AiPD: Autoinhibited Protein Database

Q5U649

Gene name	C12orf60
Protein name	Uncharacterized protein C12orf60
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:144608
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

135-234 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

135-234 (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 Q5U649

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5U649-F1	Predicted				AlphaFoldDB

217 variants for Q5U649

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6464697 rs747460727	2	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6464698 rs371419537	3	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs942805721 CA233287595	4	E>A		No	ClinGen TOPMed
CA6464699 rs775285312	4	E>D		No	ClinGen ExAC gnomAD
rs942805721 CA384017329	4	E>G		No	ClinGen TOPMed
rs1476746741 CA384017327	4	E>Q		No	ClinGen TOPMed gnomAD
CA384017343 rs1430249570	5	S>L		No	ClinGen gnomAD
rs1469429691 CA384017353	6	E>A		No	ClinGen gnomAD
rs1174069820 CA384017358	6	E>D		No	ClinGen gnomAD
CA6464700 rs762513065	10	E>K		No	ClinGen ExAC gnomAD
CA6464702 rs779476748	12	L>P		No	ClinGen TOPMed gnomAD
CA384017442 rs1565424006	13	I>F		No	ClinGen Ensembl
CA6464705 rs774051849	13	I>S		No	ClinGen ExAC gnomAD
CA6464704 rs774051849	13	I>T		No	ClinGen ExAC gnomAD
rs901029864 CA233287617	15	A>D		No	ClinGen TOPMed
CA233287615 rs981758957	15	A>T		No	ClinGen Ensembl
CA384017475 rs1325974882	16	A>G		No	ClinGen TOPMed
rs200379721 CA233287622	17	K>R		No	ClinGen gnomAD
CA233287631 rs1015195310	18	M>I		No	ClinGen Ensembl
CA6464707 rs772826041	18	M>R		No	ClinGen ExAC TOPMed gnomAD
rs772826041 CA384017501	18	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	20	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275935395 CA384017547	21	F>L		No	ClinGen gnomAD
CA6464709 rs760523645	21	F>S		No	ClinGen ExAC gnomAD
rs766474771 CA6464710	22	H>R		No	ClinGen ExAC gnomAD
CA6464712 rs200925028	25	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384017589 rs1470684533	25	D>N		No	ClinGen TOPMed
CA233287656 rs973568617	26	L>V		No	ClinGen Ensembl
TCGA novel	27	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	28	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551584670 CA6464713	29	V>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	29	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752838015 CA6464714	32	T>I		No	ClinGen ExAC gnomAD
CA6464715 rs758815692	34	T>S		No	ClinGen ExAC gnomAD
CA384017722 rs778353141	36	L>F		No	ClinGen ExAC gnomAD
CA6464717 rs150460169	39	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6464718 rs757671340	39	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757671340 CA384017760	39	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779804281 CA6464719	40	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6464720 rs748925530	42	N>K		No	ClinGen ExAC
rs1206675271 CA384017800	42	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA384017819 rs1304158039	43	T>I		No	ClinGen TOPMed gnomAD
rs999826298 CA233287687	43	T>S		No	ClinGen TOPMed
rs1304158039 CA384017815	43	T>S		No	ClinGen TOPMed gnomAD
CA6464724 rs773986706	45	I>L		No	ClinGen ExAC
rs773986706 CA384017837	45	I>V		No	ClinGen ExAC
CA6464728 rs374044809	48	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA384017875 rs1284612873	49	A>P		No	ClinGen TOPMed gnomAD
CA384017876 rs1284612873	49	A>S		No	ClinGen TOPMed gnomAD
rs766144400 CA6464729	50	V>L		No	ClinGen ExAC gnomAD
CA384017885 rs868755778	51	K>E		No	ClinGen gnomAD
CA233287740 rs868755778	51	K>Q		No	ClinGen gnomAD
CA6464731 VAR_030226 rs17853860	51	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6464732 rs765497999	52	N>D		No	ClinGen ExAC gnomAD
