AiPD: Autoinhibited Protein Database

Q5BKX8

Gene name	CAVIN4
Protein name	Caveolae-associated protein 4
Names	Muscle-related coiled-coil protein, Muscle-restricted coiled-coil protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:347273
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-364 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-364 (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 Q5BKX8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5BKX8-F1	Predicted				AlphaFoldDB

347 variants for Q5BKX8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs773449856 CA5159970	4	N>H		No	ClinGen ExAC gnomAD
RCV000658290 rs777061909 CA196934889	4	N>S		No	ClinGen ClinVar TOPMed dbSNP
CA196934897 rs992259812	5	G>A		No	ClinGen TOPMed gnomAD
RCV000427703 rs1057524661 CA16605534	10	A>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA5159972 rs766849829	11	D>G		No	ClinGen ExAC gnomAD
TCGA novel	11	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759161053 CA5159974	16	N>K		No	ClinGen ExAC gnomAD
rs373690575 CA5159975	17	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469578901 CA374249509	17	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs375508129 CA5159976 COSM175371	19	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5159978 rs149928914	20	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5159979 rs753591479	21	V>D		No	ClinGen ExAC gnomAD
CA196934956 rs146531701	21	V>I		No	ClinGen ESP TOPMed
CA374249551 rs757061908	24	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	24	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757061908 CA5159980	24	D>V		No	ClinGen ExAC TOPMed gnomAD
CA374249548 rs1234079781	24	D>Y		No	ClinGen gnomAD
CA374249554 rs1190219184	25	E>K		No	ClinGen gnomAD
rs867235009 CA196934960	27	Q>*		No	ClinGen Ensembl
rs111495535 CA196934970	27	Q>R		No	ClinGen Ensembl
rs778889709 CA5159981	28	D>G		No	ClinGen ExAC TOPMed gnomAD
rs369545613 CA196934990	29	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5159983 COSM282988 rs369545613	29	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA374249586 rs1564032296	29	A>V		No	ClinGen Ensembl
rs781278902 CA5159984	30	A>T		No	ClinGen ExAC gnomAD
rs925111294 CA196934995	30	A>V		No	ClinGen TOPMed
CA5159986 rs769919513	32	T>A		No	ClinGen ExAC TOPMed gnomAD
rs773468407 CA5159987	33	I>V		No	ClinGen ExAC TOPMed gnomAD
CA374249609 rs1291935233	34	V>L		No	ClinGen gnomAD
CA374249620 rs1360905485	35	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA196935002 rs879571284	36	V>L		No	ClinGen Ensembl
rs749678319 CA5159988	39	K>R		No	ClinGen ExAC gnomAD
TCGA novel	41	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA196935020 rs372833752	42	S>F		No	ClinGen ESP TOPMed gnomAD
rs1335657520 CA374249696	43	I>V		No	ClinGen TOPMed
CA5159991 rs760145551	44	V>A		No	ClinGen ExAC gnomAD
rs775051470 CA5159990	44	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5159994 rs760175950	48	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA374249779 rs1263269169	49	A>E		No	ClinGen gnomAD
CA5159995 rs560877170	50	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374249813 rs1247178831	53	R>I	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761560442 CA5159997	54	I>M		No	ClinGen ExAC gnomAD
CA16605288 rs753524431 RCV000437962	54	I>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs753524431 CA5159996 RCV000520708	54	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA374249818 rs1164330091	54	I>V		No	ClinGen TOPMed
RCV001195480 rs947295697 CA196935085	56	E>D		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs750176327 CA5160000	58	H>R		No	ClinGen ExAC TOPMed gnomAD
rs765039373 CA5159999	58	H>Y		No	ClinGen ExAC gnomAD
CA374249862 rs1320378518	60	E>D		No	ClinGen gnomAD
rs576225231 CA5160002	61	M>V		No	ClinGen ExAC TOPMed gnomAD
CA196935120 rs937130678	62	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA374249894 rs1587865502	65	I>V		No	ClinGen Ensembl
rs752773619 CA5160003	66	K>R		No	ClinGen ExAC gnomAD
rs200540810 CA5160006	68	V>A		No	ClinGen ExAC gnomAD
