AiPD: Autoinhibited Protein Database

Q9NZJ7

Gene name	MTCH1 (PSAP, CGI-64, UNQ1871/PRO4314)
Protein name	Mitochondrial carrier homolog 1
Names	Presenilin-associated protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23787
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-377 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-377 (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 Q9NZJ7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NZJ7-F1	Predicted				AlphaFoldDB

263 variants for Q9NZJ7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1049218663 CA137449749	2	G>A		No	ClinGen TOPMed gnomAD
rs746070892 CA3782673	3	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1322996002 CA363848244	3	A>P		No	ClinGen TOPMed
CA363848240 rs746070892	3	A>V		No	ClinGen ExAC TOPMed gnomAD
rs948192706 CA137449737	4	S>P		No	ClinGen TOPMed
rs1246146125 CA363848225	6	P>A		No	ClinGen TOPMed gnomAD
rs959949185 CA137449720	6	P>R		No	ClinGen Ensembl
rs1246146125 CA363848224	6	P>S		No	ClinGen TOPMed gnomAD
CA363848218 rs1327358435	7	E>V		No	ClinGen TOPMed
CA363848209 rs1360410336	8	V>A		No	ClinGen TOPMed gnomAD
rs1360410336 CA363848208	8	V>G		No	ClinGen TOPMed gnomAD
rs1332158484 CA363848202	9	A>G		No	ClinGen TOPMed gnomAD
rs1332158484 CA363848203	9	A>V		No	ClinGen TOPMed gnomAD
CA137449713 rs1033982796	10	P>S		No	ClinGen Ensembl
rs1187658042 CA363848183	12	A>D		No	ClinGen TOPMed
rs1396970234 CA363848186	12	A>T		No	ClinGen gnomAD
rs1187658042 CA363848181	12	A>V		No	ClinGen TOPMed
CA363848179 rs1298900465	13	R>G		No	ClinGen TOPMed gnomAD
CA363848169 rs1388626266	14	G>V		No	ClinGen gnomAD
rs963123343 CA137449647	15	G>C		No	ClinGen TOPMed gnomAD
rs202185562 CA137449645	16	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564000422 CA3782670	16	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3782669 rs202185562	16	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	17	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251706903 CA363848160	17	A>T		No	ClinGen gnomAD
CA363848151 rs1203914895	18	G>E		No	ClinGen gnomAD
rs1328296117 CA363848152	18	G>W		No	ClinGen TOPMed
rs1481859943 CA363848140	19	M>I		No	ClinGen gnomAD
CA363848134 rs1293552770	20	A>V		No	ClinGen gnomAD
CA363848130 rs1427174492	21	G>E		No	ClinGen gnomAD
CA363848122 rs1348812830	22	A>V		No	ClinGen TOPMed
rs779583581 CA3782665	23	G>R		No	ClinGen ExAC gnomAD
rs1241110427 CA363848112	24	A>G		No	ClinGen gnomAD
rs1241110427 CA363848111	24	A>V		No	ClinGen gnomAD
rs1583272770 CA363848105	25	G>V		No	ClinGen Ensembl
CA363848104 rs977375162	26	A>P		No	ClinGen TOPMed gnomAD
rs977375162 CA363848103	26	A>S		No	ClinGen TOPMed gnomAD
CA137449615 rs977375162	26	A>T		No	ClinGen TOPMed gnomAD
CA137449610 rs998357478	26	A>V		No	ClinGen TOPMed gnomAD
rs1305236329 CA363848097	27	G>E		No	ClinGen TOPMed gnomAD
CA363848099 rs1368926854	27	G>R		No	ClinGen TOPMed gnomAD
rs1583272727 CA363848094	28	A>T		No	ClinGen Ensembl
rs1412335683 CA363848088	29	R>G		No	ClinGen TOPMed
CA137449598 rs990012161	32	A>P		No	ClinGen TOPMed gnomAD
rs1471446243 CA363848066	32	A>V		No	ClinGen gnomAD
CA137449596 rs1039675225	33	A>T		No	ClinGen Ensembl
CA137449586 rs953310131	34	A>V		No	ClinGen TOPMed
CA137449563 rs947337353	36	V>G		No	ClinGen Ensembl
rs1368762939 CA363848048	36	V>L		No	ClinGen TOPMed
rs1427152693 CA363848042	37	E>*		No	ClinGen Ensembl
CA137449562 rs1043506956	39	R>*		No	ClinGen gnomAD
rs1308794153 CA363848028	39	R>P		No	ClinGen TOPMed
CA363848019 rs1199724312	41	R>G		No	ClinGen TOPMed gnomAD
rs1229335090 CA363848017	41	R>H		No	ClinGen gnomAD
CA137449551 rs946171565	42	D>H		No	ClinGen TOPMed gnomAD