rs1234885510 CA384017902	53	N>S		No	ClinGen TOPMed gnomAD
CA6464734 rs140864709	56	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6464733 rs140864709	56	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764467786 CA6464735	57	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	58	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384017939 rs1157198046	58	D>V		No	ClinGen TOPMed
rs1041677561 CA233287779	59	F>I		No	ClinGen Ensembl
rs1447010986	61	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA384017965 rs1365484666	62	Q>K		No	ClinGen gnomAD
rs781661482 CA6464739 COSM317060 CA6464740	63	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6464738 rs757750919	63	M>T		No	ClinGen ExAC gnomAD
CA6464737 rs752130031	63	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6464741 rs754622650	64	L>I		No	ClinGen ExAC gnomAD
rs7304054 CA6464744	65	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs7304054 VAR_030227 CA6464743	65	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA384017986 rs7304054	65	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	66	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA233287808 rs746385907	68	K>*		No	ClinGen gnomAD
CA384018008 rs1315711836	68	K>R		No	ClinGen gnomAD
rs772650643 CA6464745	70	M>I		No	ClinGen ExAC TOPMed gnomAD
CA384018036 rs1285097409	72	S>A		No	ClinGen TOPMed
rs1349677531 CA384018041	73	V>I		No	ClinGen TOPMed
rs772623424 CA6464747	74	V>A		No	ClinGen ExAC TOPMed gnomAD
rs772623424 CA6464746	74	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1565424422 CA384018064	76	A>V		No	ClinGen Ensembl
CA233287841 rs374839029	77	R>G		No	ClinGen ESP TOPMed
rs1023832446 CA233287846	78	H>R		No	ClinGen Ensembl
CA384018119 rs1198207301	84	E>*		No	ClinGen gnomAD
COSM1360425 CA6464749 rs759337298	87	C>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769932023 CA6464750	88	S>F		No	ClinGen ExAC gnomAD
TCGA novel	90	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384018160 rs1368463728	90	V>F		No	ClinGen gnomAD
rs762892734 CA6464752	92	M>I		No	ClinGen ExAC gnomAD
rs1170030624 CA384018175	92	M>R		No	ClinGen gnomAD
CA233287900 rs1003227554	93	A>T		No	ClinGen Ensembl
rs1465401008 CA384018188	94	M>R		No	ClinGen gnomAD
CA233287911 rs1014558334	96	S>C		No	ClinGen Ensembl
CA233287907 rs866273923	96	S>P		No	ClinGen TOPMed gnomAD
CA384018208 rs1296796477	97	V>A		No	ClinGen TOPMed
CA384018206 rs1397652817	97	V>L		No	ClinGen gnomAD
rs1336745165 CA384018211	98	V>F		No	ClinGen gnomAD
CA384018242 rs1445670877	102	T>A		No	ClinGen gnomAD
CA6464755 CA384018252 rs7307438 VAR_030228	103	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
CA384018250 rs1271750602	103	N>S		No	ClinGen gnomAD
CA384018254 rs1217767333	104	V>I		No	ClinGen gnomAD
CA6464756 rs571394631	105	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1421800258 CA384018262	105	E>V		No	ClinGen TOPMed
rs750752884 CA6464757	107	L>V		No	ClinGen ExAC TOPMed gnomAD
CA384018300 rs1354676186	110	S>L		No	ClinGen gnomAD
rs756579341 CA6464758	110	S>P		No	ClinGen ExAC gnomAD
CA6464760 rs141330162	111	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs746562227 CA6464763	114	V>I		No	ClinGen ExAC gnomAD
COSM1135339 CA384018339 rs1421023100	116	K>R	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6464764 rs770794823	117	S>N		No	ClinGen ExAC TOPMed gnomAD
CA384018362 rs986288019	119	H>Q		No	ClinGen Ensembl
CA233287981 rs911982779	120	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6464769 rs763200769	123	I>V		No	ClinGen ExAC gnomAD
rs768826895 CA6464770	124	I>V		No	ClinGen ExAC TOPMed
rs1459439579 CA384018398	125	S>F		No	ClinGen TOPMed gnomAD
