AiPD: Autoinhibited Protein Database

Q86WR6

Gene name	C17orf64
Protein name	Uncharacterized protein C17orf64
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:124773
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-106 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-106 (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 Q86WR6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86WR6-F1	Predicted				AlphaFoldDB

217 variants for Q86WR6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA400773185 rs1191898736	2	E>*		No	ClinGen TOPMed
CA400773207 rs1372711933	3	A>V		No	ClinGen TOPMed gnomAD
rs753736037 CA8686862	5	D>E		No	ClinGen ExAC TOPMed gnomAD
CA292696829 rs985273637	6	G>A		No	ClinGen TOPMed gnomAD
rs953439254 CA292696828	6	G>W		No	ClinGen TOPMed
CA400773241 rs1432817224	7	Q>E		No	ClinGen gnomAD
rs1362414773 CA400773263	8	G>V		No	ClinGen gnomAD
rs1383704347 CA400773285	10	E>A		No	ClinGen TOPMed gnomAD
rs779607346 CA8686867	11	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8686871 rs200863948 CA8686870	12	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8686869 rs79813353	12	D>N		No	ClinGen ExAC gnomAD
rs1369072041 CA400773350	15	L>I		No	ClinGen TOPMed
rs1210050849 CA400773354	15	L>P		No	ClinGen gnomAD
rs1429963533 CA400773381	17	Q>R		No	ClinGen TOPMed
rs1177831117 CA400773814	18	V>M		No	ClinGen gnomAD
rs1164361948 CA400773830	19	T>K		No	ClinGen TOPMed
CA8686884 rs750371587	23	C>R		No	ClinGen ExAC gnomAD
rs750371587 CA400773881	23	C>S		No	ClinGen ExAC gnomAD
CA400773884 rs1410979532	23	C>Y		No	ClinGen TOPMed gnomAD
CA292697203 rs1018473051	25	E>V		No	ClinGen TOPMed
CA400773904 rs1327584021	26	T>K		No	ClinGen gnomAD
CA400773908 rs1391790981	27	S>N		No	ClinGen TOPMed gnomAD
rs1435186346 CA400773911	27	S>R		No	ClinGen TOPMed gnomAD
CA400773909 rs1391790981	27	S>T		No	ClinGen TOPMed gnomAD
CA400773920 rs1598333338	29	S>G		No	ClinGen Ensembl
CA8686885 rs372836275	29	S>R		No	ClinGen ExAC gnomAD
CA8686887 rs202020451	30	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA292697204 rs1030544423	30	A>V		No	ClinGen Ensembl
rs757742869 CA292697205	34	R>K		No	ClinGen Ensembl
rs1222567913 CA400773963 CA400773962	35	D>E		No	ClinGen gnomAD
rs754589179 CA8686888	36	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA292697206 rs954849767	38	M>K		No	ClinGen TOPMed
rs954849767 CA400773979	38	M>T		No	ClinGen TOPMed
CA292697207 rs954649959	39	R>C		No	ClinGen TOPMed gnomAD
CA400773984 rs954649959	39	R>G		No	ClinGen TOPMed gnomAD
rs1451275791 CA400773985	39	R>H		No	ClinGen TOPMed gnomAD
CA400773986 rs1451275791	39	R>L		No	ClinGen TOPMed gnomAD
CA400774043 rs1402859766	47	D>E		No	ClinGen TOPMed
rs1020476119 CA292697209	48	T>N		No	ClinGen TOPMed gnomAD
rs1010565001 CA292697210	50	K>*		No	ClinGen TOPMed gnomAD
CA292697235 rs968996691	52	C>Y		No	ClinGen TOPMed gnomAD
CA292697236 rs532612820	55	Y>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs1421198808 CA400774104	55	Y>H		No	ClinGen gnomAD
rs145659794 CA8686896	58	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145659794 CA400774126	58	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400774155 rs551743110	62	F>L		No	ClinGen Ensembl
CA292697242 rs201203253	64	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772362348 CA8686898 COSM2793476	64	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400774179 rs1340311056	66	L>F		No	ClinGen TOPMed gnomAD
rs999877578 CA292697243	67	H>N		No	ClinGen TOPMed
rs1431930587 CA400774186	67	H>Q		No	ClinGen gnomAD
CA400774190 rs1272190968	68	L>P		No	ClinGen gnomAD
CA400774196 rs1360102990	69	P>L		No	ClinGen gnomAD
