AiPD: Autoinhibited Protein Database

Q969W9

Gene name	PMEPA1 (STAG1, TMEPAI)
Protein name	Protein TMEPAI
Names	Prostate transmembrane protein androgen induced 1, Solid tumor-associated 1 protein, Transmembrane prostate androgen-induced protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56937
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

181-285 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

181-285 (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

1 structures for Q969W9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q969W9-F1	Predicted				AlphaFoldDB

268 variants for Q969W9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1349502403 CA409701002	2	H>D		No	ClinGen TOPMed
CA9923267 rs111569629	3	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1441226703 CA409700962	7	V>G		No	ClinGen TOPMed
CA9923265 rs773094607	8	N>S		No	ClinGen ExAC TOPMed gnomAD
CA409700953 rs1374505690	9	S>G		No	ClinGen gnomAD
rs1170521269 CA409700945	10	T>A		No	ClinGen gnomAD
rs532526691 CA409700939	11	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9923263 rs532526691	11	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1486967304 CA409700935	12	A>T		No	ClinGen gnomAD
rs775612942 CA9923262	12	A>V		No	ClinGen ExAC gnomAD
CA409700929 rs1452128154	13	A>S		No	ClinGen gnomAD
CA409700924 rs1343116936	14	A>T		No	ClinGen TOPMed gnomAD
CA9923260 rs746018509	14	A>V		No	ClinGen ExAC
CA316825998 rs867061314	15	A>S		No	ClinGen gnomAD
CA409700906 rs1306948336	17	Q>*		No	ClinGen TOPMed gnomAD
rs546842988 CA9923254	17	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9923252 rs756723710	18	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1235039414 CA409700899	18	P>S		No	ClinGen gnomAD
rs1312045137 CA409700892	19	N>S		No	ClinGen gnomAD
CA409700871 rs1412766968	22	C>Y		No	ClinGen gnomAD
rs1461201833 CA409700845	26	C>S		No	ClinGen gnomAD
rs1166514720 CA409700833	27	K>R		No	ClinGen gnomAD
CA316825997 rs867603699	28	R>C		No	ClinGen Ensembl
CA409700792 rs1207470437	33	S>T		No	ClinGen TOPMed
rs867193235 CA316825995	34	M>I		No	ClinGen Ensembl
rs780910835 CA9923249	34	M>L		No	ClinGen ExAC gnomAD
CA9923248 rs754533422	35	E>V		No	ClinGen ExAC gnomAD
rs781430084	37	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA316263176 rs375069837	37	T>M		No	ClinGen ESP
rs372774379 CA9923210	39	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	40	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275207101 CA409430835	40	E>Q		No	ClinGen gnomAD
CA409430802 rs1568964125	42	V>A		No	ClinGen Ensembl
rs1288161432 CA409430769	45	I>V		No	ClinGen gnomAD
rs753679860 CA409430755	47	I>L		No	ClinGen ExAC TOPMed gnomAD
rs753679860 CA9923206	47	I>V		No	ClinGen ExAC TOPMed gnomAD
rs756138703 CA409430748	48	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9923204 rs756138703	48	V>M		No	ClinGen ExAC TOPMed gnomAD
CA409430744 rs1444883900	49	V>M		No	ClinGen gnomAD
CA316263154 rs757355092	50	V>L		No	ClinGen Ensembl
rs766428300 CA9923202	52	M>I		No	ClinGen ExAC TOPMed gnomAD
CA409430723 rs1260532648	52	M>V		No	ClinGen TOPMed
rs1348126479 CA409430711	53	V>A		No	ClinGen gnomAD
CA9923201 rs550221742	54	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs751677818 CA9923198	56	V>M		No	ClinGen ExAC TOPMed gnomAD
rs796107339 CA316263131	57	V>M		No	ClinGen Ensembl
rs1156403231 CA409430679	58	I>M		No	ClinGen gnomAD
CA9923194 rs749713555	62	L>M		No	ClinGen ExAC gnomAD
rs749713555 CA9923193	62	L>V		No	ClinGen ExAC gnomAD
CA409430646 rs1245428628	64	H>N		No	ClinGen gnomAD
CA409430624 rs1285783041	67	L>M		No	ClinGen gnomAD
rs778511750 CA9923191	69	A>T		No	ClinGen ExAC TOPMed gnomAD
CA409430607 rs140230608	70	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140230608 CA9923189	70	R>Q	Variant assessed as Somatic; 4.714e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9923190 rs571813112	70	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9923186 rs752618564	73	I>M		No	ClinGen ExAC TOPMed gnomAD
rs781311565 CA9923185	74	S>T		No	ClinGen ExAC TOPMed gnomAD
rs75896253 CA316263067	75	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs750581296 CA9923183	75	R>P		No	ClinGen ExAC TOPMed gnomAD
CA409430577 rs750581296	75	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9923184 rs75896253	75	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	76	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs914208196 CA316263039	77	S>C		No	ClinGen Ensembl
