AiPD: Autoinhibited Protein Database

Q6X4T0

Gene name	C12orf54 (HSD-29, HSD-30, HSD29, HSD30)
Protein name	Uncharacterized protein C12orf54
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:121273
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-127 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-127 (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 Q6X4T0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6X4T0-F1	Predicted				AlphaFoldDB

118 variants for Q6X4T0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1346128125 CA384553598	2	A>V		No	ClinGen TOPMed
rs767545967 CA236565306	3	Q>*		No	ClinGen gnomAD
rs1301746780 CA384553603	3	Q>R		No	ClinGen TOPMed gnomAD
CA384553613 rs1231033010	4	H>Q		No	ClinGen gnomAD
CA384553612 rs1268240215	4	H>R		No	ClinGen gnomAD
CA6538861 rs773030339	6	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1159289236 CA384553623	6	C>G		No	ClinGen TOPMed
rs1261956393 CA384553625	6	C>S		No	ClinGen gnomAD
CA384553624 rs1261956393	6	C>Y		No	ClinGen gnomAD
rs1245758490 CA384553633	7	Q>H		No	ClinGen gnomAD
rs765291270 CA6538862	7	Q>P		No	ClinGen ExAC gnomAD
CA384553635 rs1338502816	8	D>N		No	ClinGen gnomAD
rs1193241816 CA384553679	12	K>R		No	ClinGen gnomAD
CA6538864 rs763127509	15	M>I		No	ClinGen ExAC gnomAD
CA6538866 rs751901632	16	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6538865 rs146917894	16	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	18	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384553806 rs1386666286	19	Q>*		No	ClinGen gnomAD
rs757593084 CA6538868	20	Q>*		No	ClinGen ExAC gnomAD
rs757593084 CA384553827	20	Q>K		No	ClinGen ExAC gnomAD
rs1293867825 CA384553863	22	S>I		No	ClinGen gnomAD
rs767016841 CA236567868	22	S>R		No	ClinGen ExAC TOPMed gnomAD
CA236567869 rs974990887	23	T>I		No	ClinGen TOPMed
rs754452949 CA6538893	24	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6538895 rs374989249	25	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6538894 rs374989249	25	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	26	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758141471 CA6538896	27	E>K		No	ClinGen ExAC
rs559650289 CA6538897	28	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs187824566 CA6538898	29	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384555084 rs1432436167	29	M>T		No	ClinGen gnomAD
CA384555097 rs1334755530	30	R>K		No	ClinGen TOPMed
CA236567908 rs141753072	32	Q>L		No	ClinGen 1000Genomes
CA6538911 rs764645425	33	E>G		No	ClinGen ExAC gnomAD
rs868088728 CA236568394	33	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1237018582 CA384555241	37	T>A		No	ClinGen TOPMed gnomAD
CA384555239 rs1237018582	37	T>P		No	ClinGen TOPMed gnomAD
rs915056181 CA236568415	39	T>I		No	ClinGen Ensembl
CA236568411 rs745743086	39	T>P		No	ClinGen Ensembl
rs757969295 CA6538913	41	T>N		No	ClinGen ExAC TOPMed gnomAD
rs777428394 CA6538914	43	W>*		No	ClinGen ExAC gnomAD
rs777428394 CA384555330	43	W>C		No	ClinGen ExAC gnomAD
CA6538915 rs146846021	44	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6538937 rs140626422	52	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371373533 CA6538935	52	D>G		No	ClinGen ESP ExAC gnomAD
rs371373533 CA6538936	52	D>V		No	ClinGen ESP ExAC gnomAD
CA6538938 rs748107750	53	I>V		No	ClinGen ExAC gnomAD
CA6538939 rs758564003	54	Q>P		No	ClinGen ExAC gnomAD
CA384555581 rs1459353569	56	E>A		No	ClinGen TOPMed
rs199649180 CA6538985	58	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769112097 CA6538986	60	D>G		No	ClinGen ExAC gnomAD
CA236572723 rs900120333	60	D>N		No	ClinGen TOPMed
rs779397043 CA6538987	61	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1244305843 CA384556151	61	A>V		No	ClinGen TOPMed
rs146567743 CA236572756	62	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146567743 CA384556157	62	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs146567743 CA6538989	62	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs61940778 CA6538988	62	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772662641 CA6538990	63	I>N		No	ClinGen ExAC gnomAD
CA384556169 rs772662641	63	I>S		No	ClinGen ExAC gnomAD