rs1323079958 CA400774203	70	R>S		No	ClinGen gnomAD
rs1033984387 CA292697244	71	D>N		No	ClinGen TOPMed gnomAD
CA400774217 rs1281164050	72	L>R		No	ClinGen TOPMed gnomAD
CA400774219 rs1350051743	73	P>A		No	ClinGen gnomAD
rs1284031165 CA400774223 COSM1135971	73	P>L	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1350051743 CA400774220	73	P>S		No	ClinGen gnomAD
CA400774225 rs1567907245	74	Q>*		No	ClinGen Ensembl
rs760874803 CA8686901	74	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA400774227 rs941296080	74	Q>P		No	ClinGen TOPMed gnomAD
rs941296080 CA292697245	74	Q>R		No	ClinGen TOPMed gnomAD
CA292697246 rs958446692	75	K>N		No	ClinGen TOPMed
rs146549419 CA8686902	77	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1216201404 CA400774260	79	K>R		No	ClinGen gnomAD
rs1447319435 CA400774271 CA400774272	80	Y>*		No	ClinGen gnomAD
rs1232834976 CA400774270	80	Y>C		No	ClinGen TOPMed gnomAD
CA400774284 rs1187468594	82	K>E		No	ClinGen gnomAD
rs1187468594 CA400774282	82	K>Q		No	ClinGen gnomAD
CA400774292 rs1395173083	83	Q>*		No	ClinGen gnomAD
rs1171411028 CA400774302	84	S>I		No	ClinGen TOPMed gnomAD
rs750236898 CA8686903	85	L>F		No	ClinGen ExAC gnomAD
rs1401704247 CA400774311	86	V>M		No	ClinGen gnomAD
rs1598333850 CA400774321	87	V>A		No	ClinGen Ensembl
CA400774317 rs1320714766	87	V>I		No	ClinGen gnomAD
TCGA novel	89	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8686904 rs555202197	90	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA292697249 rs984175020	90	D>G		No	ClinGen Ensembl
CA292697248 rs565138902	90	D>H		No	ClinGen Ensembl
CA8686905 rs181890967	91	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400774346 rs1244806327	92	I>L		No	ClinGen Ensembl
CA400774361 rs1598333885	94	T>P		No	ClinGen Ensembl
rs1232173222 CA400774386	97	Q>H		No	ClinGen gnomAD
rs1050832950 CA292697250	99	Y>*		No	ClinGen TOPMed
rs1288650442 CA400774409	100	C>*		No	ClinGen gnomAD
CA400774424 rs1489733012	102	A>G		No	ClinGen TOPMed gnomAD
rs1260173974 CA400774419	102	A>T		No	ClinGen TOPMed
CA400774423 rs1489733012	102	A>V		No	ClinGen TOPMed gnomAD
CA400774428 rs1273046095	103	W>*		No	ClinGen gnomAD
rs1598333914 CA400774436	104	E>*		No	ClinGen Ensembl
CA292697251 rs892209606	106	K>E		No	ClinGen TOPMed
CA400774452 rs1205608606	106	K>R		No	ClinGen gnomAD
CA292697252 rs1010401198	107	H>Y		No	ClinGen TOPMed
rs1286090759 CA400774464	108	W>R		No	ClinGen TOPMed gnomAD
rs1463334079 CA400774474	109	R>K		No	ClinGen gnomAD
rs766242804 CA8686922	111	M>I		No	ClinGen ExAC TOPMed gnomAD
rs762682105 CA8686921	111	M>L		No	ClinGen ExAC gnomAD
rs774272052 CA8686923	112	L>F		No	ClinGen ExAC TOPMed gnomAD
CA400774515 rs1293709437	113	W>*		No	ClinGen gnomAD
CA400774518 rs1323216308	113	W>C		No	ClinGen gnomAD
rs759533511 CA8686924	114	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs935939750 CA292697296	114	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400774525 rs1598334291	115	F>V		No	ClinGen Ensembl
CA400774532 rs1598334298	116	I>V		No	ClinGen Ensembl
CA8686927 rs755759396	117	S>C		No	ClinGen ExAC gnomAD
rs894166861 CA292697297	118	L>F		No	ClinGen Ensembl
rs763684116 CA8686928	120	S>A		No	ClinGen ExAC gnomAD
rs372731739 CA8686929	120	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8686932 rs746364850	123	E>*		No	ClinGen ExAC gnomAD
CA8686933 rs759024303	126	Q>K		No	ClinGen ExAC gnomAD
rs1028238174 CA292697299	126	Q>R		No	ClinGen TOPMed
CA8686934 rs780153529	128	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8686935 rs747093678	128	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8686936 rs768877828	129	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776726903 CA400774612	129	R>L		No	ClinGen ExAC gnomAD