rs374741826 CA5160005	68	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1213918348 CA374249925	70	I>L		No	ClinGen gnomAD
CA374249929 rs1267273169	70	I>T		No	ClinGen gnomAD
rs1217900347 CA374249943	72	L>P		No	ClinGen gnomAD
CA196935158 rs796369761	73	L>S		No	ClinGen TOPMed gnomAD
rs1272177198 CA374249956	74	K>R		No	ClinGen gnomAD
rs776052544 CA5160011	76	S>*		No	ClinGen ExAC
rs73657328 RCV000218994 CA5160012	78	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775953195 CA5160014	79	H>L		No	ClinGen ExAC gnomAD
rs1283062118 CA374249983	79	H>N		No	ClinGen TOPMed
TCGA novel	79	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403293068 CA374249994	80	S>N		No	ClinGen TOPMed
CA196935188 rs1036002862	81	N>D		No	ClinGen TOPMed gnomAD
RCV001697245 CA5160015 RCV000218904 rs149165620	81	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374250000 rs1410261287	81	N>S		No	ClinGen gnomAD
rs372232729 CA196935224	82	T>A		No	ClinGen ESP
CA5160017 rs750231289	84	H>R		No	ClinGen ExAC gnomAD
rs1381704738 CA374250017	84	H>Y		No	ClinGen TOPMed
CA374250030 rs1382889499	86	I>V		No	ClinGen TOPMed
rs762719608 CA5160018	90	F>L		No	ClinGen ExAC gnomAD
TCGA novel	91	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs552717949 CA5160019	92	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5160020 rs751480315	93	T>A		No	ClinGen ExAC gnomAD
rs756194138 CA5160021	94	R>*		No	ClinGen ExAC TOPMed gnomAD
CA374250086 rs756194138	94	R>G		No	ClinGen ExAC TOPMed gnomAD
rs191289133 CA5160022	94	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	95	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA196935256 rs376668265	96	V>L		No	ClinGen Ensembl
CA374250104 rs1326842814	97	S>C		No	ClinGen TOPMed gnomAD
CA5160023 rs200276650	97	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374250112 rs1284654256	98	A>D		No	ClinGen gnomAD
rs779220367 CA374250121	99	H>Q		No	ClinGen ExAC gnomAD
CA374250118 rs1554690779 RCV000522068	99	H>R		No	ClinGen ClinVar Ensembl dbSNP
CA5160024 rs757561976	99	H>Y		No	ClinGen ExAC
CA5160026 rs780959945	100	I>S		No	ClinGen ExAC TOPMed gnomAD
CA196935274 rs1013310575	100	I>V		No	ClinGen Ensembl
rs1181833104 CA374250143	103	V>M		No	ClinGen Ensembl
CA5160028 rs548431540	105	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5160027 rs548431540	105	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374250160 rs1368151620	105	A>V		No	ClinGen gnomAD
CA5160030 rs747762265	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5160029 rs369570887	106	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374250165 rs1471263477	107	V>M		No	ClinGen gnomAD
rs776209874 CA5160031	109	K>R		No	ClinGen ExAC gnomAD
CA5160032 rs761254712	111	Q>E		No	ClinGen ExAC gnomAD
CA374250198 rs1486495342	111	Q>H		No	ClinGen TOPMed
CA374250203 rs1176002440	112	I>N		No	ClinGen gnomAD
TCGA novel	113	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772843878 CA5160034	113	H>Y		No	ClinGen ExAC gnomAD
CA374250217 rs1222043026	114	V>D		No	ClinGen TOPMed
rs762774797 CA5160035	115	K>I		No	ClinGen ExAC gnomAD
rs762774797 RCV000432347 CA16605290	115	K>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1348281636 CA374250232	116	K>N		No	ClinGen gnomAD
rs766138038 CA5160037	117	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	117	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374250267 rs1217440562	121	Q>H		No	ClinGen gnomAD
CA5160038 rs773971091	122	E>G		No	ClinGen ExAC gnomAD
CA374250289 rs1284088415	124	I>M		No	ClinGen TOPMed
rs759552777 CA5160039	124	I>V		No	ClinGen ExAC gnomAD
CA196935404 rs866752483	128	N>D		No	ClinGen gnomAD
CA374250315 rs866752483	128	N>H		No	ClinGen gnomAD
rs143268013 CA5160042	128	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5160041 rs767295630	128	N>S		No	ClinGen ExAC gnomAD
CA590045303 rs1343956092	130	F>R		No	ClinGen gnomAD
