AiPD: Autoinhibited Protein Database

Q6NZI2

Gene name	CAVIN1
Protein name	Caveolae-associated protein 1
Names	Cavin-1, Polymerase I and transcript release factor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284119
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-70 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-70 (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 Q6NZI2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6NZI2-F1	Predicted				AlphaFoldDB

396 variants for Q6NZI2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs185645510 RCV001174432 CA8575953	19	A>T	Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000664149 rs61729285 RCV000957608 CA8575950 RCV003144466	22	P>L	Congenital generalized lipodystrophy type 4 Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1567782493 RCV000023262	45	K>missing	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
rs1567782465 RCV000006982	54	V>missing	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
rs139531639 RCV000173424 RCV000287886 CA238877	56	S>R	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2085564424 RCV001122901	66	D>G	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
rs146547678 RCV000487759 CA238881 RCV001122899	119	V>D	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1489315815 RCV000006983	122	K>missing	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000404894 CA8575871 RCV001311888 rs148239625 RCV001174431	154	M>I	Congenital generalized lipodystrophy type 4 Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000023263 rs1567776514	161	K>missing	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
CA8575851 RCV001122897 rs200954375	172	L>V	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000023264 rs1207466199	173	K>missing	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000006981 rs1567776490	176	E>missing	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001261601 rs199720089	184	E>*	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000445481 rs537998274 RCV003128402	185	E>missing	Monogenic diabetes [ClinVar]	Yes	ClinVar dbSNP
rs747339228 RCV001128589 CA8575814	227	R>W	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1427062799 RCV000006980	233	K>missing	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinVar dbSNP
rs772598451 CA8575794 RCV000346427	279	T>R	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8575787 rs146596349 RCV001128588	287	R>G	Congenital generalized lipodystrophy type 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000195159 RCV000376561 RCV000725971 RCV001174430 CA209797 rs146799286	308	Y>C	Congenital generalized lipodystrophy type 4 Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767832643 RCV001174404	349	D>missing	Monogenic diabetes [ClinVar]	Yes	ClinVar dbSNP
CA290756730 rs867095666	2	E>D		No	ClinGen Ensembl
rs1159158789 CA399594024	3	D>N		No	ClinGen gnomAD
CA399593959 rs1421483011	4	P>S		No	ClinGen TOPMed gnomAD
CA8575963 rs756256091	5	T>R		No	ClinGen ExAC gnomAD
rs1268944317 CA399593878	6	L>F		No	ClinGen TOPMed gnomAD
CA399593880 rs1268944317	6	L>V		No	ClinGen TOPMed gnomAD
CA8575961 rs781422093	7	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1274506072 CA399593857	7	Y>H		No	ClinGen TOPMed
rs1238359806 CA399593827	8	I>T		No	ClinGen TOPMed
rs757445859 CA8575960	8	I>V		No	ClinGen ExAC TOPMed gnomAD
CA399593823 rs1481429774	9	V>I		No	ClinGen TOPMed