CA137449539 rs913017454	43	P>L		No	ClinGen Ensembl
rs1206444410 CA363847998	44	P>L		No	ClinGen TOPMed gnomAD
rs1294346955 CA363847990	46	A>T		No	ClinGen TOPMed gnomAD
CA363847981 rs1233858882	47	H>P		No	ClinGen TOPMed
rs561474203 CA137449522	48	R>H		No	ClinGen 1000Genomes
rs1273910007 CA363847967	49	A>V		No	ClinGen TOPMed
CA137449517 rs541894384	50	H>L		No	ClinGen 1000Genomes
CA363847963 rs1351297416	50	H>Y		No	ClinGen TOPMed gnomAD
CA137449513 rs976102618	51	P>S		No	ClinGen TOPMed
rs1267484277 CA363847953	52	R>S		No	ClinGen gnomAD
CA3782662 rs767306901	53	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA363847937 rs762198203	54	P>H		No	ClinGen ExAC gnomAD
CA3782661 rs762198203	54	P>L		No	ClinGen ExAC gnomAD
rs1269871813 CA363847934	55	R>W		No	ClinGen TOPMed
CA363847925 rs1405799185	56	P>L		No	ClinGen gnomAD
CA363847923 rs1330530409	57	A>P		No	ClinGen gnomAD
rs199897411 CA3782660	57	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363847914 rs1386270822	58	A>V		No	ClinGen gnomAD
rs552930498 CA3782659	60	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363847888 rs1431919500	62	A>V		No	ClinGen gnomAD
rs1176621307 CA363847882	63	R>H		No	ClinGen gnomAD
rs1477488240 CA363847881	64	R>G		No	ClinGen gnomAD
CA137449469 rs888050760	65	M>I		No	ClinGen TOPMed
CA137449459 rs979748624	66	D>G		No	ClinGen Ensembl
TCGA novel	67	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA137449448 rs1028299797	69	S>P		No	ClinGen TOPMed
rs1194671656 CA363847840	70	G>E		No	ClinGen gnomAD
CA137449440 rs1012421292	70	G>R		No	ClinGen TOPMed
rs545428760 CA137449438	71	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1206771625 CA363847810	75	G>V		No	ClinGen TOPMed gnomAD
rs1362957806 CA363847807	76	D>Y		No	ClinGen TOPMed
CA363847800 rs1325352365	77	N>D		No	ClinGen gnomAD
rs578202903 CA3782658	78	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA363847786 rs1055587517	79	P>Q		No	ClinGen TOPMed
rs1055587517 CA137449423	79	P>R		No	ClinGen TOPMed
CA137449431 rs868404757	79	P>S		No	ClinGen Ensembl
CA363847773 rs1273334679	81	T>I		No	ClinGen gnomAD
rs1344550290 CA363847776	81	T>S		No	ClinGen gnomAD
rs1266899975 CA363847760	83	A>G		No	ClinGen TOPMed
rs1432923299 CA363847745	85	F>L		No	ClinGen gnomAD
CA3782656 rs769819830	86	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769819830 CA137449407	86	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1409027378 CA363847718	90	A>V		No	ClinGen gnomAD
rs1177582446 CA363847714	91	G>D		No	ClinGen gnomAD
TCGA novel	91	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363847687 rs1188343733	96	S>C		No	ClinGen TOPMed
rs1041391575 CA137449386	99	L>V		No	ClinGen TOPMed
CA137449384 rs867612249	100	L>I		No	ClinGen Ensembl
rs747290823 CA363847654	101	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3782652 rs747290823	101	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs778764027 CA3782651	102	V>E		No	ClinGen ExAC gnomAD
rs1361724109 CA363847568	110	H>Y		No	ClinGen gnomAD
rs939724253 CA137445708	113	M>I		No	ClinGen gnomAD
CA363847532 rs1336473287	115	P>S		No	ClinGen gnomAD
rs1561911231 CA363847526	116	T>S		No	ClinGen Ensembl
CA363847514 rs1410893491	118	G>R		No	ClinGen gnomAD
CA3782630 rs373579558	119	T>A		No	ClinGen ESP ExAC gnomAD
rs368915787 CA3782629	119	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3782627 rs745854778	120	N>S		No	ClinGen ExAC TOPMed gnomAD
CA363847470 rs1242746186	125	K>R		No	ClinGen TOPMed
CA363847462 rs1410145917	126	V>A		No	ClinGen gnomAD
rs369569015 CA3782624	127	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs753018828	135	Y>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA363847269 rs1390202425	136	A>T		No	ClinGen TOPMed gnomAD
