AiPD: Autoinhibited Protein Database

Q5VUE5

Gene name	C1orf53
Protein name	Uncharacterized protein C1orf53
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:388722
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-109 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-109 (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 Q5VUE5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VUE5-F1	Predicted				AlphaFoldDB

172 variants for Q5VUE5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1313384 rs769953107	2	A>V		No	ClinGen ExAC TOPMed gnomAD
CA36095269 rs988095408	5	Q>L		No	ClinGen TOPMed
CA344091060 rs1429879979	6	I>M		No	ClinGen Ensembl
rs1194097227 CA344091064	7	W>*		No	ClinGen TOPMed gnomAD
rs775617419 CA1313386	7	W>*		No	ClinGen ExAC gnomAD
CA1313385 rs775617419	7	W>C		No	ClinGen ExAC gnomAD
CA344091065 rs1194097227	7	W>S		No	ClinGen TOPMed gnomAD
rs915021251 CA36095270	8	A>E		No	ClinGen TOPMed gnomAD
rs915021251 CA36095271	8	A>V		No	ClinGen TOPMed gnomAD
rs771958221 CA344091075	9	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771958221 CA1313387	9	R>P		No	ClinGen ExAC TOPMed gnomAD
rs771958221 CA344091074	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344091079 rs1297385438	10	T>K		No	ClinGen gnomAD
rs374493997 CA1313390	12	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753614382 CA1313391	13	A>V		No	ClinGen ExAC
rs944463077 CA36095274	14	L>V		No	ClinGen Ensembl
rs1007060267 CA36095275	16	R>G		No	ClinGen TOPMed gnomAD
rs1323255857 CA344091136	19	S>F		No	ClinGen TOPMed
rs759201237 CA1313393	20	A>T		No	ClinGen ExAC gnomAD
CA1313394 rs764816683	20	A>V		No	ClinGen ExAC
rs752208053 CA1313395	21	A>V		No	ClinGen ExAC gnomAD
CA36095278 rs1040416178	22	P>L		No	ClinGen TOPMed
rs1040416178 CA36095277	22	P>Q		No	ClinGen TOPMed
CA344091149 rs1040416178	22	P>R		No	ClinGen TOPMed
CA344091148 rs1287407287	22	P>S		No	ClinGen TOPMed
CA1313397 rs778369892	24	P>L		No	ClinGen ExAC gnomAD
rs1160952049 CA344091166	25	A>V		No	ClinGen gnomAD
CA1313398 rs552161638	26	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344091173 rs1414006241	27	L>V		No	ClinGen gnomAD
COSM1583914 rs201010526 CA1313400	28	W>*	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM1583914 rs367751303 CA1313399	28	W>*	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201010526 CA1313401	28	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344091185 rs1430311401	29	V>L		No	ClinGen gnomAD
rs756312153 CA1313402	30	R>K		No	ClinGen ExAC gnomAD
rs756312153 CA344091193	30	R>T		No	ClinGen ExAC gnomAD
rs1459811417 CA344091200	31	A>G		No	ClinGen TOPMed
rs992160925 CA36095279	32	G>A		No	ClinGen TOPMed
CA344091215 rs528586633	33	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1303660188 CA344091217	34	R>*		No	ClinGen gnomAD
rs1303660188 CA344091216	34	R>G		No	ClinGen gnomAD
CA1313404 rs749301774	34	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1313406 rs774479846	35	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA1313407 rs374026453	35	Q>R		No	ClinGen ESP ExAC gnomAD
rs770822242 CA1313408	36	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA344091235 rs1191684728	37	L>V		No	ClinGen TOPMed
rs1263772845 CA344091239	38	S>R		No	ClinGen gnomAD
CA344091250 rs1250911330	39	L>S		No	ClinGen TOPMed
CA36095281 rs568527609	41	L>F		No	ClinGen 1000Genomes
rs1460593334 CA344091272	42	C>W		No	ClinGen gnomAD
CA1313412 rs764874591	43	P>L		No	ClinGen ExAC gnomAD
CA344091281 rs775293254	44	A>D		No	ClinGen ExAC TOPMed gnomAD
CA1313413 rs775293254	44	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1313414 rs202128014	46	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1313416 rs751158476	47	G>A		No	ClinGen ExAC gnomAD
rs751158476 CA1313417	47	G>E		No	ClinGen ExAC gnomAD
