AiPD: Autoinhibited Protein Database

P12956

Gene name	XRCC6 (G22P1)
Protein name	X-ray repair cross-complementing protein 6
Names	5'-deoxyribose-5-phosphate lyase Ku70, 5'-dRP lyase Ku70, 70 kDa subunit of Ku antigen, ATP-dependent DNA helicase 2 subunit 1, ATP-dependent DNA helicase II 70 kDa subunit, CTC box-binding factor 75 kDa subunit, CTC75, CTCBF, DNA repair protein XRCC6, Lupus Ku autoantigen protein p70, Ku70, Thyroid-lupus autoantigen, TLAA, X-ray repair complementing defective repair in Chinese hamster cells 6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2547
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-364 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-364 (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

38 structures for P12956

Entry ID	Method	Resolution	Chain	Position	Source
1JEQ	X-ray	270 A	A	1-609	PDB
1JEY	X-ray	250 A	A	1-609	PDB
1JJR	NMR	-	A	556-609	PDB
3RZX	X-ray	261 A	B	537-558	PDB
5Y3R	EM	660 A	A	34-534	PDB
6ERF	X-ray	301 A	A/C/E/G	1-544	PDB
6ERG	X-ray	290 A	A/D	1-544	PDB
6ERH	X-ray	280 A	A/C	1-544	PDB
6ZHA	EM	391 A	B	1-609	PDB
6ZHE	EM	724 A	B/G	1-609	PDB
7AXZ	EM	320 A	A	1-609	PDB
7K0Y	EM	370 A	B	1-609	PDB
7K1J	EM	390 A	B	1-609	PDB
7K1K	EM	410 A	B	1-609	PDB
7K1N	EM	390 A	B	1-609	PDB
7LSY	EM	840 A	A/J	1-600	PDB
7LT3	EM	460 A	A/J	1-609	PDB
7NFC	EM	414 A	B/G	1-609	PDB
7NFE	EM	429 A	B	1-609	PDB
7SGL	EM	300 A	B	1-609	PDB
7SU3	EM	330 A	B	1-609	PDB
7Z6O	X-ray	370 A	A	1-609	PDB
7Z87	EM	291 A	B	1-609	PDB
7Z88	EM	333 A	B	1-609	PDB
7ZT6	EM	350 A	A	1-609	PDB
7ZVT	EM	274 A	A	1-609	PDB
7ZWA	EM	280 A	A	1-609	PDB
7ZYG	EM	268 A	A	1-609	PDB
8AG4	EM	246 A	A	1-609	PDB
8AG5	EM	347 A	A	1-609	PDB
8ASC	X-ray	295 A	A/E/K/O	1-544	PDB
8BH3	EM	455 A	B/T	1-609	PDB
8BHV	EM	451 A	a/h	1-609	PDB
8BHY	EM	533 A	B/T	1-609	PDB
8BOT	EM	776 A	B/G/T	1-609	PDB
8EZA	EM	439 A	A/J	1-609	PDB
8EZB	EM	890 A	A/J	1-609	PDB
AF-P12956-F1	Predicted				AlphaFoldDB