CA9923182 rs765527962	77	S>R		No	ClinGen ExAC gnomAD
rs754140174 CA9923180	78	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA409430557 rs1239501896	78	Q>R		No	ClinGen TOPMed
rs760977982 CA409430549	80	R>G		No	ClinGen ExAC TOPMed gnomAD
rs151173443 CA316263008	80	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151173443 CA9923177	80	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760977982 CA9923178	80	R>W		No	ClinGen ExAC TOPMed gnomAD
rs937066301 CA316263006	81	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	82	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253205597 CA409430538	82	R>T		No	ClinGen TOPMed
rs541257415 CA9923176	83	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs541257415 CA409430534	83	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA409430506 rs1420121681	87	S>P		No	ClinGen TOPMed
CA316257557 rs772874279	89	E>A		No	ClinGen ExAC TOPMed gnomAD
rs772874279 CA9923152	89	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1369377992 CA409429841	90	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1463517682 CA409429846	90	G>R		No	ClinGen gnomAD
CA409429843 rs1369377992	90	G>V		No	ClinGen gnomAD
rs747945203 CA9923150	94	P>L		No	ClinGen ExAC gnomAD
CA9923151 rs142098974	94	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs149086274 CA9923148	95	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9923149 rs149086274	95	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409429809 rs1351281772	96	E>K		No	ClinGen Ensembl
CA409429797 rs1357016162	97	S>T		No	ClinGen gnomAD
CA409429793 rs1264636062	98	T>A		No	ClinGen gnomAD
CA409429790 rs1242416827	98	T>I		No	ClinGen TOPMed gnomAD
CA409429784 rs1037310746 COSM1190293	99	V>A	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1037310746 CA316257507	99	V>G		No	ClinGen Ensembl
CA409429778 rs1445627207	100	S>L		No	ClinGen gnomAD
CA409429774 rs1369654046	101	G>D		No	ClinGen gnomAD
rs1373978954 CA409429767	102	N>S		No	ClinGen gnomAD
CA409429761 rs1392152801	103	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs924182556 CA316257480	103	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA409429750 rs1412799573	105	P>T		No	ClinGen TOPMed
CA9923138 rs752024691	107	P>L		No	ClinGen ExAC gnomAD
CA409429725 rs1343609278	107	P>S		No	ClinGen gnomAD
rs1198744478 CA409429711	109	V>I		No	ClinGen TOPMed
rs1343009802 CA409429706	110	Y>N		No	ClinGen gnomAD
CA409429693 rs1256856134	111	A>V		No	ClinGen TOPMed
CA409429680 rs1359036674	114	R>G		No	ClinGen gnomAD
rs1336362059 CA409429677	114	R>P		No	ClinGen TOPMed gnomAD
CA409429679 rs1359036674	114	R>W		No	ClinGen gnomAD
rs553598730 CA316257072	116	T>N		No	ClinGen 1000Genomes TOPMed
COSM1262587 CA409429664 rs1170956303	117	D>N	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs761429643 CA9923132	118	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA409429652 rs761429643	118	R>L		No	ClinGen ExAC TOPMed
CA409429641 rs1424172575	120	A>V		No	ClinGen gnomAD
CA409429638 rs1476690900	121	V>L		No	ClinGen TOPMed gnomAD
rs1476690900 CA409429639	121	V>M		No	ClinGen TOPMed gnomAD
rs746820553 CA9923130	122	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9923129 rs746820553	122	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs775546662 CA409429629	123	P>A		No	ClinGen ExAC TOPMed gnomAD
rs775546662 CA9923128	123	P>S		No	ClinGen ExAC TOPMed gnomAD
rs554178177 CA9923125	124	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9923126 rs554178177	124	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA409429619 rs1197103999	125	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs997306416 CA316257034	125	A>V		No	ClinGen Ensembl
CA9923124 rs756228687	127	R>G		No	ClinGen ExAC gnomAD
rs370013717 CA9923123	127	R>P		No	ClinGen ExAC TOPMed gnomAD
rs370013717 CA409429605	127	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA409429606 rs756228687	127	R>W		No	ClinGen ExAC gnomAD
rs41314918 VAR_062154 CA9923121	128	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP
rs1327893233 CA409429599	128	E>G		No	ClinGen TOPMed
CA9923120 rs755289276	129	R>C		No	ClinGen ExAC TOPMed gnomAD
CA409429594 rs1568959244 COSM3423748	129	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1224762894 CA409429587	130	F>S		No	ClinGen TOPMed
