AiPD: Autoinhibited Protein Database

O60870

Gene name	KIN
Protein name	DNA/RNA-binding protein KIN17
Names	Binding to curved DNA, KIN, antigenic determinant of recA protein homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22944
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

122-299 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

122-299 (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

5 structures for O60870

Entry ID	Method	Resolution	Chain	Position	Source
2CKK	X-ray	145 A	A	268-393	PDB
2V1N	NMR	-	A	51-160	PDB
7ABH	EM	450 A	7	1-393	PDB
7ABI	EM	800 A	7	1-393	PDB
AF-O60870-F1	Predicted				AlphaFoldDB

295 variants for O60870

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs75813059 CA375964674 CA5403218	2	G>R		No	ClinGen ExAC TOPMed gnomAD
CA202432659 rs900702629	3	K>E		No	ClinGen TOPMed
rs900216480 CA202432650	5	D>E		No	ClinGen Ensembl
rs386740619 CA202432645	5	D>P		No	ClinGen Ensembl
rs770083886 CA5403216	7	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1173590662 CA375964565	8	T>I		No	ClinGen gnomAD
rs1588492795 CA375964574	8	T>P		No	ClinGen Ensembl
CA375964555 rs1420470418	9	P>S		No	ClinGen gnomAD
rs144539815 CA5403215	10	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA375964528 rs1471576117	10	K>N		No	ClinGen gnomAD
rs758064650 CA5403214	10	K>R		No	ClinGen ExAC TOPMed gnomAD
rs758064650 CA5403213	10	K>T		No	ClinGen ExAC TOPMed gnomAD
CA5403212 rs781362469	12	I>V		No	ClinGen ExAC TOPMed gnomAD
CA375964482 rs1211499824	13	A>S		No	ClinGen gnomAD
CA375964450 rs1254313203	15	R>G		No	ClinGen gnomAD
rs1218264652 CA375964442	15	R>K		No	ClinGen gnomAD
rs766426045 CA202432595	17	K>N		No	ClinGen ExAC gnomAD
CA5403209 rs753753404	17	K>T		No	ClinGen ExAC gnomAD
rs267602587 CA202432590	18	S>F		No	ClinGen Ensembl
rs1294513792 CA375964388	18	S>P		No	ClinGen gnomAD
CA5403205 rs767826253	25	R>C		No	ClinGen ExAC gnomAD
CA5403204 rs762135681	26	W>S		No	ClinGen ExAC gnomAD
CA5403203 rs774292015	28	C>F		No	ClinGen ExAC gnomAD
CA375964242 rs1419741886	30	M>K		No	ClinGen gnomAD
rs1474823769 CA375964231	31	C>F		No	ClinGen gnomAD
rs1430382491 CA375964229	31	C>W		No	ClinGen TOPMed
rs764293669 CA5403202	33	K>E		No	ClinGen ExAC gnomAD
rs138658111 CA5403199	37	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA202430014 rs931036207	40	G>R		No	ClinGen Ensembl
CA375963106 rs1253661916	40	G>V		No	ClinGen gnomAD
CA5403184 rs757408871	42	K>R		No	ClinGen ExAC gnomAD
rs751744621 CA5403183	45	C>G		No	ClinGen ExAC
rs764224607 CA375962970	45	C>S		No	ClinGen ExAC TOPMed gnomAD
CA5403182 rs764224607	45	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA375962924 rs1225768269	47	S>A		No	ClinGen gnomAD
TCGA novel	47	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375962801 rs1326353709	53	Q>H		No	ClinGen gnomAD
CA375962777 rs1273963800	55	L>F		No	ClinGen TOPMed
CA375962678 rs1307042728	63	Q>E		No	ClinGen TOPMed
CA5403180 rs752795151	66	D>G		No	ClinGen ExAC gnomAD
rs1388305846 CA375962570	67	Y>C		No	ClinGen gnomAD
CA375962537 rs1202496108	68	F>C		No	ClinGen TOPMed
rs1299875843 CA375962509	70	E>K		No	ClinGen gnomAD
rs773502551 CA5403153	72	F>L		No	ClinGen ExAC gnomAD
rs138994831 CA5403152	73	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762761840 COSM1506123 CA5403151	73	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	75	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775127489 CA5403150	80	L>V		No	ClinGen ExAC gnomAD
CA202427866 rs968586725	82	R>G		No	ClinGen gnomAD
COSM179955 CA5403149 rs543372718	83	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA202427842 rs897969875	83	R>H		No	ClinGen TOPMed
CA375961358 rs1345714730	85	G>D		No	ClinGen TOPMed