307 variants for P12956

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA411734658 rs1601521436	4	W>G		No	ClinGen Ensembl
CA411734674 rs1194159758	6	S>P		No	ClinGen TOPMed
CA324609761 rs200736808	7	Y>C		No	ClinGen TOPMed gnomAD
CA10259062 rs547529160	18	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA411734778 rs1601521483	19	E>G		No	ClinGen Ensembl
rs1601521493 CA411734792	21	E>K		No	ClinGen Ensembl
rs769585677 CA10259064	22	E>D		No	ClinGen ExAC gnomAD
TCGA novel	23	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569075524 CA411734817	24	L>F		No	ClinGen Ensembl
CA411734846 rs1181240905	27	S>G		No	ClinGen gnomAD
rs369186241 CA324609813	27	S>N		No	ClinGen ESP TOPMed gnomAD
TCGA novel	27	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369186241 CA411734848	27	S>T		No	ClinGen ESP TOPMed gnomAD
CA639458668 rs1285050452	30	Y>*		No	ClinGen gnomAD
CA10259090 rs774503375	30	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1218396338 CA411735649	36	D>E		No	ClinGen gnomAD
CA324615160 rs920294126	36	D>H		No	ClinGen Ensembl
CA324615164 rs577676183	38	L>F		No	ClinGen Ensembl
CA411735670 rs1309062456	39	I>M		No	ClinGen TOPMed gnomAD
rs1207517177 CA411735675	40	F>C		No	ClinGen gnomAD
rs1296088221	41	L>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs950456250 CA324615169	44	A>V		No	ClinGen TOPMed gnomAD
CA324615173 rs746333795	45	S>A		No	ClinGen Ensembl
rs983186249 CA324615177	46	K>R		No	ClinGen Ensembl
rs745930113 CA10259091	47	A>G		No	ClinGen ExAC gnomAD
rs538300003 CA10259092	50	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1420601304 CA411735757	52	Q>H		No	ClinGen gnomAD
CA10259094 rs761297117	52	Q>K		No	ClinGen ExAC gnomAD
CA411735776 rs1166254574	55	D>H		No	ClinGen gnomAD
CA10259095 rs764318806	56	E>D		No	ClinGen ExAC TOPMed gnomAD
CA411735783 rs1359279263	56	E>K		No	ClinGen TOPMed
CA411735802 rs1424742034	58	T>I		No	ClinGen gnomAD
rs777034808 CA10259096	62	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1204123047 CA411736094	63	S>G		No	ClinGen gnomAD
rs1175785361 CA411736105	64	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1270734225 CA411736109	65	Q>E		No	ClinGen gnomAD
COSM479009 CA411736108 rs1270734225	65	Q>K	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1453586938 CA411737313	66	C>F		No	ClinGen gnomAD
rs1286202577 CA411737316	67	I>F		No	ClinGen gnomAD
CA411737334 rs1429698986	69	S>N		No	ClinGen TOPMed gnomAD
rs5758399 CA324620063	72	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs5758399 CA10259113	72	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs775736811 CA10259114	73	S>R		No	ClinGen ExAC gnomAD
rs1311787643 CA411737381	76	I>V		No	ClinGen TOPMed
rs769178314 CA10259116	77	S>R		No	ClinGen ExAC gnomAD
CA411737411 rs1394023551	80	R>*		No	ClinGen TOPMed
TCGA novel	80	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10259118 rs762229472	83	L>F		No	ClinGen ExAC
CA324620086 CA411737442 rs370335839	85	V>L		No	ClinGen gnomAD
CA411737441 rs370335839	85	V>M		No	ClinGen gnomAD
CA10259119 rs765521252	86	V>A		No	ClinGen ExAC gnomAD
CA411737457 rs1428549240	87	F>L		No	ClinGen TOPMed
rs773949461 CA10259120	87	F>V		No	ClinGen ExAC TOPMed gnomAD
CA10259121 rs755007926	88	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA10259123 rs373148769	91	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs903145339 CA324620110	98	N>T		No	ClinGen TOPMed gnomAD
rs1406490157 CA411737541	99	F>L		No	ClinGen gnomAD
CA324620111 rs999474140	101	N>D		No	ClinGen TOPMed gnomAD
CA411737563 rs1569085375	102	I>M		No	ClinGen Ensembl
rs764078149 CA10259125	102	I>T		No	ClinGen ExAC TOPMed gnomAD
rs757018461 CA10259127	104	V>I		No	ClinGen ExAC TOPMed gnomAD
CA411737588 rs1270879941	106	Q>R		No	ClinGen TOPMed gnomAD
