AiPD: Autoinhibited Protein Database

Q8IXX5

Gene name	TMEM183A (C1orf37)
Protein name	Transmembrane protein 183A
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:92703
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-155 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-155 (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 Q8IXX5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IXX5-F1	Predicted				AlphaFoldDB

272 variants for Q8IXX5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs267598310 CA1336863 RCV003006919	345	R>C	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1336516 rs369780991	2	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1336515 rs762819828	2	A>P		No	ClinGen ExAC TOPMed gnomAD
CA35618386 rs369780991	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760691849 CA1336518	3	R>Q		No	ClinGen ExAC gnomAD
CA35618389 rs1055859092	3	R>W		No	ClinGen TOPMed
rs766528433 CA1336519	4	G>R		No	ClinGen ExAC TOPMed gnomAD
CA35618400 rs949650815	5	P>R		No	ClinGen gnomAD
CA35618397 rs936978146	5	P>S		No	ClinGen TOPMed
rs902652421 CA35618406	6	G>D		No	ClinGen gnomAD
rs753120769 CA1336523	6	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM4143236 rs555362119 CA1336525	7	P>L	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs555362119 CA344276804	7	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758906893 CA1336524	7	P>S		No	ClinGen ExAC gnomAD
CA344276813 rs1340121975	9	G>D		No	ClinGen gnomAD
CA1336526 rs11558253 VAR_023205	10	R>M		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs893881558 CA35618411	11	P>L		No	ClinGen Ensembl
rs372079283 CA344276828	12	R>C		No	ClinGen gnomAD
rs372079283 CA35618414	12	R>G		No	ClinGen gnomAD
rs770319104 CA1336527	12	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770319104 CA344276829	12	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1336528 rs372517637	13	P>A		No	ClinGen ExAC TOPMed gnomAD
rs373833435 CA35618422	13	P>L		No	ClinGen Ensembl
CA35618420 rs372517637	13	P>S		No	ClinGen ExAC TOPMed gnomAD
CA344276831 rs372517637	13	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1213744590 CA344276838	14	D>G		No	ClinGen TOPMed
rs1201982991 CA344276834	14	D>N		No	ClinGen gnomAD
rs745509797 CA1336529	15	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1441486779 CA344276846	15	T>M		No	ClinGen gnomAD
rs769451350 CA1336530	19	P>S		No	ClinGen ExAC gnomAD
CA344276878 rs1478432334	20	K>N		No	ClinGen gnomAD
rs775199471 CA1336531	20	K>T		No	ClinGen ExAC gnomAD
rs1265845008 CA344276907	25	L>V		No	ClinGen TOPMed
rs1170643703 CA344276927	27	F>L		No	ClinGen gnomAD
CA1336532 rs749115582	29	A>S		No	ClinGen ExAC TOPMed gnomAD
CA344276938 rs1467858222	30	H>N		No	ClinGen gnomAD
CA1336533 rs768533828	30	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs761848085 CA1336535	31	D>G		No	ClinGen ExAC gnomAD
rs1300106010 CA344276952	32	A>T		No	ClinGen TOPMed gnomAD
rs1341283738 CA344276969	34	S>F		No	ClinGen gnomAD
rs954758743 CA35618442	34	S>P		No	ClinGen Ensembl
CA1336537 rs775134653	35	G>C		No	ClinGen ExAC TOPMed gnomAD
CA344276971 rs775134653	35	G>S		No	ClinGen ExAC TOPMed gnomAD
CA344276975 rs1316019540	35	G>V		No	ClinGen gnomAD
rs757638527 CA1336562	40	A>T		No	ClinGen ExAC gnomAD
CA344277013 rs1459350035	40	A>V		No	ClinGen gnomAD
CA1336563 rs768100958	41	D>N		No	ClinGen ExAC gnomAD
CA344277033 rs1389950565	43	A>D		No	ClinGen gnomAD
rs1389950565 CA344277035	43	A>V		No	ClinGen gnomAD
rs551330258 CA344277042	44	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344277046 rs1311191823	45	S>A		No	ClinGen gnomAD