CA6464771 rs774432034	126	V>A		No	ClinGen ExAC TOPMed gnomAD
rs369425028 CA384018404	127	L>I		No	ClinGen ExAC gnomAD
CA6464772 rs369425028	127	L>V		No	ClinGen ExAC gnomAD
CA384018420 rs1347644902	129	S>T		No	ClinGen gnomAD
rs1197327914 CA384018429	130	S>N		No	ClinGen gnomAD
CA233288015 rs922457354	132	I>V		No	ClinGen TOPMed gnomAD
CA6464773 rs768098281	133	L>H		No	ClinGen ExAC TOPMed
CA384018450 rs768098281	133	L>P		No	ClinGen ExAC TOPMed
CA6464774 rs750990974	136	L>P		No	ClinGen ExAC gnomAD
CA6464775 rs761317402	137	E>A		No	ClinGen ExAC gnomAD
rs1285653417 CA384018486	139	S>C		No	ClinGen TOPMed gnomAD
CA6464778 rs758059685	144	M>I		No	ClinGen ExAC TOPMed gnomAD
rs200311997 CA6464777	144	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1376696078 CA384018528	145	K>N		No	ClinGen gnomAD
CA6464779 rs777301453	145	K>T		No	ClinGen ExAC gnomAD
CA6464780 rs751012976	146	F>S		No	ClinGen ExAC TOPMed gnomAD
CA233288043 rs944755501	148	I>V		No	ClinGen gnomAD
rs781055318 CA6464782	149	M>I		No	ClinGen ExAC gnomAD
rs977401587 CA233288047	149	M>V		No	ClinGen Ensembl
rs745781749 CA6464783	150	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	150	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384018584 rs1387113812	154	S>G		No	ClinGen gnomAD
TCGA novel	156	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329556129 CA384018655	159	E>A		No	ClinGen gnomAD
CA384018662 rs1187787784	160	D>H		No	ClinGen gnomAD
CA384018680 rs779892818	161	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6464785 rs779892818	161	T>S		No	ClinGen ExAC TOPMed gnomAD
CA384018700 rs1215041830	163	E>Q		No	ClinGen gnomAD
rs1181038454 CA384018723	164	Q>H		No	ClinGen TOPMed
rs749093860 CA6464786	165	S>*		No	ClinGen ExAC TOPMed gnomAD
rs749093860 CA6464787	165	S>L		No	ClinGen ExAC TOPMed gnomAD
rs554616913 CA233288122	166	D>E		No	ClinGen 1000Genomes gnomAD
CA6464789 rs367639650	166	D>G		No	ClinGen ESP ExAC gnomAD
rs774470193 CA6464788	166	D>N		No	ClinGen ExAC gnomAD
CA6464790 rs367639650	166	D>V		No	ClinGen ESP ExAC gnomAD
CA384018748 rs1471608198	167	V>F		No	ClinGen gnomAD
rs773469623 CA6464791	168	T>P		No	ClinGen ExAC gnomAD
rs149459242 CA6464792	169	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA233288130 rs1054111585	176	P>R		No	ClinGen TOPMed
rs566135792 CA233288139	177	P>S		No	ClinGen Ensembl
rs1592244856 CA384018874	178	G>V		No	ClinGen Ensembl
CA6464795 rs777000037	180	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs759820622 CA6464796	183	T>A		No	ClinGen ExAC TOPMed gnomAD
rs759820622 CA6464797	183	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6464801 rs559396395	184	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs756948634 CA6464800	184	M>K		No	ClinGen ExAC gnomAD
CA384018929 rs202023163	184	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202023163 CA6464799	184	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384018970 rs750001975	187	T>N		No	ClinGen ExAC TOPMed gnomAD
rs750001975 CA6464802	187	T>S		No	ClinGen ExAC TOPMed gnomAD
CA384018989 rs756064497	189	K>*		No	ClinGen ExAC gnomAD
rs756064497 CA6464803	189	K>E		No	ClinGen ExAC gnomAD
CA384018994 rs1322849691	189	K>R		No	ClinGen gnomAD
CA384019001 rs577685882	190	K>*		No	ClinGen 1000Genomes ExAC gnomAD
CA6464804 rs577685882	190	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA384019025 rs1487318742	192	Q>*		No	ClinGen gnomAD
rs1003258582 CA233288217	192	Q>R		No	ClinGen TOPMed gnomAD
CA384019050 rs1315109679	194	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384019048 rs1197223740	194	V>L		No	ClinGen gnomAD