CA5160043 rs146923040	131	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5160044 RCV000216675 rs137921742	131	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5160045 rs137921742	131	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146923040 CA374250336	131	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182720808 CA5160049	132	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000520391 CA5160048 CA374250339 rs147081785	132	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5160047 rs147081785	132	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5160050 rs781535904	134	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1411310483 CA374250355	135	F>L		No	ClinGen gnomAD
rs1047771259 CA196935427	136	Q>*		No	ClinGen TOPMed
rs1193365798 CA374251295	138	K>N		No	ClinGen gnomAD
rs745743737 CA5160077	140	R>G		No	ClinGen ExAC TOPMed gnomAD
rs775620198 CA5160078	140	R>P		No	ClinGen ExAC TOPMed gnomAD
CA196940745 rs775620198	140	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs745743737 CA5160076	140	R>W		No	ClinGen ExAC TOPMed gnomAD
rs768645960 RCV000522646 CA5160080	142	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5160079 rs760712503	142	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1387100456 CA374251322	143	T>I		No	ClinGen gnomAD
CA374251350 rs1250171196	146	S>C		No	ClinGen TOPMed
CA374251365 rs1353575711	148	V>I		No	ClinGen gnomAD
rs1294087951 CA374251377	149	K>E		No	ClinGen gnomAD
rs922768766 CA196940775	150	D>G		No	ClinGen TOPMed
CA374251394 rs1328729739	150	D>N		No	ClinGen gnomAD
CA5160084 rs577399733	151	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5160085 rs377399478	151	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA196940796 rs890248174	152	N>H		No	ClinGen TOPMed
rs370997194 CA5160087	153	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370997194 CA196940821	153	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA374251432 rs1200326073	153	L>V		No	ClinGen gnomAD
RCV000493141 CA196940826 rs925977838	155	E>G		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1587868367 CA374251450	155	E>K		No	ClinGen Ensembl
CA374251459 rs925977838	155	E>V		No	ClinGen TOPMed gnomAD
CA5160089 rs767889299	157	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs767889299 CA5160088	157	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA196940860 rs879044419	159	E>D		No	ClinGen Ensembl
CA5160092 rs200636428	160	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs899228648 CA196940861	160	D>N		No	ClinGen Ensembl
CA5160093 rs377584522	161	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA374251547 rs1385539207	161	D>N		No	ClinGen TOPMed
CA374251564 rs1301987042	162	D>H		No	ClinGen gnomAD
rs1301987042 CA374251562	162	D>N		No	ClinGen gnomAD
RCV000222669 CA5160094 rs111884608	163	D>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1198017199 CA374251619	165	F>L		No	ClinGen TOPMed
CA374251625 rs1365306662	166	D>Y		No	ClinGen gnomAD
CA374251650 rs1171861329	168	P>S		No	ClinGen gnomAD
rs528754097 CA5160096	169	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5160098 rs746740752	170	D>G		No	ClinGen ExAC TOPMed gnomAD
rs779998514 CA5160097	170	D>Y		No	ClinGen ExAC gnomAD
CA374251693 rs1389880526	172	S>P		No	ClinGen gnomAD
COSM1458941 rs1304447896 CA374251703	173	S>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs770889734 CA5160102	174	D>E		No	ClinGen ExAC gnomAD
rs763129107 CA5160101	174	D>G		No	ClinGen ExAC gnomAD
rs776704640 CA5160100	174	D>N		No	ClinGen ExAC TOPMed gnomAD
CA374251711 rs1212449187	175	E>A		No	ClinGen gnomAD
rs555052381 CA5160103	175	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	176	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239732965 CA374251728	177	Y>C		No	ClinGen TOPMed
rs1045628415 CA196940948	178	Y>C		No	ClinGen TOPMed
CA5160104 rs759706670	182	S>N		No	ClinGen ExAC gnomAD
CA374251799 rs1175054842	183	R>G		No	ClinGen gnomAD
CA374251822 rs1252406209	184	S>C		No	ClinGen gnomAD
TCGA novel	184	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374251838 rs1587868446	186	R>G		No	ClinGen Ensembl
rs1391828116 CA374251852	187	L>F		No	ClinGen TOPMed
CA374251895 rs1426367239	189	K>R		No	ClinGen TOPMed