rs200017678 CA363859251	139	I>L		No	ClinGen gnomAD
rs200017678 CA137476745	139	I>V		No	ClinGen gnomAD
CA3782599 rs765965617	140	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1466405250 CA363859236	141	Q>R		No	ClinGen gnomAD
rs1391140268 CA363859217	144	G>S		No	ClinGen TOPMed
CA3782596 rs750479815	146	I>M		No	ClinGen ExAC gnomAD
rs756148781 CA3782597	146	I>T		No	ClinGen ExAC gnomAD
CA137476701 rs868156516	147	G>V		No	ClinGen Ensembl
CA3782594 rs761932454	150	R>*		No	ClinGen ExAC gnomAD
CA363859155 COSM1754773 rs1246778699 COSM1754774	150	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA363859122 rs1205934617	153	S>G		No	ClinGen gnomAD
CA363859096 rs1230629012	155	R>W		No	ClinGen TOPMed gnomAD
rs776647779 CA3782590	159	N>S		No	ClinGen ExAC gnomAD
rs747325086 CA137476634	163	T>A		No	ClinGen Ensembl
CA137476632 rs951989042	164	V>A		No	ClinGen Ensembl
CA363858990 rs1317129316	164	V>M		No	ClinGen gnomAD
rs373286947 CA3782586	165	T>I		No	ClinGen ESP ExAC gnomAD
CA363858962 rs1561909170	166	R>P		No	ClinGen Ensembl
rs1302410389 CA363858967	166	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA363858959 rs1464725459	167	G>S		No	ClinGen gnomAD
rs747775404 CA3782585	168	S>I		No	ClinGen ExAC TOPMed gnomAD
rs778556603 CA3782584	169	M>T		No	ClinGen ExAC gnomAD
rs768969012 CA3782583	170	K>R		No	ClinGen ExAC gnomAD
CA363858830 rs1325426533	172	V>F		No	ClinGen TOPMed gnomAD
CA363858799 rs1291393810	174	P>L		No	ClinGen gnomAD
CA3782562 rs371851816	179	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs199823895 CA137476323	183	N>D		No	ClinGen 1000Genomes
rs907185288 CA137476321	183	N>S		No	ClinGen Ensembl
CA3782559 rs781739203	185	D>V		No	ClinGen ExAC gnomAD
rs1289157680 CA363858096	186	D>V		No	ClinGen gnomAD
rs757343087 CA3782558	187	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	198	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371746231 CA363857762	199	S>T		No	ClinGen TOPMed
CA363857700 rs1386234202	203	M>T		No	ClinGen TOPMed
rs1320277777 CA363857676	204	M>I		No	ClinGen gnomAD
rs748267263 CA3782536	207	V>A		No	ClinGen ExAC gnomAD
CA3782535 rs779224965	209	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	209	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477375067 CA363857588	210	M>V		No	ClinGen gnomAD
rs61753799 CA3782533	213	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA137476015 rs17854048	214	P>R		No	ClinGen Ensembl
rs1225945406 CA363857493	216	H>Q		No	ClinGen TOPMed
CA3782503 rs764720910	218	I>T		No	ClinGen ExAC gnomAD
rs759195401 CA3782502	220	M>I		No	ClinGen ExAC gnomAD
CA363857309 rs1414503487	220	M>R		No	ClinGen gnomAD
rs753484837 CA3782501 COSM1078591	221	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA363857297 rs1190642466	221	R>H		No	ClinGen TOPMed gnomAD
CA363857301 rs753484837	221	R>S		No	ClinGen ExAC TOPMed gnomAD
CA137475554 rs756871835	223	M>T		No	ClinGen Ensembl
CA363857167 rs750263128	229	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750263128 CA3782500	229	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA363857152 rs1561908111	230	E>V		No	ClinGen Ensembl
CA363857143 rs1184627045	231	A>S		No	ClinGen gnomAD
rs761151722 CA3782499	231	A>V		No	ClinGen ExAC gnomAD
CA363857130 rs1251164305	232	K>R		No	ClinGen gnomAD
CA363857109 rs1324005791	234	S>G		No	ClinGen gnomAD
CA3782498 rs773786429	234	S>T		No	ClinGen ExAC gnomAD
CA363856400 rs1302494983	236	V>M		No	ClinGen TOPMed
rs1368682737 CA363856357	240	I>F		No	ClinGen TOPMed
rs771813210 CA3782471	240	I>T		No	ClinGen ExAC gnomAD