rs767830072 CA5403135	92	N>T		No	ClinGen ExAC gnomAD
CA375961300 rs1335338954	93	I>M		No	ClinGen gnomAD
rs1283691688 CA375961289	95	Y>C		No	ClinGen gnomAD
rs781551176 CA375961273	97	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1271165858 COSM3699939 CA375961277	97	E>K	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs781551176 CA5403133	97	E>V		No	ClinGen ExAC TOPMed gnomAD
rs765010600 CA5403132	102	R>*		No	ClinGen ExAC TOPMed gnomAD
CA375961237 rs1434620378	102	R>Q		No	ClinGen TOPMed gnomAD
rs1446990753 CA375961228	103	E>D		No	ClinGen TOPMed
CA375961235 rs1386959834	103	E>K		No	ClinGen gnomAD
CA375961222 rs1167501165	104	H>L		No	ClinGen gnomAD
rs1214272698 CA375961218	105	I>V		No	ClinGen TOPMed
rs1239622220 CA375961207	106	H>L		No	ClinGen TOPMed
CA375961204 rs1413619072	107	M>V		No	ClinGen gnomAD
rs1471556667 CA375961179	110	T>S		No	ClinGen gnomAD
rs1483769631 CA375961178	110	T>S		No	ClinGen TOPMed
rs1243323638 CA375961174	111	Q>E		No	ClinGen gnomAD
rs1464127560 CA375961163	112	W>*		No	ClinGen gnomAD
CA5403128 rs746981454	114	T>A		No	ClinGen ExAC gnomAD
rs773042925 CA5403127	116	T>S		No	ClinGen ExAC gnomAD
CA375960977 rs1473655058	121	W>*		No	ClinGen TOPMed
rs747939384 CA5403125	122	L>M		No	ClinGen ExAC gnomAD
CA5403124 rs779061286	122	L>Q		No	ClinGen ExAC gnomAD
CA375960941 rs1224802155	123	G>S		No	ClinGen gnomAD
rs146062558 CA5403123	125	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375960854 rs1227983684	126	G>S		No	ClinGen gnomAD
rs1564323695 CA375960611	127	L>S		No	ClinGen Ensembl
rs1368153046 CA375960591	128	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1175182483 CA375960581	129	K>E		No	ClinGen gnomAD
rs749531176 CA5403101	129	K>R		No	ClinGen ExAC gnomAD
TCGA novel	131	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376422622 CA202426883	132	E>K		No	ClinGen ESP TOPMed gnomAD
CA375960529 rs1378421282	133	T>I		No	ClinGen TOPMed gnomAD
rs1260036864 CA375960503	137	W>L		No	ClinGen TOPMed
rs769696555 CA5403099	139	I>S		No	ClinGen ExAC gnomAD
CA375960473 rs1486158464	141	Y>C		No	ClinGen TOPMed
CA375960475 rs1312058523	141	Y>H		No	ClinGen Ensembl
CA375960468 rs1181345536	142	I>V		No	ClinGen TOPMed gnomAD
rs966939177 CA202426874	143	D>H		No	ClinGen TOPMed
CA5403098 rs745992781	146	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA375960437 rs745992781	146	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1159178389 CA375960425	148	T>S		No	ClinGen TOPMed
CA375960416 rs1564323597	149	I>M		No	ClinGen Ensembl
CA202426840 rs1019856324	149	I>V		No	ClinGen TOPMed
rs757887066 CA5403095	150	R>C		No	ClinGen ExAC gnomAD
rs751941059 CA5403094	150	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA202426816 rs751941059	150	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754659747 CA5403092	151	R>Q		No	ClinGen ExAC gnomAD
COSM920600 rs778349410 CA5403093	151	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1358158138 CA375960390	154	E>D		No	ClinGen gnomAD
CA375960395 rs1466252442	154	E>K		No	ClinGen gnomAD
rs141967940 CA5403088	155	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA202426780 rs1037090727	157	K>E		No	ClinGen TOPMed gnomAD
CA375960373 rs1158387568	157	K>R		No	ClinGen gnomAD
rs1222557964 CA375960360	159	K>E		No	ClinGen TOPMed
CA375960357 rs1588484977	159	K>R		No	ClinGen Ensembl
rs1259723412 CA375960333	162	D>G		No	ClinGen gnomAD
CA375960335 rs1471546331	162	D>N		No	ClinGen gnomAD
rs200315206 CA5403086	163	L>P		No	ClinGen 1000Genomes ExAC
CA375960318 rs762812628	164	D>E		No	ClinGen ExAC gnomAD
rs372557040 CA5403084	164	D>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	167	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5403081 rs775536218	168	K>E		No	ClinGen ExAC gnomAD