CA324620128 rs11557354	107	E>K		No	ClinGen Ensembl
CA411737603 rs1294103123	108	L>P		No	ClinGen TOPMed
CA324620132 rs960759558	109	D>N		No	ClinGen gnomAD
CA411737606 rs960759558	109	D>Y		No	ClinGen gnomAD
rs1227053698 CA411737621	111	P>A		No	ClinGen gnomAD
TCGA novel	112	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10259147 rs761686722	114	K>N		No	ClinGen ExAC gnomAD
CA324575568 rs931647183	115	R>*		No	ClinGen Ensembl
rs765303000 CA10259148	115	R>Q		No	ClinGen ExAC gnomAD
rs1434877351 CA411731946	120	D>H		No	ClinGen gnomAD
CA411732294 rs1376817859	122	F>L		No	ClinGen gnomAD
CA411732279 rs1196696640	122	F>L		No	ClinGen gnomAD
TCGA novel	124	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1475621651 CA411732349	125	Q>H		No	ClinGen gnomAD
rs914328332 CA324575581	127	G>E		No	ClinGen Ensembl
CA411732379 rs1427902186	128	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	129	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411732393 rs1207901999	130	R>C		No	ClinGen TOPMed
CA10259151 rs780415976	130	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751831387 CA10259152	131	F>C		No	ClinGen ExAC gnomAD
TCGA novel	131	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324575628 rs11557351	132	Q>R		No	ClinGen Ensembl
CA411732428 rs1322178456	133	D>G		No	ClinGen gnomAD
CA324575661 rs11557348	134	M>I		No	ClinGen Ensembl
CA411732441 rs748302771	134	M>L		No	ClinGen ExAC gnomAD
CA10259155 rs748302771	134	M>V		No	ClinGen ExAC gnomAD
CA411732457 rs1299342859	135	M>V		No	ClinGen gnomAD
CA411732483 rs1339715918	136	G>A		No	ClinGen gnomAD
rs368664677 CA10259158	138	G>R		No	ClinGen ESP ExAC gnomAD
rs775066234 CA10259160	141	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA10259161 rs201771953	142	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs775971407 CA10259163	143	L>F		No	ClinGen ExAC gnomAD
rs140162874 CA324575668	145	E>G		No	ClinGen ESP gnomAD
rs1463325354 CA411732555	145	E>K		No	ClinGen TOPMed
rs761432957 CA10259164	146	V>M		No	ClinGen ExAC gnomAD
rs1369088289 CA411732573	148	W>R		No	ClinGen gnomAD
rs903094529 CA324575687	150	C>R		No	ClinGen Ensembl
rs1344187036 CA411732598 COSM1232990	151	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs750448678 CA10259166	157	V>I		No	ClinGen ExAC gnomAD
CA10259167 rs762766085	158	Q>H		No	ClinGen ExAC gnomAD
CA411732655 rs1436272185	159	F>Y		No	ClinGen gnomAD
CA411732667 rs1404122751	161	M>V		No	ClinGen gnomAD
CA10259168 rs766303484	162	S>G		No	ClinGen ExAC gnomAD
CA324575705 rs986593782	162	S>I		No	ClinGen TOPMed
CA411732677 rs986593782	162	S>N		No	ClinGen TOPMed
rs751769011 CA10259169	163	H>R		No	ClinGen ExAC
rs372965250 CA10259170	166	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA411732706 rs1362550653	166	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755798578 CA324575713	166	I>V		No	ClinGen Ensembl
CA411732713 rs1296338943	167	M>T		No	ClinGen TOPMed
CA10259171 rs781528484	171	N>S		No	ClinGen ExAC TOPMed gnomAD
CA10259172 rs752708099	172	E>A		No	ClinGen ExAC gnomAD
CA411732779 rs1601536994	174	N>T		No	ClinGen Ensembl
CA10259174 rs778186685	176	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs577089846 CA10259176	177	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs558810043 CA324575744	177	G>S		No	ClinGen 1000Genomes
CA411732850 rs1414452382	178	N>S		No	ClinGen TOPMed
rs377060517 CA10259177	179	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185595302 CA411732923	182	K>R		No	ClinGen gnomAD
CA324575757 rs200942837	185	R>Q		No	ClinGen TOPMed gnomAD
rs768169162 CA10259179	185	R>W		No	ClinGen ExAC gnomAD
CA10259180 rs776401056	186	A>G		No	ClinGen ExAC gnomAD
CA10259181 rs776401056	186	A>V		No	ClinGen ExAC gnomAD