CA6538991 rs760341392	64	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6538993 rs369601605	64	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6538992 rs369601605	64	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA236572817 rs955250500	65	G>R		No	ClinGen gnomAD
CA384556576 rs755348383 CA6539003	66	M>I		No	ClinGen ExAC gnomAD
rs149144972 CA6539002	66	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539004 rs779307132	68	N>S		No	ClinGen ExAC TOPMed gnomAD
CA384556594 rs1592204607	69	C>R		No	ClinGen Ensembl
rs1220979776 CA384556614	71	M>I		No	ClinGen gnomAD
CA6539006 rs368186800	71	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA384556633 rs1254066480	74	M>I		No	ClinGen gnomAD
rs1472923041 CA384556642	76	S>T		No	ClinGen gnomAD
CA6539007 rs370792737	79	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA384556662 rs370792737	79	R>T		No	ClinGen ESP ExAC gnomAD
CA384556704 rs1409343521	83	I>M		No	ClinGen TOPMed gnomAD
rs1377406909 CA384556703	83	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1390665848 CA384556699	83	I>V		No	ClinGen gnomAD
TCGA novel	85	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs553934797 CA6539029	85	P>L		No	ClinGen 1000Genomes ExAC gnomAD
VAR_030252 CA6539031 rs11458	86	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1335592933 CA384556726	87	D>G		No	ClinGen gnomAD
TCGA novel	87	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6539033 rs144168660	89	L>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384556748 rs1052300938 CA236576456	90	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384556750 rs1592205802	91	T>P		No	ClinGen Ensembl
rs576835411 CA6539036	92	P>T		No	ClinGen ExAC gnomAD
TCGA novel	94	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384556783 rs1198604397	96	R>G		No	ClinGen TOPMed
rs1050790708 CA236576496	96	R>S		No	ClinGen gnomAD
CA6539040 rs141336898	98	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6539041 rs753062253	100	S>R		No	ClinGen ExAC TOPMed gnomAD
rs763236083 CA6539042	101	S>F		No	ClinGen ExAC gnomAD
rs895134888 CA236576529	101	S>P		No	ClinGen TOPMed
rs267603486 CA236576545	102	G>R		No	ClinGen Ensembl
rs1166157253 CA384556837	104	Q>*		No	ClinGen gnomAD
CA384556850 rs1327613005	106	S>P		No	ClinGen TOPMed
CA6539043 rs1006235910	108	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA384556861 rs1427188756	108	G>S		No	ClinGen gnomAD
rs1006235910 CA384556865	108	G>V		No	ClinGen Ensembl
rs180819519 CA6539047	109	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759358040 CA6539048	109	R>H		No	ClinGen ExAC TOPMed gnomAD
rs180819519 CA6539046	109	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs993969074 CA236576586	111	H>R		No	ClinGen Ensembl
CA384556894 rs750004792	113	L>P		No	ClinGen ExAC gnomAD
CA6539049 rs750004792	113	L>R		No	ClinGen ExAC gnomAD
CA6539050 rs755778829	116	Q>E		No	ClinGen ExAC
TCGA novel	117	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1013061641 CA236576607	119	S>R		No	ClinGen Ensembl
rs768322460 CA6539054	121	S>L		No	ClinGen ExAC gnomAD
CA6539055 rs778833460	122	A>T		No	ClinGen ExAC gnomAD
CA6539056 rs748003402	122	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6539057 rs772043878	123	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA6539059 rs775393771	125	P>S		No	ClinGen ExAC TOPMed gnomAD
CA384556976 rs1284688976	126	G>*		No	ClinGen TOPMed gnomAD
rs775593080 CA6539061	127	P>L		No	ClinGen ExAC gnomAD
rs572723176 CA6539060	127	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA236576682 rs200203431	128	P>Q		No	ClinGen 1000Genomes
CA384556986 rs1478335390	128	P>S		No	ClinGen gnomAD

No associated diseases with Q6X4T0

2 regional properties for Q6X4T0

Type	Name	Position	InterPro Accession
domain	ABC1 atypical kinase-like domain	94 - 344	IPR004147
domain	UbiB domain, bacteria	94 - 344	IPR045308

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

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZX7		Uncharacterized protein C12orf54 homolog	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MAQHPCQDQE	QKVEMTSKQQ	RSTSIEETMR	PQEKQVTITE	TLWDQVLTVF	KDIQKELQED
70	80	90	100	110	120
ARIRGMSNCS	MTPMTSAPRT	GSIRPPDSLM	TPKLRRLQFS	SGEQPSGGRI	HNLKTQLFSQ

SAYYPGP