novel	471	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399593327 rs1184527849	472	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399593349 rs1176425712	473	N>T		No	ClinGen gnomAD
CA8576320 rs771385911	474	I>T		No	ClinGen ExAC TOPMed gnomAD
CA399593373 rs1410202083	474	I>V		No	ClinGen TOPMed
CA399593382 rs1223838925	475	F>V		No	ClinGen Ensembl
CA399593440 rs1472458746	478	S>A		No	ClinGen gnomAD
CA399593491 rs1157645236	480	S>C		No	ClinGen gnomAD
CA399593515 rs1352155398	481	V>I		No	ClinGen gnomAD
rs746171513 CA8576322	482	R>Q		No	ClinGen ExAC gnomAD
rs201792350 CA8576321	482	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs770040745 CA8576323	483	P>L		No	ClinGen ExAC TOPMed gnomAD
CA399593625 rs1473734195	484	M>I		No	ClinGen gnomAD
CA8576325 rs762479953	484	M>T		No	ClinGen ExAC gnomAD
CA8576326 rs367628656	485	F>L		No	ClinGen ESP ExAC gnomAD
rs1294855964 CA399593763	490	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774015063 CA8576345	491	E>K		No	ClinGen ExAC gnomAD
CA290762660 rs757323755	493	T>A		No	ClinGen Ensembl
CA8576346 rs138172466	493	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs771707983 CA8576347	495	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8576348 rs773324387	496	G>R		No	ClinGen ExAC gnomAD
TCGA novel	497	N>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766219895 CA399594012	497	N>K		No	ClinGen ExAC gnomAD
rs760669174 CA8576349	497	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs147306624 CA8576351	499	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1359581780 CA399594082	499	V>I		No	ClinGen gnomAD
rs1359581780 CA399594087	499	V>L		No	ClinGen gnomAD
rs1005848561 CA290762675	503	N>S		No	ClinGen Ensembl
rs764165065 CA8576353	506	L>F		No	ClinGen ExAC gnomAD
TCGA novel	507	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576355 rs757393538	507	P>R		No	ClinGen ExAC gnomAD
CA8576354 rs201011997	507	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1280969658 CA399594415	513	P>L		No	ClinGen gnomAD
rs767551542 CA8576356	515	P>S		No	ClinGen ExAC TOPMed gnomAD
CA399594541 rs1254581382	518	I>V		No	ClinGen TOPMed gnomAD
CA399594573 rs1466647236	519	D>E		No	ClinGen gnomAD
rs1009568244 CA290761660	521	I>L		No	ClinGen gnomAD
rs767604668 CA8576376	522	W>*		No	ClinGen ExAC gnomAD
rs761261290 CA8576378	524	I>M		No	ClinGen ExAC gnomAD
CA8576377 rs750460108	524	I>V		No	ClinGen ExAC gnomAD
CA8576380 COSM1679827 rs754370235	530	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	533	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868257133 CA290761674	533	N>S		No	ClinGen Ensembl
TCGA novel	540	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752421243 CA8576383	541	V>L		No	ClinGen ExAC TOPMed
CA8576384 rs758085544	545	I>V		No	ClinGen ExAC gnomAD
CA399574751 rs1194463764	546	I>T		No	ClinGen TOPMed
CA399574760 rs1288067447	547	H>N		No	ClinGen gnomAD
TCGA novel	547	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230465964 CA399574813	550	F>L		No	ClinGen gnomAD
CA8576387 rs139770191	550	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8576388 rs781058283	553	S>G		No	ClinGen ExAC TOPMed gnomAD
CA399574866 rs1253490261	554	L>M		No	ClinGen gnomAD
TCGA novel	554	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576389 rs745786517	555	S>C		No	ClinGen ExAC TOPMed gnomAD
CA399574889 rs1181216395	555	S>N		No	ClinGen gnomAD
rs763897972 CA8576390	555	S>R		No	ClinGen ExAC TOPMed gnomAD
CA399574904 rs1168733887	556	L>V		No	ClinGen gnomAD
rs1222072943 CA399574910	557	F>L		No	ClinGen TOPMed
CA399574947 rs1345430229	559	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8576391 rs775211788	559	H>Y		No	ClinGen ExAC gnomAD
rs745810882 CA8576408	560	I>M		No	ClinGen ExAC gnomAD
rs149805487 CA8576393	560	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs975275755 CA290761691	560	I>V		No	ClinGen Ensembl
rs769677289 CA8576409	563	K>R		No	ClinGen ExAC gnomAD
CA399577073 rs1365283881	568	I>M		No	ClinGen TOPMed gnomAD
rs779826357 CA8576410	568	I>V		No	ClinGen ExAC gnomAD
CA8576411 rs749142430	569	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1249234743 CA399577104	571	G>R		No	ClinGen gnomAD
CA399577112 rs1346904346	571	G>V		No	ClinGen gnomAD
rs992361615 CA290762140	572	F>L		No	ClinGen TOPMed
CA290762137 rs558687761	572	F>Y		No	ClinGen Ensembl
CA399577129 rs1180072191	573	I>L		No	ClinGen TOPMed