CA411733004 rs773221766	187	R>G		No	ClinGen ExAC gnomAD
rs1303054561 CA411733023	188	T>A		No	ClinGen gnomAD
CA10259185 rs61754573	191	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61754573 CA10259184	191	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1350598621 CA411733111	193	L>I		No	ClinGen gnomAD
CA411733131 rs1276355929	194	R>*		No	ClinGen TOPMed
rs1266166982 CA411733135	194	R>Q		No	ClinGen gnomAD
rs1483415743 CA411733211	203	M>V		No	ClinGen gnomAD
rs1207467404 CA411733234	206	K>E		No	ClinGen gnomAD
CA411733237 rs1250210587	206	K>R		No	ClinGen gnomAD
rs1192312604 CA411733253	208	P>H		No	ClinGen gnomAD
CA411733250 rs1404927101	208	P>S		No	ClinGen TOPMed
rs780639260 CA10259201	209	G>R		No	ClinGen ExAC gnomAD
CA411733258 rs1431804859	209	G>V		No	ClinGen TOPMed gnomAD
rs747846355 CA10259202	210	G>V		No	ClinGen ExAC gnomAD
CA411733292 COSM4004941 rs1390461982	214	S>F	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1390461982 CA411733290	214	S>Y		No	ClinGen TOPMed gnomAD
CA10259203 rs769393588	215	L>F		No	ClinGen ExAC gnomAD
rs897949939 CA324576519	218	R>G		No	ClinGen Ensembl
CA10259205 rs748860086	219	D>E		No	ClinGen ExAC gnomAD
TCGA novel	219	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	220	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10259207 rs201075469	222	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1365154504 COSM3939661 CA411733356	224	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10259208 rs759188998	225	E>A		No	ClinGen ExAC gnomAD
rs1218488187 CA411733362	225	E>K		No	ClinGen gnomAD
rs775525989 CA10259210	226	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10259209 rs767358697	226	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10259212 rs764339481	228	D>G		No	ClinGen ExAC gnomAD
rs11557355 CA324576534	228	D>Y		No	ClinGen gnomAD
CA324576570 rs997675783	232	H>R		No	ClinGen TOPMed
rs1253724582 CA411733419	233	F>V		No	ClinGen TOPMed
TCGA novel	237	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411733487 rs1365430665	239	L>P		No	ClinGen TOPMed
rs1193473163 CA411733567	244	R>Q		No	ClinGen TOPMed gnomAD
rs1342799546 CA411733599	246	V>F		No	ClinGen TOPMed
rs757383465 CA10259214	247	R>C		No	ClinGen ExAC gnomAD
rs758629534 CA10259217	248	A>D		No	ClinGen ExAC gnomAD
rs750942031 CA10259216	248	A>S		No	ClinGen ExAC TOPMed gnomAD
rs750942031 CA324576624	248	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	263	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411735211 rs1331599994	264	N>K		No	ClinGen gnomAD
CA10259240 rs777502377	264	N>S		No	ClinGen ExAC gnomAD
CA411735209 rs777502377	264	N>T		No	ClinGen ExAC gnomAD
CA10259241 rs753559698	266	D>V		No	ClinGen ExAC gnomAD
CA10259243 rs778516859	267	I>M		No	ClinGen ExAC TOPMed gnomAD
COSM726988 CA10259242 rs369020045	267	I>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA411735229 COSM1632627 rs1283082601	267	I>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1569091454 CA411735245	269	I>M		No	ClinGen Ensembl
rs1162090714 CA411735258	272	G>S		No	ClinGen TOPMed
rs1474598846 CA411735263	272	G>V		No	ClinGen gnomAD
rs62621117 CA411735265	273	I>L		No	ClinGen ExAC TOPMed gnomAD
rs62621117 CA10259246	273	I>V		No	ClinGen ExAC TOPMed gnomAD
CA411735271 rs1601546442	274	Y>H		No	ClinGen Ensembl
CA10259247 rs746801065	283	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776773263 COSM1308222 CA10259249	284	P>S	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1488422006 CA411735344	285	P>A		No	ClinGen TOPMed
TCGA novel	287	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762113155 CA10259250	293	N>S		No	ClinGen ExAC gnomAD
TCGA novel	294	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10259253 rs763005618	301	R>Q		No	ClinGen ExAC gnomAD