TCGA novel	10	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8575958 rs560641597	10	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3795624 CA290756717 rs560641597	10	E>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs970410049 CA399593765	11	R>L		No	ClinGen TOPMed gnomAD
rs970410049 CA290756715	11	R>Q		No	ClinGen TOPMed gnomAD
CA399593768 rs1346292445	11	R>W		No	ClinGen gnomAD
rs765980576 CA8575955	14	P>L		No	ClinGen ExAC TOPMed gnomAD
VAR_035982	14	P>T	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1598582770 CA399593591	16	Y>D		No	ClinGen Ensembl
CA399593525 rs760165492	18	D>E		No	ClinGen ExAC TOPMed gnomAD
CA399593503 rs185645510	19	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767145842 CA8575952	20	E>A		No	ClinGen ExAC gnomAD
rs1302617879 CA399593425	21	A>S		No	ClinGen TOPMed
CA399593411 rs1302617879	21	A>T		No	ClinGen TOPMed
CA8575951 rs761398878	21	A>V		No	ClinGen ExAC gnomAD
rs1019284265 CA290756698	24	P>S		No	ClinGen TOPMed gnomAD
CA399593234 rs1255988724	27	A>T		No	ClinGen gnomAD
rs749794136 CA399593207	28	G>A		No	ClinGen ExAC TOPMed gnomAD
rs749794136 CA8575948	28	G>E		No	ClinGen ExAC TOPMed gnomAD
CA399593186 rs1008285930	29	A>S		No	ClinGen TOPMed gnomAD
CA290756694 rs1008285930	29	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8575946 rs770304193	31	A>T		No	ClinGen ExAC TOPMed gnomAD
CA399593115 rs1318813554	32	A>T		No	ClinGen gnomAD
CA8575945 rs745915522	32	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1242528351 CA399593067	34	E>K		No	ClinGen Ensembl
rs775947541 CA290756687	35	P>T		No	ClinGen Ensembl
CA399592961 rs1396584315	38	A>T		No	ClinGen gnomAD
rs754886488 CA8575940	39	G>S		No	ClinGen ExAC gnomAD
CA399592907 rs1194401566	40	S>A		No	ClinGen TOPMed
CA399592860 rs1278127361	41	E>G		No	ClinGen gnomAD
rs1175677389 CA399592776	44	I>F		No	ClinGen TOPMed
CA399592764 rs1360091709	44	I>M		No	ClinGen TOPMed
rs1423821820 CA399592768	44	I>T		No	ClinGen gnomAD
CA399592755 rs1172377363	45	K>R		No	ClinGen gnomAD
CA399592746 rs1598582599	46	S>A		No	ClinGen Ensembl
CA290756678 rs947227774	46	S>L		No	ClinGen Ensembl
CA399592735 rs1367434298	47	D>E		No	ClinGen gnomAD
rs1436921496 CA399592740	47	D>H		No	ClinGen TOPMed
rs1598582574 CA399592720	49	V>G		No	ClinGen Ensembl
rs1296772726 CA399592713	50	N>T		No	ClinGen TOPMed
CA399592703 rs1426032452	51	G>S		No	ClinGen gnomAD
rs1319113038 CA399592686	52	V>A		No	ClinGen Ensembl
CA238879 RCV000173425 rs766972533	53	L>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA399592667 rs1458500628	54	V>L		No	ClinGen gnomAD
rs1401160244 CA399592648	56	S>R		No	ClinGen TOPMed
CA399592629 rs1363503316	57	L>V		No	ClinGen TOPMed
CA8575935 rs774045090	58	L>V		No	ClinGen ExAC gnomAD
TCGA novel	59	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8575934 rs763744183	59	D>V		No	ClinGen ExAC gnomAD
TCGA novel	60	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375388032 CA8575933	61	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA290756669 rs1053908526	61	I>V		No	ClinGen gnomAD
CA8575932 rs376892295	63	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA399592518 rs1283635360	64	A>V		No	ClinGen TOPMed
rs770975617 CA8575928	65	V>I		No	ClinGen ExAC TOPMed gnomAD
CA399592511 rs770975617	65	V>L		No	ClinGen ExAC TOPMed gnomAD
rs574225837 CA8575927	66	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574225837 CA399592500	66	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000593503 CA399592487 rs1555588981	67	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs772436760 CA8575925	68	I>T		No	ClinGen ExAC TOPMed gnomAD
CA399592454 rs1163285376	69	Q>K		No	ClinGen gnomAD
CA290756655 rs982150697	69	Q>P		No	ClinGen TOPMed