rs763695820 CA1313415 CA344091298	47	G>R		No	ClinGen ExAC TOPMed gnomAD
CA36095282 rs751158476	47	G>V		No	ClinGen ExAC gnomAD
rs1013034915 CA36095283	49	C>S		No	ClinGen Ensembl
CA344091321 rs1415968327	51	G>S		No	ClinGen gnomAD
rs774637882 CA1313418	53	A>E		No	ClinGen ExAC TOPMed gnomAD
CA344091335 rs1189829465	53	A>S		No	ClinGen TOPMed gnomAD
rs774637882 CA344091337	53	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1571766339 CA344091339	54	P>A		No	ClinGen Ensembl
rs756441463 CA344091355	56	T>K		No	ClinGen ExAC TOPMed gnomAD
rs756441463 CA1313420	56	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749505753 CA1313422	58	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1313421 rs780267772	58	G>S		No	ClinGen ExAC gnomAD
CA1313423 rs755232041	59	R>K		No	ClinGen ExAC TOPMed gnomAD
CA344091375 rs1268945365	60	P>Q		No	ClinGen gnomAD
rs867607805 CA36095285	60	P>S		No	ClinGen Ensembl
CA344091383 rs1262890408	61	E>D		No	ClinGen gnomAD
CA1313425 rs748249993	61	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1313424 rs372054031	61	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA344091385 rs1322450753	62	R>G		No	ClinGen gnomAD
rs1201425730 CA344091392	63	A>P		No	ClinGen gnomAD
CA344091396 rs1460071143	63	A>V		No	ClinGen TOPMed
CA344091401 rs1269577655	64	A>V		No	ClinGen gnomAD
rs770857547 CA1313426	65	R>S		No	ClinGen ExAC gnomAD
rs1002928927 CA36095286	66	P>L		No	ClinGen Ensembl
rs1199943843 CA344091423	68	V>A		No	ClinGen gnomAD
rs745616768 CA1313428	68	V>M		No	ClinGen ExAC gnomAD
rs956069888 CA36095287	69	S>G		No	ClinGen TOPMed gnomAD
CA344091431 rs1479309930	69	S>R		No	ClinGen gnomAD
rs1176068285 CA344091428	69	S>T		No	ClinGen TOPMed
CA36095288 rs769465005	70	E>*		No	ClinGen ExAC TOPMed gnomAD
CA1313432 rs775495756	70	E>D		No	ClinGen ExAC TOPMed gnomAD
rs769465005 CA1313429	70	E>K		No	ClinGen ExAC TOPMed gnomAD
CA36095289 rs1022205351	71	E>K		No	ClinGen Ensembl
rs1352172826 CA344091447	72	L>S		No	ClinGen gnomAD
rs773949964 CA1313434	73	T>I		No	ClinGen ExAC TOPMed gnomAD
rs773949964 CA1313435	73	T>N		No	ClinGen ExAC TOPMed gnomAD
CA344091456 rs750909839	74	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1313437 rs750909839	74	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766697272 CA1313439	75	A>S		No	ClinGen ExAC gnomAD
rs1289843289 CA344091464	75	A>V		No	ClinGen gnomAD
CA36095290 rs1039884124	76	E>A		No	ClinGen TOPMed gnomAD
rs910416410 CA344091470	76	E>D		No	ClinGen gnomAD
CA344091465 rs1303308002	76	E>K		No	ClinGen TOPMed
CA1313440 rs540100387	77	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA344091474 rs540100387	77	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA344091477 rs1453297127	78	Q>*		No	ClinGen TOPMed gnomAD
CA344091480 rs1329671605	78	Q>L		No	ClinGen TOPMed
CA1313441 rs755144036	79	I>S		No	ClinGen ExAC gnomAD
CA344091494 rs1571766439	80	A>E		No	ClinGen Ensembl
rs779133381 CA1313442	80	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344091500 rs1376384715	81	E>D		No	ClinGen TOPMed gnomAD
CA344091498 rs1364665474	81	E>G		No	ClinGen gnomAD
rs572840332 CA1313444	81	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344091502 rs1469804092	82	L>M		No	ClinGen gnomAD
CA344091505 rs1156947622	82	L>P		No	ClinGen gnomAD
COSM1172085 rs745790473 CA1313446	83	H>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA344091517 rs1364182416	84	A>D		No	ClinGen TOPMed gnomAD
CA344091514 rs1303097200	84	A>T		No	ClinGen TOPMed gnomAD
rs1364182416 CA344091519	84	A>V		No	ClinGen TOPMed gnomAD
CA344091525 rs1336034756	85	A>V		No	ClinGen gnomAD
rs1277367851 CA344091526	86	A>T		No	ClinGen gnomAD
rs1044516468 CA36095295	86	A>V		No	ClinGen Ensembl
rs1290950453 CA344091537	87	C>*		No	ClinGen gnomAD