CA5403080 rs770074660	169	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1564323485 CA375960283	169	T>I		No	ClinGen Ensembl
rs769387138	169	T>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA375960258 rs1337529126	173	I>V		No	ClinGen gnomAD
CA375960247 rs1314270212	174	E>V		No	ClinGen gnomAD
CA5403076 rs771559189	176	Q>*		No	ClinGen ExAC
CA5403075 rs747572646	180	G>D		No	ClinGen ExAC gnomAD
CA202426736 rs3195263	181	L>Q		No	ClinGen Ensembl
CA375960200 rs1436784981	182	E>K		No	ClinGen gnomAD
CA5403074 rs368815639	184	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA202426707 rs947944866	186	Q>E		No	ClinGen Ensembl
rs1308448539 CA375972888	187	E>A		No	ClinGen TOPMed
rs747090014 CA5403057	188	V>F		No	ClinGen ExAC TOPMed gnomAD
rs747090014 CA375972882	188	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5403056 rs773813197	189	P>R		No	ClinGen ExAC TOPMed gnomAD
CA375972855 rs1450342917	190	T>A		No	ClinGen gnomAD
rs35028405 CA202482061	191	F>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5403055 rs772653681	191	F>L		No	ClinGen ExAC gnomAD
CA5403054 rs748432497	192	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5403052 rs755708945	193	E>K		No	ClinGen ExAC gnomAD
CA202482025 rs570532492	199	D>V		No	ClinGen 1000Genomes TOPMed
TCGA novel	201	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA202482015 rs1031084965	202	K>I		No	ClinGen TOPMed
TCGA novel	203	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA202482002 rs997909685	203	V>I		No	ClinGen TOPMed
rs146426920 CA5403036	204	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146426920 CA5403035	204	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375972612 rs1178439555	206	N>K		No	ClinGen TOPMed
rs1471555641 CA375972616	206	N>S		No	ClinGen TOPMed
TCGA novel	207	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278276155 CA375972594	208	S>T		No	ClinGen gnomAD
CA375972581 rs1346623984	209	K>R		No	ClinGen gnomAD
rs749687842 CA5403033	211	A>S		No	ClinGen ExAC TOPMed gnomAD
CA375972565 rs749687842	211	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756954757 CA5403031	212	C>F		No	ClinGen ExAC TOPMed gnomAD
CA5403032 rs371796073	212	C>R		No	ClinGen ESP ExAC gnomAD
CA5403029 rs777405277	214	S>*		No	ClinGen ExAC gnomAD
rs1306202813 CA375972511 COSM1297447	215	S>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs771540340 CA5403028	215	S>M		No	ClinGen ExAC TOPMed gnomAD
CA202481130 rs985122818	216	G>R		No	ClinGen TOPMed
CA5403026 rs752618588	216	G>V		No	ClinGen ExAC gnomAD
CA375972493 rs1564321346	217	A>V		No	ClinGen Ensembl
CA375972478 rs754778457	219	S>A		No	ClinGen ExAC gnomAD
CA5403024 rs754778457	219	S>P		No	ClinGen ExAC gnomAD
CA5403023 rs574697873	221	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5403022 rs766684581	221	K>R		No	ClinGen ExAC gnomAD
rs761907223 CA5403000	224	T>I		No	ClinGen ExAC gnomAD
CA375971457 rs761907223	224	T>S		No	ClinGen ExAC gnomAD
CA5402995 rs201258955	227	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5402996 rs201258955	227	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5402997 rs201258955	227	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375971347 rs1200603185	231	K>E		No	ClinGen TOPMed
COSM1255877 CA202476250 rs976568227	232	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA202476247 rs1031398099	233	I>T		No	ClinGen TOPMed
CA5402990 rs537183117	233	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs768703107 CA5402989	235	S>N		No	ClinGen ExAC gnomAD
rs375024826 CA202476219	240	K>R		No	ClinGen ESP TOPMed gnomAD
rs780146167 CA5402987	241	R>*		No	ClinGen ExAC TOPMed gnomAD