CA399592417 rs1360357711	71	T>I		No	ClinGen TOPMed
CA8575924 rs749042133	72	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1320909170 CA399592401	73	A>T		No	ClinGen TOPMed
rs1378939281 CA399592369	75	L>M		No	ClinGen gnomAD
CA399592359 rs780022998	76	E>K		No	ClinGen ExAC gnomAD
CA8575923 rs780022998	76	E>Q		No	ClinGen ExAC gnomAD
CA290756649 rs908826930	77	E>K		No	ClinGen gnomAD
rs750373957 CA399592328	78	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1371198558 CA399592322	78	R>Q		No	ClinGen TOPMed
rs780737805 CA8575920	79	Q>*		No	ClinGen ExAC gnomAD
rs1236113493 CA399592308	79	Q>L		No	ClinGen TOPMed
CA8575918 rs78526907	80	A>G		No	ClinGen ExAC gnomAD
rs756657842 CA8575919	80	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763691234 CA8575917	82	M>I		No	ClinGen ExAC gnomAD
rs1015225505 CA290756641	82	M>L		No	ClinGen TOPMed gnomAD
rs1244823716 CA399592272	82	M>T		No	ClinGen gnomAD
rs369470397 CA8575916	83	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA290756636 rs61729284	85	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8575915 rs61729284 COSM979485	85	A>S	Variant assessed as Somatic; 4.641e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA399592238 rs61729284	85	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1323817489 CA399592220	86	V>A		No	ClinGen gnomAD
rs1330090952 CA399592228	86	V>M		No	ClinGen TOPMed gnomAD
rs1406599199 CA399592203	87	Q>H		No	ClinGen gnomAD
rs1358143864 CA399592200	88	S>R		No	ClinGen gnomAD
rs371989035 CA399592148	89	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217564726 CA399592120	91	G>A		No	ClinGen TOPMed gnomAD
rs1027101452 CA290756632	91	G>S		No	ClinGen TOPMed
rs1477911550 CA399591974	99	A>G		No	ClinGen gnomAD
rs373102565 CA399591952	100	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777072762 CA8575912	100	H>Y		No	ClinGen ExAC
CA399591938 rs1163442276	101	A>G		No	ClinGen TOPMed
CA8575910 rs573158499	101	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773447311 CA8575909	102	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1217478736 CA399591915	103	T>M		No	ClinGen gnomAD
rs1328937078 CA399591900	104	S>T		No	ClinGen TOPMed
rs748416987 CA8575907	105	N>K		No	ClinGen ExAC gnomAD
CA8575905 rs769532432	107	V>E		No	ClinGen ExAC gnomAD
CA290756615 rs142710988	108	S>I		No	ClinGen ESP gnomAD
CA399591814 rs1281079248	110	L>V		No	ClinGen TOPMed
rs1400099255 CA399591785	112	E>A		No	ClinGen gnomAD
rs780935995 CA8575903	112	E>K		No	ClinGen ExAC gnomAD
rs879133876 CA290756611	113	K>N		No	ClinGen Ensembl
rs751034060 CA8575901	115	R>S		No	ClinGen ExAC TOPMed gnomAD
rs777309097 CA399591729	116	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8575899 rs758025496	119	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8575897 rs759755120	121	V>A		No	ClinGen ExAC gnomAD
rs1020254078 CA290756604	121	V>L		No	ClinGen Ensembl
CA399591598 rs1243774217	123	T>I		No	ClinGen gnomAD
rs1441613382 CA399591582	124	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772323287 CA8575892	125	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762110643 CA8575891	126	G>C		No	ClinGen ExAC gnomAD
rs202157898 CA399591540	126	G>D		No	ClinGen gnomAD
rs202157898 CA290756593	126	G>V		No	ClinGen gnomAD
CA8575890 rs774501337	127	S>I		No	ClinGen ExAC TOPMed gnomAD
rs774501337 CA290756592	127	S>N		No	ClinGen ExAC TOPMed gnomAD
rs150787538 CA8575889	129	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8575887 rs776524839	130	R>G		No	ClinGen ExAC gnomAD