rs1357874383 CA344091533	87	C>R		No	ClinGen TOPMed gnomAD
rs1357874383 CA344091532	87	C>S		No	ClinGen TOPMed gnomAD
CA344091534 rs1245998247	87	C>Y		No	ClinGen gnomAD
rs1489837438 CA344091543	88	A>G		No	ClinGen TOPMed gnomAD
rs1489837438 CA344091544	88	A>V		No	ClinGen TOPMed gnomAD
rs536041809 CA1313465	89	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344091561 rs1407915673	89	A>V		No	ClinGen gnomAD
CA344091571 rs1571767726	91	Q>P		No	ClinGen Ensembl
rs756067434 CA1313466	92	L>V		No	ClinGen ExAC gnomAD
CA344091580 rs1483708440	93	N>D		No	ClinGen TOPMed
rs1483708440 CA344091582	93	N>H		No	ClinGen TOPMed
CA1313468 rs780176821	94	Y>H		No	ClinGen ExAC gnomAD
CA344091599 rs1383359868	95	V>A		No	ClinGen gnomAD
rs768588490 CA1313470	97	P>L		No	ClinGen ExAC gnomAD
CA1313471 rs200185591	101	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344091635 rs200185591	101	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1313472 rs747722650	102	V>A		No	ClinGen ExAC gnomAD
CA1313473 rs771803618	106	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	106	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344091675 rs1261444216	107	I>M		No	ClinGen gnomAD
rs1222369556 CA344091673	107	I>T		No	ClinGen TOPMed
COSM1337622 CA36095583 rs1040500033	108	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA1313474 rs772544322	109	H>P		No	ClinGen ExAC gnomAD
rs772544322 CA1313475	109	H>R		No	ClinGen ExAC gnomAD
CA1313476 rs771361126	110	L>W		No	ClinGen ExAC TOPMed gnomAD
CA36095584 rs749731186	111	Q>*		No	ClinGen TOPMed gnomAD
rs777135437 CA1313477	112	R>T		No	ClinGen ExAC gnomAD
rs1303193581 CA344091710	113	G>V		No	ClinGen TOPMed
rs1430379008 CA344091714	114	E>Q		No	ClinGen TOPMed gnomAD
CA36095585 rs186521541	115	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1313479 rs186521541	115	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs868021267 CA36095586	116	C>S		No	ClinGen Ensembl
CA344091734 rs1403365722	117	G>R		No	ClinGen gnomAD
rs372599540 CA1313481	119	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs372599540 CA1313482 COSM1583913	119	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1306507632 CA344091785	123	C>R		No	ClinGen gnomAD
CA36095702 rs377665268	124	P>S		No	ClinGen ESP TOPMed gnomAD
rs763406616 CA344091804	125	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs774650124 CA1313501	129	N>S		No	ClinGen ExAC TOPMed gnomAD
CA344091827 rs1290049048	129	N>Y		No	ClinGen TOPMed
rs767703501 CA1313503	132	D>G		No	ClinGen ExAC TOPMed gnomAD
rs750577427 CA1313504	133	P>L		No	ClinGen ExAC gnomAD
rs997183913 CA36095703	133	P>S		No	ClinGen Ensembl
CA344091859 rs1467732889	134	S>A		No	ClinGen TOPMed
CA344091864 rs1416794365	135	K>*		No	ClinGen TOPMed gnomAD
CA344091863 rs1416794365	135	K>E		No	ClinGen TOPMed gnomAD
rs894476361 CA36095704	136	K>E		No	ClinGen TOPMed
CA1313506 rs184806237	136	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344091893 rs1356090053	139	F>I		No	ClinGen gnomAD
rs1442599831 CA344091900	139	F>L		No	ClinGen TOPMed gnomAD
CA36095705 rs375556599	142	Y>C		No	ClinGen ESP gnomAD
CA344091939 rs529713555	145	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1313508 rs529713555	145	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344091949 rs1462361406	146	V>W		No	ClinGen TOPMed

No associated diseases with Q5VUE5

2 regional properties for Q5VUE5

Type	Name	Position	InterPro Accession
domain	W2 domain	248 - 415	IPR003307
domain	BZW1/2, W2 domain	218 - 408	IPR043510

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAARQIWART	GAALCRQPSA	APPPAPLWVR	AGFRQQLSLT	LCPANEGNCG	GSAPSTPGRP
70	80	90	100	110	120
ERAARPSVSE	ELTAAERQIA	ELHAAACAAG	QLNYVDPATG	YVVLTQIAHL	QRGECCGSAC
130	140
RHCPYGQVNV	KDPSKKKQFN	SYFYV