CA363856332 rs1236454099	242	K>N		No	ClinGen TOPMed
CA363856300 rs1461907588	245	K>E		No	ClinGen gnomAD
CA363856295 rs1275397338	245	K>R		No	ClinGen TOPMed
rs748071779 CA363856276	246	E>D		No	ClinGen ExAC TOPMed gnomAD
CA137474256 rs1015670965	250	L>V		No	ClinGen Ensembl
TCGA novel CA363856243 rs1193586456	252	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs183558462 CA3782467	254	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113503273 CA137472584	255	G>E		No	ClinGen Ensembl
rs1019030589 CA137472581	258	P>R		No	ClinGen TOPMed
rs1008940210 CA137472571	259	H>Y		No	ClinGen TOPMed
rs1347231071 CA363856161	263	D>N		No	ClinGen TOPMed
rs1269300713 CA363856154	264	V>M		No	ClinGen gnomAD
rs1210361175 CA363856113	269	G>D		No	ClinGen gnomAD
rs1468028451 CA363856096	272	L>M		No	ClinGen gnomAD
rs1468028451 CA363856095	272	L>V		No	ClinGen gnomAD
CA3782458 rs775547171	278	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3782457 rs765344390	286	V>M		No	ClinGen ExAC TOPMed gnomAD
CA363855988 rs1334060865	288	D>N		No	ClinGen TOPMed gnomAD
CA363855979 rs1216927614	289	T>A		No	ClinGen TOPMed
rs907261828 CA137472549	290	P>T		No	ClinGen Ensembl
rs776741124 CA3782455	291	G>A		No	ClinGen ExAC TOPMed gnomAD
rs532519263 CA137472545	291	G>R		No	ClinGen 1000Genomes
rs776741124 CA363855966	291	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1459196787 CA363855951	294	G>E		No	ClinGen TOPMed gnomAD
rs1459196787 CA363855949	294	G>V		No	ClinGen TOPMed gnomAD
rs1388848981 CA363855944	295	N>S		No	ClinGen TOPMed gnomAD
rs1468109133 CA363855938	296	D>H		No	ClinGen TOPMed gnomAD
rs1468109133 CA363855939	296	D>N		No	ClinGen TOPMed gnomAD
rs1378850171 CA363855896	302	Q>*		No	ClinGen gnomAD
rs1175666074 CA363855891	302	Q>H		No	ClinGen TOPMed
CA363855559 rs1433585544	306	A>V		No	ClinGen gnomAD
rs1449784347 CA363855539	309	I>V		No	ClinGen TOPMed gnomAD
rs144365701 CA3782441	310	R>Q	Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1241291798 CA363855528	310	R>W		No	ClinGen gnomAD
CA363855504 rs1445462124	312	Y>C		No	ClinGen gnomAD
CA363855479 rs1178219758	314	K>N		No	ClinGen gnomAD
rs1347277457 CA363855461	316	V>A		No	ClinGen gnomAD
CA363855466 rs531393329	316	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3782439 rs531393329	316	V>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	317	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA137471746 rs1013286971	317	M>T		No	ClinGen gnomAD
rs759644173 CA3782438	317	M>V		No	ClinGen ExAC gnomAD
CA3782413 rs775499566	323	M>I		No	ClinGen ExAC gnomAD
rs1164042591 CA363855347	324	L>P		No	ClinGen gnomAD
rs769865009 CA3782412	325	T>S		No	ClinGen ExAC gnomAD
TCGA novel	328	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	328	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363855270 rs1184379216	333	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3782410 rs775977317	334	L>F		No	ClinGen ExAC gnomAD
CA363855240 rs1203051923	335	M>I		No	ClinGen gnomAD
CA3782409 rs770528051	335	M>V		No	ClinGen ExAC TOPMed gnomAD
CA363855178 rs1393026945	341	G>R		No	ClinGen gnomAD
CA363855098 rs745972175	348	P>A		No	ClinGen ExAC gnomAD
TCGA novel	348	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745972175 COSM1078589 CA3782378	348	P>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA363855092 rs1187516994	349	Y>H		No	ClinGen gnomAD
rs781477169 CA363855078	351	P>S		No	ClinGen ExAC gnomAD
CA3782377 rs781477169	351	P>T		No	ClinGen ExAC gnomAD
rs773269714 CA3782376	352	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3782375 rs751880012	357	I>V		No	ClinGen ExAC gnomAD