CA8575886 rs770829509	130	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1167961779 CA399591444	131	Q>H		No	ClinGen TOPMed
rs1433222787 CA399591426	132	A>E		No	ClinGen TOPMed gnomAD
rs1281913299 CA399591434	132	A>T		No	ClinGen Ensembl
rs1433222787 CA399591422	132	A>V		No	ClinGen TOPMed gnomAD
CA399591411 rs1336505093	133	G>E		No	ClinGen gnomAD
CA399591371 rs1464405223	135	I>M		No	ClinGen gnomAD
rs1399750041 CA399591365	136	K>E		No	ClinGen gnomAD
CA290756580 rs893922689	137	K>N		No	ClinGen TOPMed gnomAD
CA290756577 rs893027709	139	E>D		No	ClinGen TOPMed gnomAD
COSM1610270 rs1411785101 CA399591308	140	V>I	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8575884 rs201698896	141	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA290756575 rs201698896	141	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA399591291 rs1447161187	141	N>S		No	ClinGen TOPMed
CA290756573 rs201698896	141	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs200111087 CA399591279	142	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1238004112 CA399591277	142	E>G		No	ClinGen gnomAD
rs200111087 CA8575883	142	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1205263846 CA399591271	143	A>T		No	ClinGen gnomAD
rs747663663 CA8575882	143	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8575880 rs754680564	144	E>G		No	ClinGen ExAC gnomAD
CA8575881 rs778370861	144	E>K		No	ClinGen ExAC TOPMed gnomAD
rs926769233 CA290756564	145	L>M		No	ClinGen TOPMed gnomAD
rs926769233 CA399591242	145	L>V		No	ClinGen TOPMed gnomAD
rs1310007196 CA399591226	146	L>P		No	ClinGen gnomAD
CA399591219 rs1380454837	147	R>Q		No	ClinGen gnomAD
TCGA novel	148	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290756561 rs141261532	149	R>L		No	ClinGen ESP gnomAD
CA8575878 rs756663183	150	N>D		No	ClinGen ExAC gnomAD
CA8575877 rs756663183	150	N>H		No	ClinGen ExAC gnomAD
CA8575875 rs767697428	152	K>E		No	ClinGen ExAC TOPMed gnomAD
rs767697428 CA399591157	152	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA290756553 rs188416400	153	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188416400 CA8575874	153	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1414351641 CA399591125	154	M>K		No	ClinGen TOPMed gnomAD
CA8575872 rs764185736	154	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1190808574 CA399591087	155	I>M		No	ClinGen TOPMed
rs776272294 CA8575869	156	Y>H		No	ClinGen ExAC gnomAD
rs866553377 CA290756544	157	Q>K		No	ClinGen Ensembl
CA290756542 rs1046903688	157	Q>R		No	ClinGen Ensembl
TCGA novel	159	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs561439489 CA290751132	163	P>L		No	ClinGen Ensembl
CA8575854 rs751566365	168	I>F		No	ClinGen ExAC TOPMed gnomAD
rs765450708 CA8575850	173	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1321628548 CA399586122	174	E>Q		No	ClinGen gnomAD
rs760406439 CA8575848	175	S>W		No	ClinGen ExAC gnomAD
CA8575847 rs773010943	176	E>Q		No	ClinGen ExAC gnomAD
rs761849919 CA8575845	179	P>L		No	ClinGen ExAC TOPMed gnomAD
CA290751076 rs145890853	179	P>S		No	ClinGen ESP gnomAD
CA399585868 rs143511306	180	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8575843 rs768266469	181	K>E		No	ClinGen ExAC
CA399585764 rs1383896830	182	E>D		No	ClinGen gnomAD
rs199720089 CA8575838	184	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8575839 rs199720089	184	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1002670725 CA290751033	185	E>K		No	ClinGen TOPMed gnomAD
CA8575836 rs757687163	188	E>G		No	ClinGen ExAC gnomAD
rs1373195058 CA399585574	189	G>D		No	ClinGen gnomAD
rs1195913465 CA399585534	191	R>L		No	ClinGen gnomAD