CA316256999 rs145317297	131	H>Q		No	ClinGen ESP TOPMed gnomAD
CA316257000 rs568659313	131	H>R		No	ClinGen 1000Genomes
CA409429577 rs904658844	132	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs904658844 CA316256995	132	R>S		No	ClinGen gnomAD
CA9923118 rs751974668	136	T>S		No	ClinGen ExAC gnomAD
CA9923117 rs766882231	138	P>R		No	ClinGen ExAC gnomAD
rs764596503 CA9923114	141	Q>R		No	ClinGen ExAC gnomAD
rs761414024 CA9923113	142	H>Q		No	ClinGen ExAC gnomAD
rs915473979 CA316256977	142	H>R		No	ClinGen TOPMed
rs1182291414 CA409429506	143	E>Q		No	ClinGen TOPMed gnomAD
rs753490197 CA9923112	145	D>E		No	ClinGen ExAC gnomAD
rs866594014 CA316256962	145	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA409429480 rs1235316883	147	P>T		No	ClinGen TOPMed gnomAD
rs760515530 CA9923110	151	S>L		No	ClinGen ExAC gnomAD
rs1368973064 CA409429409	157	E>D		No	ClinGen gnomAD
CA316256922 rs879093545	158	P>R		No	ClinGen Ensembl
rs1378149334 CA409429397	159	P>A		No	ClinGen TOPMed
TCGA novel	159	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409429327 rs1229183198	165	C>S		No	ClinGen gnomAD
CA409429323 rs1356111579	165	C>W		No	ClinGen gnomAD
rs149768434 CA9923105 COSM84738	166	T>I	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs149768434 CA9923106	166	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	167	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409429311 rs1170666003	167	L>V		No	ClinGen TOPMed
CA316256890 rs749576560	168	Q>H		No	ClinGen Ensembl
CA9923103 rs780627933	170	R>Q		No	ClinGen ExAC gnomAD
CA9923102 rs768910118	171	D>E		No	ClinGen ExAC gnomAD
rs373466486 CA409429231	173	E>D		No	ClinGen ESP TOPMed gnomAD
CA409429246 rs1400277764	173	E>K		No	ClinGen TOPMed
CA316256858 rs3204622	179	N>T		No	ClinGen Ensembl
rs972083684 CA316256852	180	R>Q		No	ClinGen Ensembl
rs373391782 CA9923100	180	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
TCGA novel	182	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409429086 rs1262921419	184	R>C		No	ClinGen TOPMed
rs546844708 CA9923096	184	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9923095 rs753438868 COSM1262588	185	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1451354521 CA409428944	193	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409428930 rs1288219560	194	S>R		No	ClinGen gnomAD
rs953397218 CA316256812	195	D>H		No	ClinGen Ensembl
TCGA novel	195	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354761575 CA409428902	196	L>M		No	ClinGen gnomAD
rs760458504 CA9923093	197	M>I		No	ClinGen ExAC gnomAD
CA409428869 COSM444096 rs1369834704	198	D>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA409428875 rs1237963077	198	D>Y		No	ClinGen gnomAD
CA9923092 rs752404030	199	S>G		No	ClinGen ExAC gnomAD
CA409428860 rs1160216156	199	S>N		No	ClinGen gnomAD
rs767148468 CA9923091	200	A>D		No	ClinGen ExAC gnomAD
CA409428851 rs1216299850	200	A>T		No	ClinGen TOPMed
rs1419929922 CA409428831	201	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs138422880 CA9923089	201	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761853684 CA9923087	204	G>D		No	ClinGen ExAC gnomAD
TCGA novel	204	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs972544281 CA316256785	205	P>H		No	ClinGen TOPMed
CA9923086 rs776762747	205	P>S		No	ClinGen ExAC TOPMed gnomAD
CA409428776 rs768852854	207	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9923085 rs768852854	207	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9923084 rs747176594	208	P>A		No	ClinGen ExAC gnomAD
TCGA novel	208	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751873496	209	S>A	Variant assessed as Somatic; 5.387e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs751873496	209	S>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA409428744 rs1267196991	210	S>C		No	ClinGen gnomAD
CA409428745 rs1267196991	210	S>R		No	ClinGen gnomAD
CA316256755 rs575029358	211	N>K		No	ClinGen Ensembl
CA9923081 COSM246681 rs146362224	211	N>T	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1488824162 CA409428711	212	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1157755496 CA409428709	213	G>S		No	ClinGen TOPMed
TCGA novel	216	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409428657 rs142295639	217	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142295639 CA9923078	217	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs997611591 CA316256710	218	C>F		No	ClinGen Ensembl