TCGA novel	358	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA137471442 rs940447490	361	K>N		No	ClinGen TOPMed
CA3782373 rs754837928	364	S>N		No	ClinGen ExAC gnomAD
rs1231975689 CA363854954	364	S>R		No	ClinGen gnomAD
CA3782335 rs779874269	367	G>R		No	ClinGen ExAC gnomAD
TCGA novel	367	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755922640 CA3782334	369	L>R		No	ClinGen ExAC gnomAD
COSM269627 CA363854321 rs1261354210	371	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA363854319 COSM1078588 rs1476429990	371	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA137471009 rs988363803	372	G>D		No	ClinGen Ensembl
TCGA novel	373	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363854309 rs1238482176	373	S>Y		No	ClinGen gnomAD
TCGA novel	375	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189232626 CA363854286	376	L>V		No	ClinGen TOPMed
COSM1286295 rs750316963 CA3782333	377	F>L	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1286295 rs1334453699 CA363854278	377	F>L	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA363854269 COSM245788 rs1561902003	378	R>C	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
CA137471005 rs199805585	379	R>G		No	ClinGen gnomAD
CA137471000 rs201349110	379	R>Q		No	ClinGen TOPMed gnomAD
rs751065380 CA3782330	380	V>L		No	ClinGen ExAC TOPMed gnomAD
CA363854245 rs1451038510	381	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763576695 CA3782329	384	S>P		No	ClinGen ExAC
rs1250903629 CA363854182	389	E>Q		No	ClinGen TOPMed gnomAD
CA3782325 rs759984168	390	E>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9NZJ7

9 regional properties for Q9NZJ7

Type	Name	Position	InterPro Accession
domain	Thioredoxin domain	132 - 259	IPR013766-1
domain	Thioredoxin domain	268 - 378	IPR013766-2
domain	Thioredoxin domain	376 - 504	IPR013766-3
conserved_site	Thioredoxin, conserved site	295 - 313	IPR017937-1
conserved_site	Thioredoxin, conserved site	416 - 434	IPR017937-2
domain	Protein disulfide-isomerase A5, N-terminal TRX-like b domain	26 - 137	IPR041865
domain	Protein disulfide-isomerase A5, TRX (a) domain	150 - 254	IPR046374-1
domain	Protein disulfide-isomerase A5, TRX (a) domain	275 - 377	IPR046374-2
domain	Protein disulfide-isomerase A5, TRX (a) domain	396 - 499	IPR046374-3

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion outer membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrial outer membrane	The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
neuronal ion channel clustering	The process in which voltage-gated ion channels become localized to distinct subcellular domains in the neuron. Specific targeting, clustering, and maintenance of these channels in their respective domains are essential to achieve high conduction velocities of action potential propagation.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
regulation of signal transduction	Any process that modulates the frequency, rate or extent of signal transduction.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q791T5	Mtch1	Mitochondrial carrier homolog 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGASDPEVAP	WARGGAAGMA	GAGAGAGARG	GAAAGVEARA	RDPPPAHRAH	PRHPRPAAQP
70	80	90	100	110	120
SARRMDGGSG	GLGSGDNAPT	TEALFVALGA	GVTALSHPLL	YVKLLIQVGH	EPMPPTLGTN
130	140	150	160	170	180
VLGRKVLYLP	SFFTYAKYIV	QVDGKIGLFR	GLSPRLMSNA	LSTVTRGSMK	KVFPPDEIEQ
190	200	210	220	230	240
VSNKDDMKTS	LKKVVKETSY	EMMMQCVSRM	LAHPLHVISM	RCMVQFVGRE	AKYSGVLSSI
250	260	270	280	290	300
GKIFKEEGLL	GFFVGLIPHL	LGDVVFLWGC	NLLAHFINAY	LVDDSVSDTP	GGLGNDQNPG
310	320	330	340	350	360
SQFSQALAIR	SYTKFVMGIA	VSMLTYPFLL	VGDLMAVNNC	GLQAGLPPYS	PVFKSWIHCW
370	380
KYLSVQGQLF	RGSSLLFRRV	SSGSCFALE