rs773323415 CA10259252	301	R>W		No	ClinGen ExAC gnomAD
CA10259254 rs766906979	304	N>S		No	ClinGen ExAC gnomAD
CA411735486 rs1220532835	306	S>I		No	ClinGen gnomAD
CA324583191 rs920055919	307	T>I		No	ClinGen Ensembl
rs576287152 CA10259255	309	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA324583207 rs952979212	310	L>F		No	ClinGen Ensembl
CA10259256 rs759924833	314	S>G		No	ClinGen ExAC TOPMed gnomAD
CA10259259 rs756901999	317	K>R		No	ClinGen ExAC gnomAD
CA10259281 rs750047356	321	I>M		No	ClinGen ExAC gnomAD
rs1324351825 CA411736252	325	R>H		No	ClinGen TOPMed gnomAD
rs1370742072 CA411736275	327	I>V		No	ClinGen gnomAD
CA10259283 rs369839566	334	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs751455021 CA10259284	337	L>V		No	ClinGen ExAC
CA10259285 rs754875330	339	R>Q		No	ClinGen ExAC gnomAD
rs943053443 CA324585261	341	D>Y		No	ClinGen Ensembl
rs781168212 CA10259286	343	P>T		No	ClinGen ExAC gnomAD
CA10259287 rs373568942	346	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs144313964 CA10259290 CA411736730	348	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs777997397 CA411736713	348	M>L		No	ClinGen ExAC gnomAD
rs1451190945 CA411736721	348	M>T		No	ClinGen TOPMed
CA10259289 rs777997397	348	M>V		No	ClinGen ExAC gnomAD
CA10259291 rs771094973	352	P>Q		No	ClinGen ExAC gnomAD
rs1302456390 CA411736881	358	K>R		No	ClinGen TOPMed gnomAD
CA324585282 rs148749706	359	H>Y		No	ClinGen ESP TOPMed gnomAD
TCGA novel	361	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411736968 rs1303560810	364	P>S		No	ClinGen gnomAD
CA411737028 rs761413214	368	V>L		No	ClinGen TOPMed gnomAD
CA324585305 rs761413214	368	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1714429 CA10259297 rs562297881	373	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764939773 CA324585308	373	S>P		No	ClinGen TOPMed
rs1569094194 CA411737134	374	L>P		No	ClinGen Ensembl
rs1163911254 CA411737659	380	T>A		No	ClinGen gnomAD
rs571011219 CA10259328	383	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1411546189 CA411737692	385	L>V		No	ClinGen TOPMed gnomAD
COSM95548 rs1370772338 CA411737702	387	I>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs758500661 CA10259330	387	I>T		No	ClinGen ExAC gnomAD
rs1330453852 CA411737724	390	L>M		No	ClinGen TOPMed gnomAD
CA411737753 rs1350374829	394	V>I		No	ClinGen gnomAD
CA324586692 rs61754571	395	A>T		No	ClinGen Ensembl
CA10259334 rs781757979	402	P>A		No	ClinGen ExAC gnomAD
rs937641717 CA411737819	404	R>K		No	ClinGen TOPMed gnomAD
CA324586714 rs937641717	404	R>M		No	ClinGen TOPMed gnomAD
CA10259335 rs748448265	406	I>M		No	ClinGen ExAC TOPMed gnomAD
rs770840046 CA324586719	412	A>G		No	ClinGen Ensembl
rs75407440 CA324586725	413	L>F		No	ClinGen Ensembl
rs773947446 CA10259337	422	D>E		No	ClinGen ExAC gnomAD
CA411737943 rs1192175214	422	D>N		No	ClinGen gnomAD
rs745552492 CA10259338	425	I>V		No	ClinGen ExAC
rs953734753 CA411737979 CA324586738	427	V>L		No	ClinGen TOPMed
CA411737986 rs1390188802	428	T>I		No	ClinGen gnomAD
CA411737996 COSM726986 rs1168219605	430	P>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA411737997 rs1168219605	430	P>S		No	ClinGen TOPMed gnomAD
rs1213240826 COSM1751896 CA411738288	433	Q>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10259365 rs761869477	441	D>N		No	ClinGen ExAC gnomAD
rs988785854 CA324588568	447	P>L		No	ClinGen Ensembl
CA10259367 rs773117386	447	P>S		No	ClinGen ExAC gnomAD
CA411738423 rs1474738744	452	I>F		No	ClinGen TOPMed gnomAD
CA411738422 rs1474738744	452	I>V		No	ClinGen TOPMed gnomAD
rs541350436 CA10259368	453	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA411738430 rs1409912479	453	M>L		No	ClinGen TOPMed gnomAD
CA411738429 rs1409912479	453	M>V		No	ClinGen TOPMed gnomAD