rs755932799 CA5402986	241	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA375971113 rs1295569121	246	Q>*		No	ClinGen gnomAD
CA375971117 rs1295569121	246	Q>K		No	ClinGen gnomAD
rs569891825 CA5402984	246	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375971068 rs1452062421	249	T>A		No	ClinGen gnomAD
CA202476164 rs781650990	249	T>I		No	ClinGen gnomAD
rs1344404432 CA375971046	250	Q>E		No	ClinGen gnomAD
rs1442168090 CA375971027	251	S>A		No	ClinGen TOPMed
rs757464089 CA5402983	251	S>C		No	ClinGen ExAC gnomAD
rs757464089 CA375971020	251	S>F		No	ClinGen ExAC gnomAD
rs1227921882 CA375971010	252	K>N		No	ClinGen gnomAD
CA5402982 rs751656774	253	E>V		No	ClinGen ExAC TOPMed gnomAD
CA5402981 rs764214720	254	K>N		No	ClinGen ExAC TOPMed gnomAD
CA375970908 rs1330958934	260	A>S		No	ClinGen gnomAD
rs765763801 CA5402978	262	D>G		No	ClinGen ExAC gnomAD
rs753132094 CA5402979	262	D>H		No	ClinGen ExAC gnomAD
CA202476119 rs200953489	265	M>L		No	ClinGen ExAC gnomAD
CA5402977 rs200953489	265	M>V		No	ClinGen ExAC gnomAD
rs763861851 CA5402953	267	I>V		No	ClinGen ExAC gnomAD
CA375969598 rs1442245894	268	E>*		No	ClinGen gnomAD
TCGA novel	275	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775184486 CA5402950	275	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759453225 CA5402948	276	R>*		No	ClinGen ExAC TOPMed gnomAD
rs759453225 CA5402949	276	R>G		No	ClinGen ExAC TOPMed gnomAD
rs776641280 CA375969375	276	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776641280 CA5402947	276	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5402946 rs555979267	278	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375969341 rs1304281475	278	D>N		No	ClinGen gnomAD
CA375969297 rs1486608308	279	Y>C		No	ClinGen TOPMed gnomAD
rs1411826803 CA375969284	280	W>R		No	ClinGen TOPMed
rs866754801 CA202473002	282	Q>*		No	ClinGen TOPMed gnomAD
rs866754801 CA202473008	282	Q>K		No	ClinGen TOPMed gnomAD
rs184496860 CA5402945	283	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557034575 CA5402922	286	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA375968877 rs1396565636	286	I>V		No	ClinGen TOPMed
CA375968864 rs1423467054	287	V>L		No	ClinGen gnomAD
rs1383690152 CA375968795	289	I>N		No	ClinGen gnomAD
rs1450536869 CA375968756	290	I>R		No	ClinGen gnomAD
rs761058408 CA5402921	290	I>V		No	ClinGen ExAC gnomAD
rs1053111545 CA202470906	294	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA202470908 rs878969522	294	L>V		No	ClinGen Ensembl
CA375968619 rs1311074395	295	G>E		No	ClinGen Ensembl
rs1454440690 CA375968601	296	E>D		No	ClinGen TOPMed
rs1000173401 CA202470867	296	E>K		No	ClinGen Ensembl
CA5402918 rs768580001	298	Y>C		No	ClinGen ExAC gnomAD
CA5402916 rs142416948	299	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5402917 rs142416948	299	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5402915 rs756688749	301	K>*		No	ClinGen ExAC gnomAD
rs558356048 CA5402914	301	K>R		No	ClinGen ExAC TOPMed gnomAD
rs781729374 CA5402913	302	K>R		No	ClinGen ExAC gnomAD
CA5402912 rs757713279	303	A>G		No	ClinGen ExAC gnomAD
CA5402911 rs374245592	304	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375968315 rs1294523128	304	I>T		No	ClinGen gnomAD
CA375968222 rs1395195056	306	K>M		No	ClinGen gnomAD
CA5402910 rs371102519	306	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291642813 CA375967739	308	V>L		No	ClinGen TOPMed
CA375967690 rs1256331165	309	I>T		No	ClinGen TOPMed gnomAD
CA5402885 rs774243588	310	D>Y		No	ClinGen ExAC gnomAD
CA5402884 rs764222333	311	K>R		No	ClinGen ExAC TOPMed gnomAD
rs943943880 CA202469820	313	T>I		No	ClinGen TOPMed
rs763298952 CA375967545	315	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763298952 CA5402883	315	V>D		No	ClinGen ExAC TOPMed gnomAD