rs1195913465 CA399585541	191	R>Q		No	ClinGen gnomAD
CA290751006 rs958919087	193	E>G		No	ClinGen Ensembl
rs35308568 CA290751012 VAR_034416	193	E>Q		No	ClinGen UniProt Ensembl dbSNP
rs1201331305 CA399585458	195	D>E		No	ClinGen gnomAD
rs1462988029 CA399585449	196	A>G		No	ClinGen TOPMed gnomAD
rs1457408109 CA399585457	196	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399585445 rs1462988029	196	A>V		No	ClinGen TOPMed gnomAD
rs1198309615 CA399585430	197	A>V		No	ClinGen gnomAD
CA290751002 rs1003027848	198	A>T		No	ClinGen Ensembl
CA8575831 rs758438397	199	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1338573396 CA399585331	202	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752788979 CA399585320	203	S>*		No	ClinGen ExAC gnomAD
rs752788979 CA8575830	203	S>L		No	ClinGen ExAC gnomAD
CA8575829 rs137932986	204	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	206	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759783059 CA8575828	207	V>L		No	ClinGen ExAC gnomAD
rs750186456 CA8575827	210	E>K		No	ClinGen ExAC gnomAD
CA8575826 rs371441883	211	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs745314619 CA290750968	212	V>F		No	ClinGen TOPMed
rs1598570586 CA399585129	212	V>G		No	ClinGen Ensembl
CA8575825 rs146929422	213	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149017106 CA8575823	216	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000992722 rs149017106 CA8575822	216	S>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	216	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399585022 rs1252853553 COSM187032	218	A>T	large_intestine Variant assessed as Somatic; impact. prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA399585002 rs1473759689	219	E>G		No	ClinGen TOPMed
CA8575818 rs769543146	220	R>H		No	ClinGen ExAC TOPMed gnomAD
CA290750916 rs769543146	220	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8575817 rs745568512	221	I>N		No	ClinGen ExAC gnomAD
rs781683733 CA8575816	222	K>Q		No	ClinGen ExAC gnomAD
rs932790012 COSM979484 CA290750881	223	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs771394691 CA8575815	223	R>S		No	ClinGen ExAC gnomAD
CA399584874 rs1361295024	224	S>N		No	ClinGen gnomAD
CA399584829 rs1335922636	226	L>M		No	ClinGen gnomAD
rs778285901 CA8575813	228	R>S		No	ClinGen ExAC gnomAD
CA399584753 rs1481200272	230	D>N		No	ClinGen TOPMed gnomAD
rs1164738810 CA399584743	230	D>V		No	ClinGen gnomAD
rs1379023751 CA399584653	233	K>N		No	ClinGen gnomAD
CA399584645 rs1392190610	234	K>E		No	ClinGen TOPMed
rs758852655 CA8575811	237	S>F		No	ClinGen ExAC
rs779002425 CA8575809	239	E>A		No	ClinGen ExAC gnomAD
CA399584459 rs576949427	239	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8575810 rs752731739	239	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8575807 rs780930269	240	K>R		No	ClinGen ExAC gnomAD
rs1028636437 CA290750843	241	M>L		No	ClinGen Ensembl
CA399584378 rs921308426	241	M>R		No	ClinGen TOPMed gnomAD
CA290750835 rs921308426	241	M>T		No	ClinGen TOPMed gnomAD
CA399584359 rs558595833	242	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1224862090 CA399584358	242	E>A		No	ClinGen gnomAD
TCGA novel	242	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558595833 CA8575806	242	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs150258613 CA8575804	243	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399584247 rs1488442399	247	R>C		No	ClinGen gnomAD
rs1283817019 COSM1263567 CA399584244	247	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1239077815 CA399584225	248	T>S		No	ClinGen gnomAD