CA8576412 rs768437493	574	P>A		No	ClinGen ExAC gnomAD
rs1482791268 CA399577306	580	T>I		No	ClinGen TOPMed
rs770938788 CA399577432	585	Y>C		No	ClinGen ExAC gnomAD
CA8576415 rs770938788	585	Y>S		No	ClinGen ExAC gnomAD
CA399577476 rs1190432004	587	V>I		No	ClinGen gnomAD
rs144777006 CA8576416	592	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA399577662 rs1188213965	594	W>S		No	ClinGen gnomAD
CA8576418 rs112081952	595	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA290762154 rs1045182771	595	T>S		No	ClinGen TOPMed
rs776125400 CA8576419	596	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8576420 rs367635343	597	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs767349131 CA8576422	600	H>R		No	ClinGen ExAC TOPMed gnomAD
rs764487894 CA8576421	600	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs756881568 CA8576423	603	E>D		No	ClinGen ExAC gnomAD
CA399578075 rs1433667183	610	I>T		No	ClinGen gnomAD
rs145633304 CA8576426	612	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA399578118 rs1347824556	612	F>L		No	ClinGen TOPMed
COSM1245760 rs780036781 CA8576427	615	M>I	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399578169 rs1201080114	615	M>V		No	ClinGen gnomAD
COSM1521516 rs1274101552 CA399578261	619	S>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399578320 rs754820314	623	S>C		No	ClinGen ExAC gnomAD
rs754820314 CA8576429	623	S>F		No	ClinGen ExAC gnomAD
CA399578326 rs1210573659	624	G>S		No	ClinGen TOPMed gnomAD
CA8576432 rs77268875	627	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147746945 CA8576431	627	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755663014 CA8576445	634	G>A		No	ClinGen ExAC gnomAD
rs753798724 CA8576447	638	F>C		No	ClinGen ExAC gnomAD
TCGA novel	638	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576448 rs117202885	641	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399578499 rs1445656888	642	V>F		No	ClinGen TOPMed
CA399578498 rs1445656888	642	V>L		No	ClinGen TOPMed
CA290762252 rs760024401	643	A>V		No	ClinGen Ensembl
CA8576451 rs758116548	650	M>I		No	ClinGen ExAC gnomAD
TCGA novel	652	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399578572 rs1403286881	653	F>L		No	ClinGen TOPMed gnomAD
CA399578566 rs1411213626	653	F>L		No	ClinGen gnomAD
rs781542880 CA8576452	655	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1389658963 CA399578588	656	L>W		No	ClinGen gnomAD
CA399578606 rs1314742760	659	R>C		No	ClinGen gnomAD
rs376300031 CA8576455	659	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376300031 CA8576454	659	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA290762269 COSM1521515 rs575815633	660	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8576457 rs144192654	660	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs774589412 CA8576458	661	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	662	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151155566 CA8576459	663	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394153589 CA399578635	664	R>W		No	ClinGen TOPMed
CA399578665 rs1480499797	668	L>V		No	ClinGen gnomAD
rs1567863412 CA399580817	670	T>A		No	ClinGen Ensembl
CA399580831 rs1404056208	672	N>S		No	ClinGen gnomAD
CA399580849 rs1361545649	675	G>R		No	ClinGen TOPMed gnomAD
CA399580882 rs1303955337	680	N>D		No	ClinGen TOPMed gnomAD
CA8576490 rs185595561	681	G>R	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8576491 rs752727287	682	P>L		No	ClinGen ExAC TOPMed gnomAD
CA399580896 rs1465728339	682	P>S		No	ClinGen gnomAD
rs1268922237 CA399581045	692	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs112247526 CA8576494	697	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399581121 rs1192563642	697	T>I		No	ClinGen gnomAD
rs1325316506 CA399581132	698	H>R		No	ClinGen TOPMed
CA399581154 rs1479971775	700	E>K		No	ClinGen gnomAD
rs150332921 CA399581185	701	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8576496 rs780479259	702	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1319070308 CA399581248	704	E>K		No	ClinGen gnomAD
rs1319070308 CA399581249	704	E>Q		No	ClinGen gnomAD
rs745565784 CA8576525	707	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399581538 rs1567864673	708	D>N		No	ClinGen Ensembl
rs897790143 CA290763519	708	D>V		No	ClinGen TOPMed