rs1311191823 CA344277045	45	S>P		No	ClinGen gnomAD
CA35618552 rs1008693717	45	S>W		No	ClinGen TOPMed gnomAD
CA344277054 rs1356301509	46	D>V		No	ClinGen TOPMed
CA344277060 rs1288183803	47	P>Q		No	ClinGen TOPMed
CA344277065 rs1323042617	48	A>E		No	ClinGen gnomAD
rs140775257 CA1336566	48	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344277073 rs1571596086	49	V>G		No	ClinGen Ensembl
CA344277080 rs1265327485	51	R>G		No	ClinGen gnomAD
rs144664475 CA1336567	51	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA344277084 rs1200845951	51	R>S		No	ClinGen gnomAD
rs1571596131 CA344277087	52	S>A		No	ClinGen Ensembl
rs1558033646 CA344277096	53	G>A		No	ClinGen Ensembl
rs747975881 CA1336570	54	R>*		No	ClinGen ExAC gnomAD
CA344277107 rs1571596195	55	V>G		No	ClinGen Ensembl
rs1164209762 CA344277112	56	K>R		No	ClinGen TOPMed gnomAD
CA35618564 rs1027882397	58	A>V		No	ClinGen Ensembl
CA1336573 rs746989938	59	V>L		No	ClinGen ExAC gnomAD
CA1336574 rs769992221	60	A>V		No	ClinGen ExAC TOPMed gnomAD
rs958582534 CA35618570	61	N>D		No	ClinGen gnomAD
rs1234543847 CA344277143	61	N>S		No	ClinGen TOPMed
CA1336576 rs763030565	62	A>P		No	ClinGen ExAC gnomAD
rs768931026 CA1336577	63	V>L		No	ClinGen ExAC
rs774539984 CA1336578	64	Q>E		No	ClinGen ExAC gnomAD
CA344277169 rs1311402660	65	Q>H		No	ClinGen gnomAD
CA344277208 rs1194509989	69	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1338037201 CA344277213	70	L>F		No	ClinGen TOPMed
rs759104793 CA1336604	71	C>R		No	ClinGen ExAC TOPMed gnomAD
rs752361146 CA1336606	73	L>F		No	ClinGen ExAC gnomAD
TCGA novel	75	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35618867 rs537568009	76	S>F		No	ClinGen Ensembl
rs1174971319 CA344277257	77	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA344277256 rs1174971319	77	Q>E		No	ClinGen gnomAD
rs866636201 CA35618868	77	Q>H		No	ClinGen TOPMed gnomAD
CA344277266 rs1571598639	78	V>G		No	ClinGen Ensembl
rs777655896 CA1336608	79	P>S		No	ClinGen ExAC
rs6678040 VAR_023206 CA1336609	80	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1336610 rs757224949	80	A>V		No	ClinGen ExAC gnomAD
rs781301118 CA1336611	81	E>D		No	ClinGen ExAC gnomAD
CA344277294 rs1429313508	83	A>S		No	ClinGen gnomAD
CA344277300 rs1276970250	84	L>F		No	ClinGen TOPMed gnomAD
CA344277299 rs1276970250	84	L>V		No	ClinGen TOPMed gnomAD
CA344277304 rs1440736675	85	S>A		No	ClinGen gnomAD
rs543229902 CA35618879	85	S>F		No	ClinGen 1000Genomes
CA1336612 rs745843251	88	G>R		No	ClinGen ExAC gnomAD
CA1336613 rs755055813	89	E>K		No	ClinGen ExAC TOPMed
CA344277341 rs1356164522	91	C>G		No	ClinGen gnomAD
CA1336614 rs778925002	92	D>N		No	ClinGen ExAC gnomAD
CA1336615 rs748388450	94	I>S		No	ClinGen ExAC TOPMed gnomAD
CA1336618 rs747401465	99	E>D		No	ClinGen ExAC gnomAD
CA344277410 rs1571598858	100	M>R		No	ClinGen Ensembl
CA344277418 rs1416437963	101	D>A		No	ClinGen TOPMed gnomAD
CA1336620 rs777169982	102	A>T		No	ClinGen ExAC gnomAD
rs1441176304 CA344277426	102	A>V		No	ClinGen gnomAD
CA1336621 rs368961237	104	E>K		No	ClinGen ESP ExAC gnomAD
rs764792828 CA1336622	105	E>D		No	ClinGen ExAC gnomAD
CA1336624 rs762631269	107	I>F		No	ClinGen ExAC gnomAD
rs140154702 CA1336626	108	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140154702 CA1336627 COSM1337941	108	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs576335290 CA1336625	108	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA1336628 rs767257001	110	R>T		No	ClinGen ExAC gnomAD
rs1031440497 CA35618919	111	T>S		No	ClinGen Ensembl
CA1336630 rs756062791	113	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1336629 rs200394167	113	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1336631 rs778992798	116	K>E		No	ClinGen ExAC gnomAD