rs1449664540 CA411738450	456	P>S		No	ClinGen TOPMed
CA411738468 rs1247848455	458	Q>H		No	ClinGen TOPMed
rs1344628680 CA411738479	460	G>D		No	ClinGen gnomAD
rs767619167 CA10259372	465	I>M		No	ClinGen ExAC TOPMed gnomAD
CA10259371 rs754968679	465	I>V		No	ClinGen ExAC gnomAD
rs368079935 CA10259374	466	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10259375 rs759844857	470	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA10259376 COSM3694086 rs749612494	470	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA411738571 rs1334035620	474	R>G		No	ClinGen gnomAD
rs1236067253 CA411738604	476	D>E		No	ClinGen gnomAD
rs1569098339 CA411738634	480	N>S		No	ClinGen Ensembl
COSM1034663 rs1346522683 CA411738644	482	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	482	V>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324589328 rs4084339	486	H>L		No	ClinGen Ensembl
rs754380678 CA10259394	491	E>D		No	ClinGen ExAC gnomAD
rs1202005824 CA411738805	497	L>F		No	ClinGen gnomAD
rs1180876831 CA411738810	498	M>L		No	ClinGen gnomAD
rs757515014 CA10259395	498	M>T		No	ClinGen ExAC gnomAD
rs1001294599 CA324589332	500	P>A		No	ClinGen TOPMed
COSM385169 rs1454837878 CA411738849	500	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA10259396 rs553304643	501	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs553304643 CA411738856	501	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs750789414 CA10259397	502	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA411738870 rs750789414	502	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1168992420 CA411738891	504	V>M		No	ClinGen gnomAD
rs754651274 CA10259399	507	T>I		No	ClinGen ExAC TOPMed gnomAD
CA324591140 rs911441935	513	A>E		No	ClinGen Ensembl
CA10259423 rs61754572	513	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10259424 rs369429364	514	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10259425 rs745597419	516	K>E		No	ClinGen ExAC gnomAD
rs1336667146 CA411739436	518	L>P		No	ClinGen gnomAD
TCGA novel	518	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411739434 rs1293845932	518	L>V		No	ClinGen gnomAD
CA411739441 rs1601559857	519	G>D		No	ClinGen Ensembl
rs1271482191 CA411739448	520	S>F		No	ClinGen gnomAD
rs1231270659 CA411739446	520	S>P		No	ClinGen gnomAD
rs1488250273 CA411739495	527	E>K		No	ClinGen gnomAD
TCGA novel	528	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs968329582 CA324591155	530	Y>H		No	ClinGen Ensembl
rs775639157 CA10259427	531	P>R		No	ClinGen ExAC gnomAD
CA411739534 rs1193885084	533	D>N		No	ClinGen TOPMed
CA324591179 rs1803107	534	Y>F		No	ClinGen Ensembl
TCGA novel	537	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163289632 CA411739585	540	V>L		No	ClinGen gnomAD
CA10259431 rs761852720	541	T>I		No	ClinGen ExAC gnomAD
rs773594748 CA10259433	545	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	550	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411739941 rs1429713148	551	G>R		No	ClinGen TOPMed
rs1259056307 CA411739950	552	S>N		No	ClinGen gnomAD
rs151012067 CA10259456	559	Y>H		No	ClinGen ESP ExAC gnomAD
rs1569101422 CA411740011	561	E>K		No	ClinGen Ensembl
rs1234442646 CA411740116	571	G>A		No	ClinGen TOPMed
CA324592494 rs3179615	583	E>K		No	ClinGen Ensembl
CA10259460 rs753447958	586	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs999945015 CA324592497	587	A>T		No	ClinGen TOPMed
rs538910971 CA411740421 CA10259462	589	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10259468 rs781415973	602	A>S		No	ClinGen ExAC gnomAD
CA10259469 rs576808369	605	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324592526 rs1020933883	608	Q>R		No	ClinGen TOPMed
rs777980914 CA10259471	609	D>G		No	ClinGen ExAC gnomAD