rs376546870 CA8576527	709	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1302845 CA399581579 rs1344107646	710	V>M	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1220963843 CA399584281	711	F>S		No	ClinGen TOPMed
rs1339106824 CA399584340	712	D>E		No	ClinGen TOPMed
CA8576553 rs770730405	713	F>S		No	ClinGen ExAC TOPMed gnomAD
CA399584432 rs1262397455	714	G>E		No	ClinGen gnomAD
CA399584495 rs1201869248	717	M>I		No	ClinGen gnomAD
CA290764040 rs926935948	717	M>T		No	ClinGen Ensembl
CA8576555 rs763111032	717	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8576556 rs764188376	718	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1599138547 CA399584520	719	H>P		No	ClinGen Ensembl
rs1483219729 CA399584572	721	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	722	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	722	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399584644 rs1190096127	724	T>S		No	ClinGen gnomAD
rs1567871469 CA399584647	725	I>V		No	ClinGen Ensembl
rs767962651 CA8576559	726	E>K		No	ClinGen ExAC gnomAD
rs756472204 CA8576561	727	Y>H		No	ClinGen ExAC gnomAD
rs866092970 CA399584798	731	C>S		No	ClinGen gnomAD
CA290764042 rs866092970	731	C>Y		No	ClinGen gnomAD
rs780441715 CA8576562	732	I>V		No	ClinGen ExAC gnomAD
TCGA novel	734	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576563 rs753579697	736	A>D		No	ClinGen ExAC gnomAD
TCGA novel	743	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs989470348 CA290764044	745	S>G		No	ClinGen Ensembl
rs1332649860 CA399585192	749	A>G		No	ClinGen gnomAD
rs1332649860 CA399585186	749	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8576605 rs758031329	750	Q>P		No	ClinGen ExAC gnomAD
CA399585514 rs1182404409	755	L>V		No	ClinGen gnomAD
CA399585549 rs1263346088	757	T>N		No	ClinGen gnomAD
rs1386158952 COSM1679829 CA399585560	758	M>T	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1299160920 CA399585555	758	M>V		No	ClinGen TOPMed
rs1383029666 CA399585628	762	I>V		No	ClinGen gnomAD
CA8576608 rs199785715	763	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8576609 rs781172509	765	S>G		No	ClinGen ExAC gnomAD
CA8576610 rs567300859	766	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8576611 rs755951354	767	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1467939195 CA399585790	768	S>N		No	ClinGen TOPMed
rs115331328 CA8576612	770	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138753905 CA8576615	772	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8576616 rs141898946	774	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA290764070 rs144220352	777	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8576617 rs144220352	777	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567872546 CA399586021	778	F>S		No	ClinGen Ensembl
CA399586148 rs1462121818	782	F>V		No	ClinGen gnomAD
CA399586181 rs1200797114	783	A>G		No	ClinGen TOPMed
CA399586211 rs1202501707	785	L>V		No	ClinGen gnomAD
CA399586283 rs1486679169	787	V>M		No	ClinGen gnomAD
CA399586515 rs1351836920	792	I>F		No	ClinGen TOPMed gnomAD
rs368531818 CA8576622	792	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351836920 CA399586488	792	I>V		No	ClinGen TOPMed gnomAD
CA399586588 rs1178273736	794	E>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1429933097 CA399586670	797	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel CA399586780 rs1599145248	802	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA399589683 rs1329227916	807	W>*		No	ClinGen gnomAD
CA8576664 rs140036720	812	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA399589806 rs1216150001	816	S>N		No	ClinGen gnomAD
CA399589829 rs1223628476	819	G>S		No	ClinGen gnomAD
CA399589862 rs1431883295	822	F>L		No	ClinGen gnomAD
rs976674451 CA290764815	823	L>S		No	ClinGen TOPMed gnomAD
TCGA novel	823	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8576668 rs760220142	824	P>R		No	ClinGen ExAC gnomAD
CA399589884 rs1422493950	825	F>S		No	ClinGen TOPMed
CA8576670 rs776657619	829	H>R		No	ClinGen ExAC gnomAD
rs765087589 CA8576672	831	R>G		No	ClinGen ExAC TOPMed gnomAD
rs758251014 CA8576674	831	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs765087589 CA8576673	831	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	834	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309322342 CA399590078	835	F>C		No	ClinGen gnomAD
CA8576675 rs767914703	836	E>D		No	ClinGen ExAC gnomAD
CA8576676 rs773278685	838	E>S		No	ClinGen ExAC gnomAD