rs776726903 CA8686937	129	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1165498733 CA400774615	130	L>F		No	ClinGen TOPMed
CA400774622 rs1381145488	131	Y>F		No	ClinGen gnomAD
CA400774660 rs1326631728	136	S>N		No	ClinGen gnomAD
rs376243760 CA8686941	137	S>R		No	ClinGen ESP ExAC gnomAD
rs1028549273 CA292697301	138	Q>R		No	ClinGen TOPMed gnomAD
rs868758149 CA292697302	139	P>A		No	ClinGen gnomAD
CA8686942 rs560519932	139	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868758149 CA292697303	139	P>S		No	ClinGen gnomAD
rs760125686 CA8686944	141	K>E		No	ClinGen ExAC gnomAD
CA8686945 rs763735613	141	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1262814333 CA400774690	141	K>T		No	ClinGen gnomAD
rs753429551 CA8686946	142	F>C		No	ClinGen ExAC
rs763653945 CA292697305	142	F>L		No	ClinGen Ensembl
CA8686981 rs779956263	144	V>G		No	ClinGen ExAC gnomAD
CA8686980 rs771760090	144	V>M		No	ClinGen ExAC gnomAD
CA400774914 rs746897514	146	F>L		No	ClinGen ExAC gnomAD
rs768677332 CA8686984	147	C>G		No	ClinGen ExAC gnomAD
CA8686983 rs768677332	147	C>R		No	ClinGen ExAC gnomAD
rs769510201 CA8686987	148	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8686986 rs769510201	148	A>T		No	ClinGen ExAC TOPMed gnomAD
CA400774931 rs1408484761	149	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1230302825 CA400774945	151	A>V		No	ClinGen TOPMed gnomAD
CA8686991 rs57928695	152	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400774948 rs1333258221	152	P>S		No	ClinGen gnomAD
rs752725736 CA8686993	153	E>Q		No	ClinGen ExAC gnomAD
rs140000868 CA292697595	154	R>M		No	ClinGen ESP
rs1598336260 CA400774964	155	S>A		No	ClinGen Ensembl
rs756200782 CA8686994	155	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8686996 rs754046740	156	L>F		No	ClinGen ExAC gnomAD
rs201450863 CA8686999	159	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs768426490 CA400774996	160	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8687000 rs768426490	160	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400775002 rs1426418826	161	E>G		No	ClinGen TOPMed
CA292697597 rs944359779	162	D>G		No	ClinGen TOPMed gnomAD
CA8687002 rs747591049	162	D>N		No	ClinGen ExAC gnomAD
rs1352020133 CA400775029	165	P>L		No	ClinGen TOPMed gnomAD
rs1352020133 CA400775028	165	P>R		No	ClinGen TOPMed gnomAD
rs1200441763 CA400775055	169	H>R		No	ClinGen gnomAD
CA8687004 rs200962057	169	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA400775066 rs1450596616	171	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8687008 rs574216649	172	G>A		No	ClinGen ExAC gnomAD
rs574216649 CA292697599	172	G>E		No	ClinGen ExAC gnomAD
CA292697600 rs760760620	174	H>Q		No	ClinGen TOPMed
rs1378750483 CA400775087	174	H>R		No	ClinGen gnomAD
CA292697601 rs370364055	175	S>G		No	ClinGen ESP TOPMed gnomAD
CA400775100 rs1462880494	176	N>S		No	ClinGen gnomAD
CA400775113 rs1299927823	178	S>G		No	ClinGen gnomAD
CA8687010 rs368635684	179	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8687011 rs775980827	180	M>V		No	ClinGen ExAC TOPMed gnomAD
rs761228169 CA8687012	181	K>T		No	ClinGen ExAC TOPMed gnomAD
CA292697602 rs1003725055	182	E>*		No	ClinGen TOPMed
rs1056158164 CA292697603	182	E>G		No	ClinGen Ensembl
CA8687013 rs572279125	183	R>Q		No	ClinGen ExAC gnomAD
CA400775147 COSM1563720 rs1417608936	183	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8687015 rs757380106	185	S>A		No	ClinGen ExAC gnomAD
rs1027739290 CA292697604	186	N>K		No	ClinGen TOPMed gnomAD
rs751251927 CA292697605	188	Q>*		No	ClinGen ExAC gnomAD