rs761017654 CA5160107	192	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1369966733 CA374251949	195	I>T		No	ClinGen TOPMed gnomAD
rs764656387 CA5160109	196	D>A		No	ClinGen ExAC gnomAD
rs764656387 CA5160110	196	D>G		No	ClinGen ExAC gnomAD
CA374251965 rs1386615297	197	N>K		No	ClinGen gnomAD
CA374251975 rs1301660496	199	K>E		No	ClinGen gnomAD
rs1373914124 CA374251979	199	K>R		No	ClinGen gnomAD
rs756842424 RCV000424953 CA5160112	200	K>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA5160113 rs374442582	203	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA196941002 rs367705879	204	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA374252032 rs1292985538	207	M>V		No	ClinGen TOPMed
rs1252650137 CA374252041	208	Q>E		No	ClinGen gnomAD
RCV000606293 rs200590850 CA5160118	211	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs779838936 CA5160117	211	R>W		No	ClinGen ExAC gnomAD
CA374252067 rs1281342599	212	Q>K		No	ClinGen TOPMed
rs1389665433 CA374252106	217	K>T		No	ClinGen gnomAD
CA374252113 rs1426763076	218	V>L		No	ClinGen TOPMed gnomAD
rs748054455 CA5160121	220	R>K		No	ClinGen ExAC gnomAD
CA374252137 rs1446851356	221	I>M		No	ClinGen Ensembl
rs1241780513 CA374252134	221	I>N		No	ClinGen Ensembl
rs1355377132 CA374252142	222	R>T		No	ClinGen TOPMed gnomAD
rs769728821 CA5160122	223	T>A		No	ClinGen ExAC gnomAD
rs372914948 CA196941070	224	R>I		No	ClinGen ESP TOPMed
CA374252158 rs1442285312	225	I>K		No	ClinGen TOPMed gnomAD
rs772342107 CA5160125	225	I>V		No	ClinGen ExAC TOPMed gnomAD
CA374252173 rs1360685187	227	T>I		No	ClinGen gnomAD
rs764421045 CA5160128	228	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5160129 rs144516649 COSM1258325	228	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA196941119 rs144516649	228	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5160131 rs141750274	229	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs749957630 CA5160133	230	R>G		No	ClinGen ExAC TOPMed gnomAD
rs199804309 CA5160135	230	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs199804309 CA5160134	230	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000613602 rs114540433 RCV000841423 CA5160137	231	R>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	232	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5160138 rs754624967	233	R>S		No	ClinGen ExAC gnomAD
rs1344341067 CA374252208	234	L>I		No	ClinGen TOPMed
TCGA novel	235	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs981341413 CA196941173	237	S>L		No	ClinGen TOPMed gnomAD
rs747907869 CA5160141	238	G>E		No	ClinGen ExAC gnomAD
rs1462245543 CA374252243	239	E>G		No	ClinGen TOPMed gnomAD
rs752268676 CA5160132	241	L>G		No	ClinGen ExAC gnomAD
CA5160146 rs756021968	243	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5160147 rs756021968	243	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs772113280 CA5160151	246	E>K		No	ClinGen ExAC gnomAD
rs1036130331 CA196941304	246	E>V		No	ClinGen Ensembl
CA374252289 rs1336467530	247	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1217934414 CA374252291	247	R>K		No	ClinGen gnomAD
rs139714525 CA374252325	252	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5160154 rs139714525	252	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA374252323 rs1301211295	252	G>R		No	ClinGen TOPMed gnomAD
CA5160156 rs776866140	254	R>W		No	ClinGen ExAC gnomAD
CA374252346 rs1485360718	255	F>C		No	ClinGen gnomAD
rs1587868626 CA374252343	255	F>V		No	ClinGen Ensembl
CA374252360 rs1194100440	257	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs769458575 CA5160152	258	S>A		No	ClinGen ExAC gnomAD
rs536624756 CA5160157	258	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs765728679 CA5160158	259	I>L		No	ClinGen ExAC TOPMed gnomAD
rs765728679 CA374252370	259	I>V		No	ClinGen ExAC TOPMed gnomAD
rs149770384 CA5160159	260	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324156994 CA374252389	262	A>T		No	ClinGen TOPMed
rs766006712 CA5160161	264	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766006712 CA374252402	264	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766006712 CA374252401	264	P>T		No	ClinGen ExAC gnomAD