No associated diseases with Q93050

3 regional properties for Q93050

Type	Name	Position	InterPro Accession
domain	Tubulin/FtsZ, GTPase domain	3 - 246	IPR003008
conserved_site	Tubulin, conserved site	142 - 148	IPR017975
domain	Tubulin/FtsZ, 2-layer sandwich domain	248 - 393	IPR018316

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Multi-pass membrane protein Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Multi-pass membrane protein Melanosome	Identified by mass spectrometry in melanosome fractions from stage I to stage IV
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

21 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.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
ficolin-1-rich granule membrane	The lipid bilayer surrounding a ficolin-1-rich granule.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
melanosome	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
phagocytic vesicle membrane	The lipid bilayer surrounding a phagocytic vesicle.
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 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.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.
vacuolar proton-transporting V-type ATPase complex	A proton-transporting two-sector ATPase complex found in the vacuolar membrane, where it acts as a proton pump to mediate acidification of the vacuolar lumen.
vacuolar proton-transporting V-type ATPase, V0 domain	The V0 domain of a proton-transporting V-type ATPase found in the vacuolar membrane.

2 GO annotations of molecular function

Name	Definition
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
proton-transporting ATPase activity, rotational mechanism	Enables the transfer of protons from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) = ADP + phosphate + H+(out), by a rotational mechanism.