TCGA novel	249	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290750799 rs868528569	251	N>K		No	ClinGen gnomAD
rs576414094 CA8575802	253	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs576414094 CA8575803	253	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA290750766 rs867152357	254	K>T		No	ClinGen Ensembl
rs1280903662 CA399584092	255	T>A		No	ClinGen gnomAD
rs775121102 CA8575801	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1406256833 CA399584046	257	L>P		No	ClinGen gnomAD
rs1303176693 CA399584051	257	L>V		No	ClinGen gnomAD
CA399584029 rs1339659103	258	K>R		No	ClinGen TOPMed
rs1277606866 CA399583992	260	K>N		No	ClinGen gnomAD
rs764902125 CA8575800	260	K>R		No	ClinGen ExAC gnomAD
rs901756745 CA290750705	261	E>K		No	ClinGen Ensembl
COSM3819627 rs1567776298 CA399583848	266	T>M	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA399583789 rs1401642173	270	L>V		No	ClinGen gnomAD
rs1567776290 CA399583779	271	E>K		No	ClinGen Ensembl
CA399583757 rs1171009575	272	K>Q		No	ClinGen gnomAD
CA8575798 rs776355874	272	K>R		No	ClinGen ExAC gnomAD
rs756872881 CA8575797	273	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1347622897 CA399583690	275	N>Y		No	ClinGen gnomAD
CA290750652 rs773482444	277	L>V		No	ClinGen ExAC TOPMed gnomAD
CA399583607 rs772598451	279	T>K		No	ClinGen ExAC gnomAD
CA399583574 rs1598570401	281	L>R		No	ClinGen Ensembl
CA290750634 rs947464894	282	V>L		No	ClinGen Ensembl
TCGA novel	283	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8575791 rs367826339 COSM1196946	283	P>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1283529660 CA399583516	284	A>G		No	ClinGen gnomAD
rs1343774600 CA399583525	284	A>P		No	ClinGen gnomAD
rs756310824 CA8575789	285	E>G		No	ClinGen ExAC gnomAD
rs1424775566 CA399583486	286	R>G		No	ClinGen TOPMed
COSM3421577 rs146596349 CA399583472	287	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	287	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447105147 CA399583457	288	E>K		No	ClinGen TOPMed
CA399583431 rs1347499580	289	K>E		No	ClinGen gnomAD
CA399583386 COSM1383365 rs1370778063	292	T>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA399583377 rs1431178600	293	S>*		No	ClinGen TOPMed
rs752748750 CA8575786	295	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752748750 CA8575785	295	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1398981865 CA399583317	298	R>G		No	ClinGen gnomAD
CA8575783 rs144331065 COSM303058	298	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA399583297 rs1363007347	300	S>A		No	ClinGen TOPMed
rs1363007347 CA399583298	300	S>P		No	ClinGen TOPMed
rs754376801 CA8575781	302	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1423058404 CA399583262	303	P>L		No	ClinGen gnomAD
rs760283146 CA8575780	304	D>G		No	ClinGen ExAC
CA290750545 rs962205050	304	D>N		No	ClinGen Ensembl
rs1015057160 CA290750538	305	H>Q		No	ClinGen Ensembl
rs772376361 CA8575778	306	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772376361 CA399583230	306	V>M		No	ClinGen ExAC TOPMed gnomAD
rs760837320 CA8575777 CA290750521	308	Y>*		No	ClinGen ExAC gnomAD
rs1460755012 CA399583194	309	A>T		No	ClinGen gnomAD
CA399583175 rs1315498671	310	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	310	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315498671 CA399583171	310	R>L		No	ClinGen TOPMed gnomAD
rs1315498671 CA399583173	310	R>P		No	ClinGen TOPMed gnomAD
CA399583148 rs1214670905	312	K>T		No	ClinGen gnomAD
CA399583135 rs1464892230	313	T>S		No	ClinGen TOPMed