COSM3707863 rs1268024717 CA409428640	219	Y>H	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs6092514 CA409428624	220	G>R		No	ClinGen TOPMed gnomAD
rs6092514 CA316256707	220	G>S		No	ClinGen TOPMed gnomAD
CA9923075 rs755686591	220	G>V		No	ClinGen ExAC gnomAD
TCGA novel	222	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409428602 rs1295921847	222	G>S		No	ClinGen gnomAD
CA9923073 rs767219337	223	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1433110338 CA409428572	224	R>L		No	ClinGen gnomAD
CA316256681 rs1030766379 CA316256680	225	M>I		No	ClinGen TOPMed
rs1196484107 CA409428570	225	M>L		No	ClinGen gnomAD
CA409428532 rs1262955627	227	G>E		No	ClinGen TOPMed gnomAD
rs904732414 CA316256671	228	P>L		No	ClinGen Ensembl
CA409428525 rs1484385837	228	P>S		No	ClinGen gnomAD
CA9923066 rs760841479	231	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1219210474 CA409428471	233	S>N		No	ClinGen gnomAD
CA9923064 rs139004472	234	E>D		No	ClinGen ESP ExAC gnomAD
CA9923063 rs746214641	235	V>A		No	ClinGen ExAC gnomAD
CA9923061 rs771432193	236	I>M		No	ClinGen ExAC gnomAD
rs774912736 CA9923062	236	I>V		No	ClinGen ExAC TOPMed gnomAD
CA409428427 rs1464054722	237	G>S		No	ClinGen gnomAD
CA409428409 rs1401869783	238	H>R		No	ClinGen gnomAD
rs749741356 CA9923060	240	P>L		No	ClinGen ExAC gnomAD
rs755633592 CA9923058	241	G>A		No	ClinGen ExAC gnomAD
rs755633592 CA409428370	241	G>V		No	ClinGen ExAC gnomAD
rs754731494 CA9923055	243	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9923056 rs780680241	243	S>T		No	ClinGen ExAC gnomAD
rs1239942075 CA409428348	244	F>L		No	ClinGen TOPMed
rs751302844 CA9923054	245	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs766105571 CA9923053	246	H>D		No	ClinGen ExAC gnomAD
CA409428335 rs1317285435	246	H>Q		No	ClinGen gnomAD
rs371396831 CA9923051	247	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs919228485 CA316256631	250	S>N		No	ClinGen Ensembl
rs1036436706 CA316256624	251	G>R		No	ClinGen Ensembl
CA9923050 rs377642904	252	P>L	Variant assessed as Somatic; 0.0001065 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	252	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9923048 rs267606017	254	S>F		No	ClinGen ExAC gnomAD
rs1568958519 CA409428255	256	L>R		No	ClinGen Ensembl
CA409428251 rs1448148442	257	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA316256598 rs909072074	258	G>A		No	ClinGen TOPMed gnomAD
rs767620625 CA9923047	258	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs759744822 CA409428223	259	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9923046 rs759744822	259	T>S		No	ClinGen ExAC TOPMed gnomAD
CA409428214 rs1443065402	260	R>L		No	ClinGen TOPMed gnomAD
CA409428217 rs1443065402	260	R>Q		No	ClinGen TOPMed gnomAD
rs774716254 CA409428219	260	R>W		No	ClinGen ExAC gnomAD
CA409428197 rs1382235989	262	H>Y		No	ClinGen gnomAD
CA316256597 rs145143720	263	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA316256564 rs985942334	263	H>Q		No	ClinGen Ensembl
CA9923044 rs145143720	263	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA409428157 rs749690245	265	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA409428165 rs1457374443	265	H>Y		No	ClinGen gnomAD
CA409428153 rs1211587692	266	I>V		No	ClinGen gnomAD
rs1243289625 CA409428143	267	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1307584798 CA409428135	267	A>V		No	ClinGen TOPMed
CA9923042 rs148829733	268	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1309341106 CA409428131	268	P>S		No	ClinGen TOPMed gnomAD
CA409428133 rs1309341106	268	P>T		No	ClinGen TOPMed gnomAD
CA9923038 rs373142936	271	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA409428098 rs1294526538	271	S>T		No	ClinGen Ensembl
COSM1028429 CA409428091 rs1391883501	272	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9923037 rs746606191	273	A>T		No	ClinGen ExAC gnomAD
CA409428064 rs949724559	274	I>M		No	ClinGen TOPMed gnomAD
CA409428067 rs1568958397	274	I>T		No	ClinGen Ensembl
rs779713789 CA9923036	275	W>L		No	ClinGen ExAC gnomAD
CA316256507 rs923186270	276	S>N		No	ClinGen TOPMed gnomAD
CA409427990 rs1362164723	280	D>V		No	ClinGen gnomAD
rs150116472 CA9923034	282	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA409427931 rs1489149133	285	H>Q		No	ClinGen TOPMed gnomAD
CA9923032 rs757276494	286	P>S		No	ClinGen ExAC gnomAD