rs1257391281 CA374252410	265	S>L		No	ClinGen TOPMed
rs751070367 CA374252406	265	S>P		No	ClinGen ExAC gnomAD
rs751070367 CA5160162	265	S>T		No	ClinGen ExAC gnomAD
CA5160163 rs754679919	266	K>E		No	ClinGen ExAC gnomAD
CA374252414 rs1212768968	266	K>R		No	ClinGen TOPMed
CA374252432 rs1587868658	267	E>D		No	ClinGen Ensembl
rs767137800 CA374252440	268	A>D		No	ClinGen ExAC TOPMed gnomAD
rs767137800 CA5160164	268	A>G		No	ClinGen ExAC TOPMed gnomAD
CA374252480 rs1457437534	271	M>K		No	ClinGen TOPMed gnomAD
rs1433616927 CA374252476	271	M>V		No	ClinGen gnomAD
rs752495543 CA5160165 COSM3835310	272	R>C	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752495543 CA374252491	272	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1314321 rs755935790 CA5160166	272	R>H	ovary Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777615745 CA5160167	275	R>G		No	ClinGen ExAC gnomAD
CA196941434 rs1014259103	277	G>D		No	ClinGen Ensembl
CA5160169 rs757138375	278	K>E		No	ClinGen ExAC gnomAD
rs1284806528 CA374252567	279	D>N		No	ClinGen gnomAD
CA5160171 rs199888023	280	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs199888023 CA374252580	280	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5160172 rs768816843	283	A>G		No	ClinGen ExAC gnomAD
CA5160173 rs781471187	285	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5160174 rs748500255	286	E>K		No	ClinGen ExAC TOPMed gnomAD
CA374252639 rs748500255	286	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA374252662 rs1231559548	287	E>A		No	ClinGen gnomAD
rs1471336029 CA374252679	288	C>W		No	ClinGen gnomAD
rs876657509 CA374252691	290	R>G		No	ClinGen gnomAD
TCGA novel	290	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453115460 CA374252700	290	R>S		No	ClinGen gnomAD
rs1171261948 CA374252717	291	E>D		No	ClinGen gnomAD
rs1587868715 CA374252731	292	M>I		No	ClinGen Ensembl
rs773396389 CA5160177	292	M>K		No	ClinGen ExAC gnomAD
rs763581383 CA5160178	293	G>R		No	ClinGen ExAC gnomAD
CA374252747 rs1383670264	294	V>M		No	ClinGen TOPMed
CA374252770 rs1327715698	296	I>F		No	ClinGen gnomAD
rs771495511 CA5160179	297	I>T		No	ClinGen ExAC gnomAD
CA5160180 rs774008744	298	A>T		No	ClinGen ExAC TOPMed gnomAD
rs375965738 CA5160181	299	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5160182 rs767144523	300	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs370376859 CA5160185	301	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5160184 rs370376859	301	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA374252846 rs1271211644	302	S>F		No	ClinGen gnomAD
CA5160186 rs753591105	302	S>T		No	ClinGen ExAC TOPMed gnomAD
rs757191826 CA374252860	304	G>C		No	ClinGen ExAC TOPMed gnomAD
rs757191826 CA5160187	304	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1246298027 CA374252873	305	P>L		No	ClinGen TOPMed
rs148950537 CA5160188	305	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751703046 RCV001552344 CA5160189 RCV000222808	307	S>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA374252917 rs1277272305	308	E>D		No	ClinGen TOPMed
CA374252932 rs1453128109	310	Y>H		No	ClinGen gnomAD
rs1329938246 CA374252962	312	D>E		No	ClinGen TOPMed
rs769864035 CA5160193	312	D>V		No	ClinGen ExAC gnomAD
rs748425240 CA5160192	312	D>Y		No	ClinGen ExAC gnomAD
rs749603456 CA5160195	314	L>F		No	ClinGen ExAC gnomAD
CA374252989 rs771622110	315	S>C		No	ClinGen ExAC gnomAD
CA5160197 rs771622110	315	S>G		No	ClinGen ExAC gnomAD
rs774996606 CA5160198	315	S>T		No	ClinGen ExAC gnomAD
rs1165657892 CA374253001	316	E>K		No	ClinGen TOPMed
rs147712803 CA5160200	319	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA374253055 rs1226842743	320	E>G		No	ClinGen TOPMed gnomAD
rs957720883 CA196941624	320	E>K		No	ClinGen TOPMed gnomAD
CA374253062 rs1226842743	320	E>V		No	ClinGen TOPMed gnomAD