TCGA novel	117	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344277531 rs1348689691	118	S>N		No	ClinGen gnomAD
CA1336632 rs748181053	118	S>R		No	ClinGen ExAC gnomAD
TCGA novel	120	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35618943 rs1023746623	121	H>Q		No	ClinGen TOPMed
CA1336660 rs746253632	126	D>Y		No	ClinGen ExAC gnomAD
CA1336662 rs200693489	127	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1336663 rs749853144	128	A>S		No	ClinGen ExAC gnomAD
CA1336666 rs571328579	129	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1336665 rs768278413	129	G>R		No	ClinGen ExAC TOPMed gnomAD
CA344278231 rs1394528282	134	P>S		No	ClinGen gnomAD
CA344278250 CA344278248 CA35621539 rs911958980	135	M>I		No	ClinGen TOPMed gnomAD
rs771627204 CA1336668	144	Y>C		No	ClinGen ExAC gnomAD
rs773018576 CA1336669	146	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760409765 CA1336670	146	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760409765 CA1336671	146	R>L		No	ClinGen ExAC gnomAD
rs533689837 CA1336672	147	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs764143374 CA1336674	150	I>M		No	ClinGen ExAC TOPMed gnomAD
CA344278414 rs1201893922	150	I>T		No	ClinGen gnomAD
rs759535510 CA1336673	150	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	151	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	153	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA35621566 rs966185999	154	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs201567385 CA1336676	165	C>W		No	ClinGen ExAC TOPMed gnomAD
CA344278644 rs1192903593	172	R>M		No	ClinGen gnomAD
rs781292572 CA1336678	172	R>S		No	ClinGen ExAC gnomAD
rs150091850 CA1336679	175	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs756406896 CA1336680	175	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344278666 rs879072232	176	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs879072232 CA35621587	176	R>M		No	ClinGen gnomAD
rs1300123442 CA344278665	176	R>W		No	ClinGen gnomAD
CA35622039 rs760779263	177	H>R		No	ClinGen Ensembl
CA344278701 rs367857593	179	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1336707 rs367857593	179	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766483812 CA35622045	181	D>G		No	ClinGen Ensembl
CA344278709 rs1287158880	181	D>Y		No	ClinGen TOPMed
TCGA novel	182	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344278726 rs1418515253	183	S>T		No	ClinGen gnomAD
rs776372506 CA1336712	186	L>F		No	ClinGen ExAC gnomAD
CA1336713 rs769626435	187	R>C		No	ClinGen ExAC TOPMed gnomAD
CA344278780 rs1558041463	189	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs775375578 CA1336714	189	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs527303210 CA1336718	193	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344278865 rs1234480241	195	K>N		No	ClinGen gnomAD
rs760744206 CA1336719	195	K>R		No	ClinGen ExAC gnomAD
CA35622085 rs935380024	196	L>M		No	ClinGen TOPMed gnomAD
CA1336720 rs546957992	197	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1428414920 CA344278878	197	R>H		No	ClinGen TOPMed
CA1336721 rs754203775	198	C>Y		No	ClinGen ExAC
CA344278904 rs1238983225	199	L>F		No	ClinGen gnomAD
CA35622095 rs893773840	200	R>Q		No	ClinGen TOPMed
CA1336722 rs755367985	200	R>W		No	ClinGen ExAC gnomAD
CA344278968 rs1184286170	205	R>*		No	ClinGen TOPMed
rs765737467 CA1336723	209	H>R		No	ClinGen ExAC gnomAD
rs1453715273 CA344279097	216	A>V		No	ClinGen gnomAD
CA344279102 rs1263470049	217	R>*		No	ClinGen TOPMed
rs1417096022 CA344279105	217	R>P		No	ClinGen gnomAD