No associated diseases with Q969W9

No regional properties for Q969W9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q969W9

Functions

		Description
EC Number
Subcellular Localization	Early endosome membrane; Single-pass membrane protein Golgi apparatus membrane; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
early endosome membrane	The lipid bilayer surrounding an early endosome.
endosome membrane	The lipid bilayer surrounding an endosome.
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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
R-SMAD binding	Binding to a receptor-regulated SMAD signaling protein.
WW domain binding	Binding to a WW domain of a protein, a small module composed of 40 amino acids and plays a role in mediating protein-protein interactions via proline-rich regions.

4 GO annotations of biological process

Name	Definition
androgen receptor signaling pathway	The series of molecular signals initiated by androgen binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
negative regulation of pathway-restricted SMAD protein phosphorylation	Any process that decreases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
negative regulation of SMAD protein complex assembly	Any process that decreases the rate, frequency, or extent of SMAD protein complex assembly. SMAD protein complex assembly is the aggregation, arrangement and bonding together of a set of components to form a protein complex that contains SMAD proteins.
negative regulation of transforming growth factor beta receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9D7R2	Pmepa1	Protein TMEPAI	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MHRLMGVNST	AAAAAGQPNV	SCTCNCKRSL	FQSMEITELE	FVQIIIIVVV	MMVMVVVITC
70	80	90	100	110	120
LLSHYKLSAR	SFISRHSQGR	RREDALSSEG	CLWPSESTVS	GNGIPEPQVY	APPRPTDRLA
130	140	150	160	170	180
VPPFAQRERF	HRFQPTYPYL	QHEIDLPPTI	SLSDGEEPPP	YQGPCTLQLR	DPEQQLELNR
190	200	210	220	230	240
ESVRAPPNRT	IFDSDLMDSA	RLGGPCPPSS	NSGISATCYG	SGGRMEGPPP	TYSEVIGHYP
250	260	270	280
GSSFQHQQSS	GPPSLLEGTR	LHHTHIAPLE	SAAIWSKEKD	KQKGHPL