RCV001719126 CA5160205 rs147742000	324	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374253110 rs147742000	324	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5160204 rs147742000	324	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374253114 rs369823650	325	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5160207 rs369823650	325	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254233381 CA374253133	326	Y>C		No	ClinGen gnomAD
rs148374985 CA5160208	327	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141175381 CA374253162	329	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141175381 CA5160210	329	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5160211 rs752652787	329	H>Q		No	ClinGen ExAC gnomAD
rs1476193798 CA374253165	329	H>R		No	ClinGen gnomAD
rs141175381 CA5160209	329	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5160212 rs756371499	330	E>D		No	ClinGen ExAC
CA374253188 rs1376132917	331	G>R		No	ClinGen TOPMed
rs1416925648 CA374253202	332	R>T		No	ClinGen gnomAD
rs1166793460 CA374253225	334	I>V		No	ClinGen gnomAD
rs749739234 CA5160214	335	P>A		No	ClinGen ExAC gnomAD
CA374253243 rs1381571256	335	P>L		No	ClinGen gnomAD
rs1587868838 CA374253249	336	T>P		No	ClinGen Ensembl
TCGA novel	337	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374253267 rs1332922647	338	E>K		No	ClinGen TOPMed gnomAD
CA5160216 rs779613737	339	P>A		No	ClinGen ExAC gnomAD
CA5160217 rs746409931	341	K>I		No	ClinGen ExAC gnomAD
CA374253365 rs1425527987	346	S>C		No	ClinGen TOPMed
CA5160219 rs775073275	348	V>M		No	ClinGen ExAC gnomAD
CA374253398 rs1156981196	349	K>T		No	ClinGen TOPMed
CA5160220 rs746449850	350	V>E		No	ClinGen ExAC gnomAD
CA5160221 rs768357648	351	E>K		No	ClinGen ExAC
rs1193729079 CA374253442	353	D>G		No	ClinGen gnomAD
CA374253456 rs1256422875	354	E>G		No	ClinGen gnomAD
rs930468369 CA196941776	357	L>F		No	ClinGen gnomAD
CA374253491 rs1189878508	357	L>S		No	ClinGen TOPMed gnomAD
rs761642781 CA5160223	358	L>I		No	ClinGen ExAC gnomAD
CA5160225 rs772947291	360	L>*		No	ClinGen ExAC gnomAD
CA196941788 rs765035440	360	L>I		No	ClinGen ExAC TOPMed gnomAD
rs765035440 CA5160224	360	L>V		No	ClinGen ExAC TOPMed gnomAD
CA374253532 rs1270774360	361	K>E		No	ClinGen TOPMed
rs752878354 CA196941808	364	S>*		No	ClinGen ExAC TOPMed gnomAD
rs752878354 CA5160228	364	S>L		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q5BKX8

No regional properties for Q5BKX8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5BKX8

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, myofibril, sarcomere Cytoplasm Cytoplasm, cytosol Cell membrane, sarcolemma Membrane, caveola Cell membrane	In cardiomyocytes, accumulates in the Z-line of the sarcomere In vascular smooth muscle cells, detected diffusely throughout the cytoplasm Localizes in the caveolae in a caveolin-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
sarcolemma	The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.
sarcoplasm	The cytoplasm of a muscle cell; includes the sarcoplasmic reticulum.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
muscle organ development	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of Rho protein signal transduction	Any process that modulates the frequency, rate or extent of Rho protein signal transduction.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5PJI6	CAVIN4	Caveolae-associated protein 4	Bos taurus (Bovine)	PR
Q6NZI2	CAVIN1	Caveolae-associated protein 1	Homo sapiens (Human)	PR
A2AMM0	Cavin4	Caveolae-associated protein 4	Mus musculus (Mouse)	PR
O54724	Cavin1	Caveolae-associated protein 1	Mus musculus (Mouse)	PR
B1PRL5	Cavin4	Caveolae-associated protein 4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEHNGSASNA	DKIHQNRLSS	VTEDEDQDAA	LTIVTVLDKV	ASIVDSVQAS	QKRIEERHRE
70	80	90	100	110	120
MENAIKSVQI	DLLKLSQSHS	NTGHIINKLF	EKTRKVSAHI	KDVKARVEKQ	QIHVKKVEVK
130	140	150	160	170	180
QEEIMKKNKF	RVVIFQEKFR	CPTSLSVVKD	RNLTENQEED	DDDIFDPPVD	LSSDEEYYVE
190	200	210	220	230	240
ESRSARLRKS	GKEHIDNIKK	AFSKENMQKT	RQNLDKKVNR	IRTRIVTPER	RERLRQSGER
250	260	270	280	290	300
LRQSGERLRQ	SGERFKKSIS	NAAPSKEAFK	MRSLRKGKDR	TVAEGEECAR	EMGVDIIARS
310	320	330	340	350	360
ESLGPISELY	SDELSEPEHE	AARPVYPPHE	GREIPTPEPL	KVTFKSQVKV	EDDESLLLDL

KHSS