No associated diseases with P12956

5 regional properties for P12956

Type	Name	Position	InterPro Accession
domain	SAP domain	573 - 607	IPR003034
domain	Ku70/Ku80 C-terminal arm	472 - 557	IPR005160
domain	Ku70/Ku80, N-terminal alpha/beta	37 - 255	IPR005161
domain	Ku70/Ku80 beta-barrel domain	265 - 454	IPR006164
domain	Ku70, core domain	254 - 529	IPR047087

Functions

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

16 GO annotations of cellular component

Name	Definition
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
DNA-dependent protein kinase complex	A protein complex that is involved in the repair of DNA double-strand breaks and, in mammals, V(D)J recombination events. It consists of the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) and the DNA end-binding heterodimer Ku.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
Ku70:Ku80 complex	Heterodimeric protein complex composed of a 70 kDa and a 80 kDa subunit, binds DNA through a channel formed by the heterodimer. Functions in DNA double stranded break repair, chromosome maintenance, transcription regulation, V(D)J recombination, and activation of DNA-PK.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nonhomologous end joining complex	A protein complex that plays a role in DNA double-strand break repair via nonhomologous end joining. Such complexes typically contain a specialized DNA ligase (e.g. Lig4 in eukaryotes) and one or more proteins that bind to DNA ends.
nuclear telomere cap complex	A complex of DNA and protein located at the end of a linear chromosome in the nucleus that protects and stabilizes a linear chromosome.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.
protein-DNA complex	A macromolecular complex containing both protein and DNA molecules.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