rs1417096022 CA344279104	217	R>Q		No	ClinGen gnomAD
CA344279124 rs759000597	219	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1336725 rs759000597	219	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344279130 rs1200323111	220	K>Q		No	ClinGen gnomAD
CA1336726 rs777087124	220	K>R		No	ClinGen ExAC gnomAD
CA1336727 rs746561575	222	P>T		No	ClinGen ExAC gnomAD
rs1306879834 CA344279192	225	P>L		No	ClinGen TOPMed
rs745560644 CA1336730	227	S>G		No	ClinGen ExAC TOPMed gnomAD
rs769577143 CA1336731	227	S>R		No	ClinGen ExAC gnomAD
rs1293148240 CA344279240	229	P>L		No	ClinGen gnomAD
rs775416962 CA1336732	230	S>G		No	ClinGen ExAC gnomAD
rs749124727 CA1336733	231	T>I		No	ClinGen ExAC gnomAD
TCGA novel	234	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199660046 CA1336772	239	L>V		No	ClinGen 1000Genomes
rs1379397019 CA344280069	248	N>S		No	ClinGen gnomAD
CA1336775 rs748083730	250	Q>E		No	ClinGen ExAC gnomAD
CA35623142 rs1006267263	253	M>I		No	ClinGen TOPMed gnomAD
rs772149443 CA1336776	253	M>V		No	ClinGen ExAC gnomAD
TCGA novel	256	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222073584 CA344280286	263	Q>E		No	ClinGen gnomAD
CA344280488 rs760459810	264	S>C		No	ClinGen TOPMed
rs760459810 CA35624235	264	S>F		No	ClinGen TOPMed
rs943698474 CA35624231	264	S>T		No	ClinGen TOPMed
rs558028402 CA1336799	265	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs558028402 CA344280491	265	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA344280584 rs1436619305	269	S>T		No	ClinGen gnomAD
rs768769833 CA1336802	271	C>R		No	ClinGen ExAC TOPMed gnomAD
CA1336803 rs578118005	273	G>R		No	ClinGen 1000Genomes ExAC
CA35624266 rs551020078	276	Q>H		No	ClinGen Ensembl
CA1336804 rs748538281	276	Q>P		No	ClinGen ExAC gnomAD
CA35624269 rs1024842052	277	P>L		No	ClinGen TOPMed gnomAD
rs773675579 CA1336806	279	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1336807 rs761149210	280	Q>H		No	ClinGen ExAC gnomAD
rs1235786503 CA344280821	280	Q>P		No	ClinGen TOPMed gnomAD
rs1235786503 CA344280813	280	Q>R		No	ClinGen TOPMed gnomAD
CA344280845 rs3737887	281	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	282	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344280850 rs1209428941	282	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1371164850 CA344280926	285	H>P		No	ClinGen TOPMed
rs1422878248 CA344280970	287	N>S		No	ClinGen TOPMed
CA35624283 rs894999184	291	D>G		No	ClinGen TOPMed
rs1571624124 CA916383619	292	C>*		No	ClinGen Ensembl
CA1336811 rs765010624	293	C>Y		No	ClinGen ExAC gnomAD
CA344281202 rs1405976720	297	V>F		No	ClinGen TOPMed
rs1184869277 CA344281285	302	F>L		No	ClinGen TOPMed
CA344281324 rs150847027	303	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1012066096 CA35624312	303	I>N		No	ClinGen TOPMed
CA1336817 COSM1668381 rs780118642	306	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1382532824 CA344281380	307	I>T		No	ClinGen gnomAD
CA1336818 rs749363445	309	M>V		No	ClinGen ExAC gnomAD
CA344281458 rs1442738680	311	M>K		No	ClinGen gnomAD
rs1571624351 CA344281551	314	T>S		No	ClinGen Ensembl
CA1336844 rs750426595	317	T>A		No	ClinGen ExAC gnomAD
CA344282409 rs1258434984	317	T>I		No	ClinGen TOPMed gnomAD
rs1258682863 CA344282411	318	I>V		No	ClinGen TOPMed
CA35625314 rs915646252	319	N>H		No	ClinGen Ensembl
TCGA novel	319	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs531228546 CA1336845	319	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1336847 rs752899133	321	S>I		No	ClinGen ExAC gnomAD
CA1336849 rs778043728	322	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344282446 rs1300690599	323	D>V		No	ClinGen TOPMed