rs911150533 CA202469796	317	K>N		No	ClinGen TOPMed
rs775591297 CA5402882	319	I>T		No	ClinGen ExAC TOPMed gnomAD
rs769931046 CA5402881	320	D>A		No	ClinGen ExAC gnomAD
CA375967354 rs1391798177	321	S>F		No	ClinGen TOPMed
CA5402880 rs745973707	323	D>N		No	ClinGen ExAC gnomAD
CA375967304 rs1336417828	325	L>V		No	ClinGen gnomAD
rs1391553456 CA375967255	329	Q>E		No	ClinGen gnomAD
CA5402878 rs771610300	329	Q>R		No	ClinGen ExAC gnomAD
CA375967234 rs747302138	330	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5402877 rs747302138	330	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5402876 rs778265485	333	E>D		No	ClinGen ExAC gnomAD
rs754573388 CA5402875	334	T>S		No	ClinGen ExAC gnomAD
CA375967126 rs1425139829	336	I>V		No	ClinGen gnomAD
CA375967067 rs1588471958	339	P>L		No	ClinGen Ensembl
CA5402873 rs779713924	339	P>S		No	ClinGen ExAC gnomAD
CA375966705 rs1588470457	341	K>E		No	ClinGen Ensembl
CA375966693 rs1291378859 COSM1349217	342	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1291378859 CA375966695	342	R>K		No	ClinGen gnomAD
CA375966677 rs1244014778	345	V>L		No	ClinGen gnomAD
rs200833960 CA5402853	349	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745379380 CA5402852	355	G>D		No	ClinGen ExAC gnomAD
rs1444046056 CA375966597	355	G>S		No	ClinGen TOPMed
TCGA novel	356	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199577905 CA5402851	356	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375966578 rs1588470417	357	L>I		No	ClinGen Ensembl
rs1438691347 CA375966574	357	L>P		No	ClinGen gnomAD
rs777605827 CA375966523	361	N>I		No	ClinGen ExAC gnomAD
rs777605827 CA5402848	361	N>S		No	ClinGen ExAC gnomAD
CA5402847 rs758159893	362	E>G		No	ClinGen ExAC gnomAD
CA375966485 rs1363614650	364	T>A		No	ClinGen TOPMed
rs190127771 CA202467628	364	T>N		No	ClinGen 1000Genomes gnomAD
TCGA novel	366	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402298418 CA375966443	367	A>T		No	ClinGen TOPMed
CA5402846 rs145413656	367	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5402845 rs765522127	369	I>V		No	ClinGen ExAC TOPMed gnomAD
rs376639368 CA5402843	370	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA375966392 rs1382932085	371	I>V		No	ClinGen TOPMed
rs763344381 CA5402813	374	G>A		No	ClinGen ExAC TOPMed gnomAD
CA375965761 rs764378394	374	G>C		No	ClinGen ExAC TOPMed gnomAD
rs764378394 CA5402814	374	G>R		No	ClinGen ExAC TOPMed gnomAD
rs764378394 CA375965762	374	G>S		No	ClinGen ExAC TOPMed gnomAD
CA375965743 rs1408773633	377	K>Q		No	ClinGen gnomAD
rs746493638 CA375965734	378	G>*		No	ClinGen ExAC gnomAD
rs1468741707 CA375965732	378	G>E		No	ClinGen gnomAD
CA5402810 rs746493638	378	G>R		No	ClinGen ExAC gnomAD
rs772662628 CA5402809	379	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs61752337 CA5402808	379	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200055464 CA5402807	381	V>I		No	ClinGen ExAC gnomAD
rs778997425 CA5402806	383	G>A		No	ClinGen ExAC TOPMed gnomAD
rs778997425 CA375965684	383	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	383	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754780198 CA5402805	386	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA375965659 rs1433540801	386	Y>H		No	ClinGen gnomAD
COSM83991 CA375965649 rs1222864192	387	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1453181684 CA375965617	389	I>M		No	ClinGen gnomAD
CA375965624 rs1316716525	389	I>V		No	ClinGen gnomAD
CA202464574 rs999018937	390	S>C		No	ClinGen TOPMed gnomAD
CA375965614 rs1381745225	390	S>P		No	ClinGen gnomAD
rs999018937 CA202464578	390	S>Y		No	ClinGen TOPMed gnomAD
CA375965565 rs1161956492	394	A>W		No	ClinGen gnomAD