CA290750472 COSM1263569 rs901807448	314	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	314	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756338972 CA399583117	315	V>F		No	ClinGen ExAC TOPMed gnomAD
rs756338972 CA8575773	315	V>I		No	ClinGen ExAC TOPMed gnomAD
CA399583100 rs1376755210	316	Y>C		No	ClinGen TOPMed
rs1376755210 CA399583098	316	Y>F		No	ClinGen TOPMed
CA399583085 rs1464227382	317	K>R		No	ClinGen gnomAD
CA399583030 rs1598570267	322	T>P		No	ClinGen Ensembl
rs777620536 CA8575771	323	F>L		No	ClinGen ExAC gnomAD
CA399582995 rs1421562805	324	H>Q		No	ClinGen TOPMed gnomAD
rs758200126 CA8575770	324	H>R		No	ClinGen ExAC TOPMed gnomAD
rs752558303 CA8575769	329	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs534775609 CA8575768	329	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1434193696 CA399582914	330	E>V		No	ClinGen TOPMed
CA8575766 rs753360569	332	Q>R		No	ClinGen ExAC gnomAD
RCV000202670 rs864309600 CA248869	334	E>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs765853230 CA399582842	336	L>F		No	ClinGen ExAC gnomAD
rs765853230 CA8575765	336	L>I		No	ClinGen ExAC gnomAD
rs1367387517 CA399582809	338	A>V		No	ClinGen TOPMed
CA399582804 rs1204530093	339	T>S		No	ClinGen gnomAD
rs750106182 CA8575763	340	E>K		No	ClinGen ExAC gnomAD
rs762107498 CA8575761	341	M>I		No	ClinGen ExAC gnomAD
CA399582733 rs1598570220	344	V>G		No	ClinGen Ensembl
rs774719095 CA8575760	344	V>M		No	ClinGen ExAC gnomAD
COSM296034 CA8575759 rs769110133	346	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1259259564 CA399582703	347	D>A		No	ClinGen TOPMed
rs1204315013 CA399582696	347	D>E		No	ClinGen gnomAD
TCGA novel	347	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399582699 rs1259259564	347	D>V		No	ClinGen TOPMed
CA399582681 rs1325947124	348	D>E		No	ClinGen gnomAD
CA399582665 rs1261446903	349	D>E		No	ClinGen gnomAD
CA399582639 rs1598570196	351	G>D		No	ClinGen Ensembl
CA399582632 rs1444442045	352	G>R		No	ClinGen gnomAD
rs1444442045 CA399582631	352	G>S		No	ClinGen gnomAD
TCGA novel	353	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763501719 CA8575757	353	A>V		No	ClinGen ExAC gnomAD
TCGA novel	355	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs552276447 CA8575754 CA8575755	356	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8575753 COSM395052 rs552276447	356	G>W	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA399582573 rs1389659880	359	G>A		No	ClinGen gnomAD
rs1437599375 CA399582576	359	G>S		No	ClinGen gnomAD
rs1244431949 CA399582534	362	R>L		No	ClinGen gnomAD
CA399582532 rs1221121013	363	R>G		No	ClinGen gnomAD
rs1043542945 CA290750307	363	R>H		No	ClinGen TOPMed gnomAD
CA290750306 rs868789955	364	G>E		No	ClinGen Ensembl
CA399582518 rs1294592148	364	G>R		No	ClinGen gnomAD
rs1238422322 CA399582507	365	S>G		No	ClinGen gnomAD
CA399582483 rs1316755252	366	S>I		No	ClinGen gnomAD
rs969037683 CA290750300	367	P>H		No	ClinGen TOPMed
rs778895171 CA8575750	367	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8575749 rs201945184	368	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs112863315 CA290750294	369	V>G		No	ClinGen Ensembl
rs1405645521 CA399582397	371	A>G		No	ClinGen gnomAD
CA8575748 rs753774660	371	A>P		No	ClinGen ExAC gnomAD
rs753774660 CA399582406	371	A>T		No	ClinGen ExAC gnomAD
CA399582342 rs1363062135	374	E>D		No	ClinGen gnomAD
CA399582346 rs1368397586	374	E>V		No	ClinGen TOPMed
rs1388678405 CA399582288	377	E>D		No	ClinGen TOPMed
CA399582271 rs1420450943	378	E>K		No	ClinGen TOPMed gnomAD
CA399582275 rs1420450943	378	E>Q		No	ClinGen TOPMed gnomAD
CA8575746 rs755508830	379	S>*		No	ClinGen ExAC TOPMed gnomAD