15 GO annotations of molecular function

Name	Definition
5'-deoxyribose-5-phosphate lyase activity	Catalysis of the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site in DNA where a DNA-(apurinic or apyrimidinic site) lyase has already cleaved the C-O-P bond 3' to the apurinic or apyrimidinic site.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP-dependent activity, acting on DNA	Catalytic activity that acts to modify DNA, driven by ATP hydrolysis.
cyclin binding	Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis.
damaged DNA binding	Binding to damaged DNA.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA helicase activity	Unwinding of a DNA helix, driven by ATP hydrolysis.
double-stranded DNA binding	Binding to double-stranded DNA.
hydrolase activity	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein-containing complex binding	Binding to a macromolecular complex.
RNA binding	Binding to an RNA molecule or a portion thereof.
scaffold protein binding	Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.
telomeric DNA binding	Binding to a telomere, a specific structure at the end of a linear chromosome required for the integrity and maintenance of the end.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

15 GO annotations of biological process

Name	Definition
activation of innate immune response	Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species.
cellular response to gamma radiation	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 gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum.
cellular response to X-ray	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 X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz).
DNA ligation	The re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase.
double-strand break repair via classical nonhomologous end joining	An instance of double-strand break repair via nonhomologous end joining that requires a number of factors important for V(D)J recombination, including the KU70/80 heterodimer (KU), XRCC4, ligase IV, and DNA-PKcs in mammals. It does not produce translocations (as opposed to the alternative nonhomologous end joining).
double-strand break repair via nonhomologous end joining	The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of lymphocyte differentiation	Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
recombinational repair	A DNA repair process that involves the exchange, reciprocal or nonreciprocal, of genetic material between the broken DNA molecule and a homologous DNA region.
regulation of smooth muscle cell proliferation	Any process that modulates the frequency, rate or extent of smooth muscle cell proliferation.
telomere maintenance	Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O93257	XRCC6	X-ray repair cross-complementing protein 5	Gallus gallus (Chicken)	PR
P23475	Xrcc6	X-ray repair cross-complementing protein 6	Mus musculus (Mouse)	PR
Q7F1M0	KU70	ATP-dependent DNA helicase 2 subunit KU70	Oryza sativa subsp japonica (Rice)	PR
Q9FQ08	KU70	ATP-dependent DNA helicase 2 subunit KU70	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSGWESYYKT	EGDEEAEEEQ	EENLEASGDY	KYSGRDSLIF	LVDASKAMFE	SQSEDELTPF
70	80	90	100	110	120
DMSIQCIQSV	YISKIISSDR	DLLAVVFYGT	EKDKNSVNFK	NIYVLQELDN	PGAKRILELD
130	140	150	160	170	180
QFKGQQGQKR	FQDMMGHGSD	YSLSEVLWVC	ANLFSDVQFK	MSHKRIMLFT	NEDNPHGNDS
190	200	210	220	230	240
AKASRARTKA	GDLRDTGIFL	DLMHLKKPGG	FDISLFYRDI	ISIAEDEDLR	VHFEESSKLE
250	260	270	280	290	300
DLLRKVRAKE	TRKRALSRLK	LKLNKDIVIS	VGIYNLVQKA	LKPPPIKLYR	ETNEPVKTKT
310	320	330	340	350	360
RTFNTSTGGL	LLPSDTKRSQ	IYGSRQIILE	KEETEELKRF	DDPGLMLMGF	KPLVLLKKHH
370	380	390	400	410	420
YLRPSLFVYP	EESLVIGSST	LFSALLIKCL	EKEVAALCRY	TPRRNIPPYF	VALVPQEEEL
430	440	450	460	470	480
DDQKIQVTPP	GFQLVFLPFA	DDKRKMPFTE	KIMATPEQVG	KMKAIVEKLR	FTYRSDSFEN
490	500	510	520	530	540
PVLQQHFRNL	EALALDLMEP	EQAVDLTLPK	VEAMNKRLGS	LVDEFKELVY	PPDYNPEGKV
550	560	570	580	590	600
TKRKHDNEGS	GSKRPKVEYS	EEELKTHISK	GTLGKFTVPM	LKEACRAYGL	KSGLKKQELL

EALTKHFQD