rs202161739 CA6464806	195	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372405746 CA6464808	197	T>S		No	ClinGen ESP ExAC TOPMed
CA6464809 rs563499044	198	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6464810 rs187640321	199	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6464812 rs201379842	200	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773416521 CA6464811	200	S>P		No	ClinGen ExAC
CA6464814 rs777031704	203	P>T		No	ClinGen ExAC gnomAD
CA384019129 rs1399824380	204	T>R		No	ClinGen gnomAD
TCGA novel	205	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765494703 CA6464816	206	S>*		No	ClinGen ExAC TOPMed gnomAD
CA6464815 rs201549281	206	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235869760 CA384019142	207	A>T		No	ClinGen TOPMed
CA384019147 rs1215010009	207	A>V		No	ClinGen TOPMed
CA6464817 rs371170277	208	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA384019175 rs1219836511	212	E>K		No	ClinGen TOPMed
CA233288277 rs964052173	213	Q>K		No	ClinGen TOPMed gnomAD
CA6464819 COSM937571 rs767214530	215	V>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749877072 CA6464820	216	K>E		No	ClinGen ExAC gnomAD
TCGA novel	217	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755611243 CA6464821	218	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1239758897 CA384019218	218	M>T		No	ClinGen TOPMed
CA384019244 rs753698873	222	L>*		No	ClinGen ExAC TOPMed gnomAD
rs753698873 CA6464823	222	L>S		No	ClinGen ExAC TOPMed gnomAD
CA384019254 rs1483553367	223	E>D		No	ClinGen gnomAD
rs1238650898 CA384019248	223	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3954483 rs1238650898 CA384019249	223	E>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6464824 COSM69885 rs754984200	224	I>S	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6464827 rs199753169	227	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199753169 CA384019279	227	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs977514400 CA233288324	228	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770934397 CA6464830	230	K>*		No	ClinGen ExAC gnomAD
TCGA novel	230	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746327168 CA6464832	232	M>T		No	ClinGen ExAC
CA6464833 rs149647403 CA6464834	234	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1456219347 CA384019329	234	M>R		No	ClinGen TOPMed
COSM415933 rs1292831226 CA384019325	234	M>V	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs990136576 CA233288351	236	I>F		No	ClinGen Ensembl
CA384019342 rs1301666013	236	I>T		No	ClinGen gnomAD
CA384019350 rs1592245184	237	S>F		No	ClinGen Ensembl
TCGA novel	237	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384019367 rs1158989206	240	K>*		No	ClinGen TOPMed
TCGA novel	245	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	246	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384019621 rs1364692853	246	K>S		No	ClinGen TOPMed gnomAD
rs1364692853 CA384019622	246	K>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q5U649

No regional properties for Q5U649

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q5U649

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

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q810N5		Uncharacterized protein C12orf60 homolog	Mus musculus (Mouse)	PR
Q4KLZ4		Uncharacterized protein C12orf60 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSSESEKDKE	RLIQAAKMFF	FHVQDLASVI	NTLTELFSRS	MNTQILLMAV	KNNSYIKDFF
70	80	90	100	110	120
EQMLKIFKEM	QSVVDARHDK	IQKESLCSKV	AMAMCSVVQK	STNVEELHQS	AKEVFKSAHT
130	140	150	160	170	180
PVIISVLNSS	NILGSLESSL	SHLMKFPIMN	LQLSDFYTED	TKEQSDVTTS	ERTRSPPGSS
190	200	210	220	230	240
KTTMIDTLKK	LQDVLKTEDS	KNPTKSAADL	LEQIVKAMGP	ILEILQKAIK	TMEMNISVFK

KASDK