CA344282452 rs1462784015	324	M>T		No	ClinGen gnomAD
rs747363805 CA1336851	325	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1336852 rs371796779	325	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747363805 CA1336850	325	R>W		No	ClinGen ExAC TOPMed gnomAD
CA35625342 rs961748645	326	H>P		No	ClinGen TOPMed gnomAD
rs1390328198 CA344282471	327	H>R		No	ClinGen gnomAD
TCGA novel	328	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357945340 CA344282480	329	V>M		No	ClinGen gnomAD
CA1336856 rs762629127	330	R>K		No	ClinGen ExAC TOPMed gnomAD
rs951979616 CA35625355	336	S>T		No	ClinGen TOPMed gnomAD
CA344282536 rs1480314172	337	P>R		No	ClinGen gnomAD
rs571018950 CA1336859	339	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1193900815 CA344282560	341	G>V		No	ClinGen TOPMed
rs750320699 CA1336861	342	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1336862 rs760661763	342	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750320699 CA35625356	342	R>W		No	ClinGen ExAC TOPMed gnomAD
CA344282576 rs1486193401	344	L>P		No	ClinGen TOPMed
CA344282574 rs1416982306	344	L>V		No	ClinGen gnomAD
CA1336864 rs144395596	345	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs758578908 CA1336865	346	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1461005677 CA344282601	348	Q>R		No	ClinGen gnomAD
CA1336866 rs777879755	349	G>D		No	ClinGen ExAC gnomAD
CA344282659 rs1377772210	354	L>P		No	ClinGen gnomAD
rs1415977989 CA344282713	359	S>G		No	ClinGen TOPMed gnomAD
CA344282719 rs1312641707	359	S>T		No	ClinGen gnomAD
CA1336868 rs751854941	360	V>F		No	ClinGen ExAC gnomAD
rs751854941 CA1336867	360	V>I		No	ClinGen ExAC gnomAD
rs1296519586 CA344282734	361	R>Q		No	ClinGen TOPMed gnomAD
rs1216698565 CA344282732	361	R>W		No	ClinGen gnomAD
rs1307158457	363	F>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1558048355 CA344282808	366	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1486609549 CA344282837	369	Q>*		No	ClinGen gnomAD
CA344282865 rs1256732898	371	P>A		No	ClinGen gnomAD
TCGA novel	371	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756694026 CA1336872	373	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	373	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427603441 CA344282898	374	L>M		No	ClinGen gnomAD
rs779673859 CA1336873	376	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1336875 rs768333440	377	A>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8IXX5

No regional properties for Q8IXX5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8IXX5

Functions

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

2 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.
SCF ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5EA86	TMEM183	Transmembrane protein 183	Bos taurus (Bovine)	PR
Q1AE95	TMEM183BP	Putative transmembrane protein 183BP	Homo sapiens (Human)	PR
Q9JJB9	Tmem183	Transmembrane protein 183	Mus musculus (Mouse)	PR
Q68FS7	Tmem183	Transmembrane protein 183	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MARGPGPLGR	PRPDTVAMPK	RGKRLKFRAH	DACSGRVTVA	DYANSDPAVV	RSGRVKKAVA
70	80	90	100	110	120
NAVQQEVKSL	CGLEASQVPA	EEALSGAGEP	CDIIDSSDEM	DAQEESIHER	TVSRKKKSKR
130	140	150	160	170	180
HKEELDGAGG	EEYPMDIWLL	LASYIRPEDI	VNFSLICKNA	WTVTCTAAFW	TRLYRRHYTL
190	200	210	220	230	240
DASLPLRLRP	ESMEKLRCLR	ACVIRSLYHM	YEPFAARISK	NPAIPESTPS	TLKNSKCLLF
250	260	270	280	290	300
WCRKIVGNRQ	EPMWEFNFKF	KKQSPRLKSK	CTGGLQPPVQ	YEDVHTNPDQ	DCCLLQVTTL
310	320	330	340	350	360
NFIFIPIVMG	MIFTLFTINV	STDMRHHRVR	LVFQDSPVHG	GRKLRSEQGV	QVILDPVHSV
370
RLFDWWHPQY	PFSLRA