6 GO annotations of biological process

Name	Definition
endosomal lumen acidification	Any process that reduces the pH of the endosomal lumen, 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.
proton transmembrane transport	The directed movement of a proton across a membrane.
regulation of macroautophagy	Any process that modulates the frequency, rate or extent of macroautophagy.
toxin transport	The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
vacuolar acidification	Any process that reduces the pH of the vacuole, measured by the concentration of the hydrogen ion.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32563	VPH1	V-type proton ATPase subunit a, vacuolar isoform	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
O97681	ATP6V0A2	V-type proton ATPase 116 kDa subunit a 2	Bos taurus (Bovine)	PR
Q29466	ATP6V0A1	V-type proton ATPase 116 kDa subunit a 1	Bos taurus (Bovine)	PR
Q9I8D0	ATP6V0A1	V-type proton ATPase 116 kDa subunit a 1	Gallus gallus (Chicken)	PR
Q9HBG4	ATP6V0A4	V-type proton ATPase 116 kDa subunit a 4	Homo sapiens (Human)	PR
Q13488	TCIRG1	V-type proton ATPase 116 kDa subunit a 3	Homo sapiens (Human)	PR
Q9Y487	ATP6V0A2	V-type proton ATPase 116 kDa subunit a 2	Homo sapiens (Human)	PR
P15920	Atp6v0a2	V-type proton ATPase 116 kDa subunit a 2	Mus musculus (Mouse)	PR
Q920R6	Atp6v0a4	V-type proton ATPase 116 kDa subunit a 4	Mus musculus (Mouse)	PR
Q9Z1G4	Atp6v0a1	V-type proton ATPase 116 kDa subunit a 1	Mus musculus (Mouse)	PR
P25286	Atp6v0a1	V-type proton ATPase 116 kDa subunit a 1	Rattus norvegicus (Rat)	PR
P30628	unc-32	V-type proton ATPase 116 kDa subunit a 1	Caenorhabditis elegans	PR
Q8RWZ7	VHA-a1	V-type proton ATPase subunit a1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SJT7	VHA-a2	V-type proton ATPase subunit a2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8W4S4	VHA-a3	V-type proton ATPase subunit a3	Arabidopsis thaliana (Mouse-ear cress)	PR
A1A5G6	atp6v0a1	V-type proton ATPase 116 kDa subunit a 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MGELFRSEEM	TLAQLFLQSE	AAYCCVSELG	ELGKVQFRDL	NPDVNVFQRK	FVNEVRRCEE
70	80	90	100	110	120
MDRKLRFVEK	EIRKANIPIM	DTGENPEVPF	PRDMIDLEAN	FEKIENELKE	INTNQEALKR
130	140	150	160	170	180
NFLELTELKF	ILRKTQQFFD	EMADPDLLEE	SSSLLEPSEM	GRGTPLRLGF	VAGVINRERI
190	200	210	220	230	240
PTFERMLWRV	CRGNVFLRQA	EIENPLEDPV	TGDYVHKSVF	IIFFQGDQLK	NRVKKICEGF
250	260	270	280	290	300
RASLYPCPET	PQERKEMASG	VNTRIDDLQM	VLNQTEDHRQ	RVLQAAAKNI	RVWFIKVRKM
310	320	330	340	350	360
KAIYHTLNLC	NIDVTQKCLI	AEVWCPVTDL	DSIQFALRRG	TEHSGSTVPS	ILNRMQTNQT
370	380	390	400	410	420
PPTYNKTNKF	TYGFQNIVDA	YGIGTYREIN	PAPYTIITFP	FLFAVMFGDF	GHGILMTLFA
430	440	450	460	470	480
VWMVLRESRI	LSQKNENEMF	STVFSGRYII	LLMGVFSMYT	GLIYNDCFSK	SLNIFGSSWS
490	500	510	520	530	540
VRPMFTYNWT	EETLRGNPVL	QLNPALPGVF	GGPYPFGIDP	IWNIATNKLT	FLNSFKMKMS
550	560	570	580	590	600
VILGIIHMLF	GVSLSLFNHI	YFKKPLNIYF	GFIPEIIFMT	SLFGYLVILI	FYKWTAYDAH
610	620	630	640	650	660
TSENAPSLLI	HFINMFLFSY	PESGYSMLYS	GQKGIQCFLV	VVALLCVPWM	LLFKPLVLRR
670	680	690	700	710	720
QYLRRKHLGT	LNFGGIRVGN	GPTEEDAEII	QHDQLSTHSE	DADEPSEDEV	FDFGDTMVHQ
730	740	750	760	770	780
AIHTIEYCLG	CISNTASYLR	LWALSLAHAQ	LSEVLWTMVI	HIGLSVKSLA	GGLVLFFFFT
790	800	810	820	830
AFATLTVAIL	LIMEGLSAFL	HALRLHWVEF	QNKFYSGTGF	KFLPFSFEHI	REGKFEE