CA8687017 rs751251927	188	Q>K		No	ClinGen ExAC gnomAD
CA400775177 rs1567908955	188	Q>R		No	ClinGen Ensembl
rs1598336422 CA400775182	189	T>P		No	ClinGen Ensembl
rs371681055 CA8687018	190	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254833362 CA400775196	191	G>D		No	ClinGen TOPMed
TCGA novel	192	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8687019 rs539594178	194	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1332647455 CA400775227	196	L>M		No	ClinGen gnomAD
rs1332647455 CA400775226	196	L>V		No	ClinGen gnomAD
rs1007801819 CA292697607	199	Q>K		No	ClinGen Ensembl
TCGA novel	199	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189425069 CA400775259	201	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1436108665 CA400775271	203	Q>*		No	ClinGen gnomAD
rs1272236644 CA400775284	204	D>E		No	ClinGen TOPMed
rs1322796589 CA400775280	204	D>G		No	ClinGen gnomAD
rs1363194769 CA400775287	205	H>Y		No	ClinGen gnomAD
CA292697608 rs201950282	209	D>H		No	ClinGen TOPMed gnomAD
CA400775631 COSM3421743 rs1456917549	210	S>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA400775636 rs1163992457	211	L>S		No	ClinGen gnomAD
rs777790196 CA8687045	212	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8687046 rs748690148	214	L>R		No	ClinGen ExAC gnomAD
rs1403672629 CA400775655	214	L>V		No	ClinGen TOPMed gnomAD
CA8687047 rs756797485	215	S>P		No	ClinGen ExAC gnomAD
rs888518494 CA292697816	216	Q>*		No	ClinGen gnomAD
TCGA novel	217	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400775681 rs1237956925	218	P>Q		No	ClinGen gnomAD
CA400775682 rs1237956925	218	P>R		No	ClinGen gnomAD
CA292697817 rs202131111	218	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
rs1357902675 CA400775693	220	L>V		No	ClinGen TOPMed gnomAD
rs771751554 CA8687050	221	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA400775707 rs1037498164	222	R>K		No	ClinGen gnomAD
CA292697818 rs1037498164	222	R>M		No	ClinGen gnomAD
rs747395163 CA8687052	225	I>L		No	ClinGen ExAC TOPMed gnomAD
CA400775729 rs1250080135	225	I>T		No	ClinGen gnomAD
rs1472460407 CA400775748	228	A>T		No	ClinGen gnomAD
rs769091687 CA8687053	228	A>V		No	ClinGen ExAC gnomAD
CA8687054 rs777196412	231	T>I		No	ClinGen ExAC gnomAD
CA292697819 rs756919587	233	E>D		No	ClinGen Ensembl
TCGA novel	234	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400775791 rs1371172838	235	E>K		No	ClinGen gnomAD
CA8687059 rs150310077	236	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370226193 CA8687058	236	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs137972332 CA8687061	237	P>L		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q86WR6

1 regional properties for Q86WR6

Type	Name	Position	InterPro Accession
domain	Chromodomain-helicase-DNA-binding protein 1-like, C-terminal domain	31 - 134	IPR025260

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Located in the cytoplasm of spermatogonia and spermatocytes
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

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32KP7		Uncharacterized protein C17orf64 homolog	Bos taurus (Bovine)	PR
O14646	CHD1	Chromodomain-helicase-DNA-binding protein 1	Homo sapiens (Human)	PR
P40201	Chd1	Chromodomain-helicase-DNA-binding protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEASDGQGGE	GDKPLEQVTN	VSCLETSSSA	SPARDSLMRH	AKGLDQDTFK	TCKEYLRPLK
70	80	90	100	110	120
KFLRKLHLPR	DLPQKKKLKY	MKQSLVVLGD	HINTFLQHYC	QAWEIKHWRK	MLWRFISLFS
130	140	150	160	170	180
ELEAKQLRRL	YKYTKSSQPA	KFLVTFCASD	APERSLLADR	EDSLPKLCHA	WGLHSNISGM
190	200	210	220	230
KERLSNMQTP	GQGSPLPGQP	RSQDHVKKDS	LRELSQKPKL	KRKRIKEAPE	TPETEP