No associated diseases with O60870

3 regional properties for O60870

Type	Name	Position	InterPro Accession
domain	DNA/RNA-binding protein Kin17, WH-like domain	52 - 178	IPR019447
domain	KN17, SH3-like C-terminal domain	276 - 328	IPR041330
domain	Kin17, KOW domain	339 - 392	IPR041995

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	During S phase, strongly associated with the nuclear matrix, and to chromosomal DNA in the presence of DNA damage Also shows cytoplasmic localization in elongated spermatids
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
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.
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.

4 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
double-stranded DNA binding	Binding to double-stranded DNA.
metal ion binding	Binding to a metal ion.
RNA binding	Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name	Definition
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
DNA recombination	Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MGKSDFLTPK	AIANRIKSKG	LQKLRWYCQM	CQKQCRDENG	FKCHCMSESH	QRQLLLASEN
70	80	90	100	110	120
PQQFMDYFSE	EFRNDFLELL	RRRFGTKRVH	NNIVYNEYIS	HREHIHMNAT	QWETLTDFTK
130	140	150	160	170	180
WLGREGLCKV	DETPKGWYIQ	YIDRDPETIR	RQLELEKKKK	QDLDDEEKTA	KFIEEQVRRG
190	200	210	220	230	240
LEGKEQEVPT	FTELSRENDE	EKVTFNLSKG	ACSSSGATSS	KSSTLGPSAL	KTIGSSASVK
250	260	270	280	290	300
RKESSQSSTQ	SKEKKKKKSA	LDEIMEIEEE	KKRTARTDYW	LQPEIIVKII	TKKLGEKYHK
310	320	330	340	350	360
KKAIVKEVID	KYTAVVKMID	SGDKLKLDQT	HLETVIPAPG	KRILVLNGGY	RGNEGTLESI
370	380	390
NEKTFSATIV	IETGPLKGRR	VEGIQYEDIS	KLA