rs755508830 CA399582222	379	S>L		No	ClinGen ExAC TOPMed gnomAD
CA399582185 rs1480515810	380	D>E		No	ClinGen gnomAD
rs1271661964 CA399582167	381	A>P		No	ClinGen gnomAD
CA399582145 rs1215143132	381	A>V		No	ClinGen gnomAD
rs202120909 CA8575744	382	V>L		No	ClinGen ExAC gnomAD
rs202120909 CA399582121	382	V>M		No	ClinGen ExAC gnomAD
rs991180491 CA290750235	383	L>M		No	ClinGen TOPMed gnomAD
rs879645490 CA290750229	384	V>M		No	ClinGen Ensembl
rs1310606560 CA399582073	385	D>H		No	ClinGen gnomAD
rs1282891886 CA399582024	386	K>Q		No	ClinGen gnomAD
CA290750193 rs865827907	387	S>R		No	ClinGen gnomAD
CA399581964 rs1224200603	388	D>Y		No	ClinGen TOPMed gnomAD
CA399581904 rs1438392504	389	S>T		No	ClinGen gnomAD
CA399581879 rs1238043442	390	D>Y		No	ClinGen gnomAD

1 associated diseases with Q6NZI2

[MIM: 613327]: Congenital generalized lipodystrophy 4 (CGL4)

A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:19726876, ECO:0000269|PubMed:20684003}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269|PubMed:19726876, ECO:0000269|PubMed:20684003}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q6NZI2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6NZI2

Functions

		Description
EC Number
Subcellular Localization	Membrane, caveola Cell membrane Microsome Endoplasmic reticulum Cytoplasm, cytosol Mitochondrion Nucleus	Translocates to the cytoplasm from the caveolae upon insulin stimulation (PubMed:17026959) Colocalizes with CAV1 in lipid rafts in adipocytes Localizes in the caveolae in a caveolin-dependent manner (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 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.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

3 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
RNA binding	Binding to an RNA molecule or a portion thereof.
rRNA primary transcript binding	Binding to an unprocessed ribosomal RNA transcript.

5 GO annotations of biological process

Name	Definition
positive regulation of cell motility	Any process that activates or increases the frequency, rate or extent of cell motility.
protein secretion	The controlled release of proteins from a cell.
rRNA transcription	The synthesis of ribosomal RNA (rRNA), any RNA that forms part of the ribosomal structure, from a DNA template.
termination of RNA polymerase I transcription	A transcription termination process that completes the production of a ribosomal RNA transcript. RNAP I termination requires binding of a terminator protein to specific sequences downstream of the transcription unit.
transcription initiation at RNA polymerase I promoter	A transcription initiation process that takes place at a RNA polymerase I gene promoter. Ribosomal RNAs (rRNA) genes are transcribed by RNA polymerase I.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5PJI6	CAVIN4	Caveolae-associated protein 4	Bos taurus (Bovine)	PR
Q5BKX8	CAVIN4	Caveolae-associated protein 4	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
MEDPTLYIVE	RPLPGYPDAE	APEPSSAGAQ	AAEEPSGAGS	EELIKSDQVN	GVLVLSLLDK
70	80	90	100	110	120
IIGAVDQIQL	TQAQLEERQA	EMEGAVQSIQ	GELSKLGKAH	ATTSNTVSKL	LEKVRKVSVN
130	140	150	160	170	180
VKTVRGSLER	QAGQIKKLEV	NEAELLRRRN	FKVMIYQDEV	KLPAKLSISK	SLKESEALPE
190	200	210	220	230	240
KEGEELGEGE	RPEEDAAALE	LSSDEAVEVE	EVIEESRAER	IKRSGLRRVD	DFKKAFSKEK
250	260	270	280	290	300
MEKTKVRTRE	NLEKTRLKTK	ENLEKTRHTL	EKRMNKLGTR	LVPAERREKL	KTSRDKLRKS
310	320	330	340	350	360
FTPDHVVYAR	SKTAVYKVPP	FTFHVKKIRE	GQVEVLKATE	MVEVGADDDE	GGAERGEAGD
370	380
LRRGSSPDVH	ALLEITEESD	AVLVDKSDSD