AiPD: Autoinhibited Protein Database

P23025

Gene name	XPA (XPAC)
Protein name	DNA repair protein complementing XP-A cells
Names	Xeroderma pigmentosum group A-complementing protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7507
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

200-273 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

200-273 (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

12 structures for P23025

Entry ID	Method	Resolution	Chain	Position	Source
1D4U	NMR	-	A	98-208	PDB
1XPA	NMR	-	A	98-219	PDB
2JNW	NMR	-	B	67-80	PDB
6J44	X-ray	206 A	A	98-239	PDB
6LAE	X-ray	281 A	A/B	98-239	PDB
6RO4	EM	350 A	G	1-273	PDB
7AD8	EM	350 A	G	1-273	PDB
8EBT	EM	390 A	K	102-273	PDB
8EBU	EM	330 A	K	1-273	PDB
8EBX	EM	360 A	K	1-273	PDB
8EBY	EM	360 A	K	1-273	PDB
AF-P23025-F1	Predicted				AlphaFoldDB

288 variants for P23025

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1554703183 RCV000672862	1	M>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1253496792 RCV000666994	1	M>T	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000809436 RCV000666403 rs779161471	4	A>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000671878 rs755109935	5	D>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs574504791 RCV001168275 RCV002558662 CA5148942	5	D>Y	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs756527969 CA5148927 RCV001168274	16	Q>R	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000671795 rs1554702629	66	P>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000671257 CA374188116 rs1554702608	79	E>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554702607 RCV000670368	83	E>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000670938 rs3176652	83	E>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
VAR_007727	94	P>L	XP-A [UniProt]	Yes	UniProt
rs10983315 CA5148848 RCV000903901 VAR_037907 RCV001168273	97	V>I	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000001048 rs104894131 CA251648 VAR_007728	108	C>F	Xeroderma pigmentosum group A XP-A; severe form [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000672811 rs104894131 RCV000492893 CA374187825	108	C>Y	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM1103053 RCV000674100 RCV001230906 RCV001194216 rs769255883 CA5148841	111	E>*	endometrium Xeroderma pigmentosum Xeroderma pigmentosum group A [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs886039226 CA10587998 RCV000254511	112	F>S	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001855507 RCV000668826 rs748286715	113	M>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000672670 rs1554701942	115	S>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs104894134 CA251656 RCV000001052	116	Y>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1200172747 RCV000001049 RCV000780797 RCV001057886	117	L>missing	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV001172312 rs1828818571	125	T>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV002256462 rs1451780491 RCV000668799 CA374187695	126	C>W	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_007729 rs1324310300 RCV000666137 CA374187668	130	R>K	Xeroderma pigmentosum group A XP-A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000673546 rs1554701563	131	D>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000674693 rs1554701553	134	D>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1554701540 RCV002255500 RCV001861798 RCV000670791	143	E>missing	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1564045331 RCV000754105	146	Q>H	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1554701535 RCV000666912	147	E>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000669539 rs1554701532 CA374187512	151	K>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs983722547 RCV001168272 CA374187511	151	K>R	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000670444 rs1240801740 RCV001385775	153	C>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1554701520 RCV000670758	158	R>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000671391 rs781195170	159	E>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1828743987 RCV001166528	165	I>T	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1326841833 RCV000673845	178	M>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000170428 rs786205205	182	L>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs1554701488 RCV000665796	183	K>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV001172311 RCV001386670 rs1828741490	185	Q>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000665444 RCV001174635 VAR_007730 rs746617574 CA196751062 RCV001855442	185	Q>H	Xeroderma pigmentosum Xeroderma pigmentosum group A XP-A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1554701152 RCV000674742	188	K>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000907023 RCV000122317 RCV002256080 RCV000284878 CA162835 rs555812588	190	S>A	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1554701144 RCV000671796	191	L>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs562768588 RCV000122316 CA162832 RCV000930543 RCV000665704	191	L>V	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA374187069 rs755803064 RCV000674552	200	L>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000670857 rs1554701135	200	L>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000672325 rs1554701139	201	E>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs104894133 CA251653 RCV001420782 RCV000001051 RCV000657642	207	R>*	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1554701129 RCV000670038	211	R>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000781923 RCV000666956 CA5148774 RCV001045901 rs149226993	211	R>*	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs764582394 RCV000674093 RCV001868278	216	Q>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000669338 RCV003140064 rs761978351 RCV001855518 CA5148772	216	Q>*	Xeroderma pigmentosum group A Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002265751 RCV000415712 rs1057519018 RCV001865309	217	K>missing	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV001230774 RCV000668902 RCV000781922 rs1554701103	223	V>missing	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000670364 rs1554699334 RCV001035389 CA374185561	226	L>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104894132 RCV000781924 CA251650 RCV000815514 RCV000001050	228	R>*	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_014799 RCV002260991 RCV000665473 CA162847 RCV002257444 RCV000122321 rs1805160	228	R>Q	Xeroderma pigmentosum Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000671297 rs1554699326	231	R>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
VAR_029325 RCV000906725 RCV002258035 rs3176749 CA5148700	234	V>L	Xeroderma pigmentosum [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000668335 rs144725456 CA5148691 RCV003114519 VAR_007731	244	H>R	Xeroderma pigmentosum group A XP-A; mild form [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000667814 RCV001388621 rs1554699296	245	E>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
VAR_020324 RCV000860760 RCV000319809 rs3176750 RCV000122319 CA162841	252	L>V	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758358436 RCV000668503	253	E>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000861170 VAR_061987 RCV000122318 RCV000260012 CA162838 rs57519506	256	M>V	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000667095 rs778543124 RCV001291566	258	R>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs188860873 RCV001166527 RCV000122320 CA162844	258	R>C	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002532160 rs752573039 RCV000674229	259	K>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000674574 rs1554699256	269	T>*	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
RCV000674725 RCV002265856 rs754458042	273	M>missing	Xeroderma pigmentosum group A [ClinVar]	Yes	ClinVar dbSNP
rs760890900 CA5148948	2	A>V		No	ClinGen ExAC gnomAD
CA374188656 rs1564052844	3	A>S		No	ClinGen Ensembl
rs1440375480 CA374188653	3	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs973122222 CA5148944	4	A>V		No	ClinGen TOPMed
CA196755229 rs905489379	5	D>A		No	ClinGen TOPMed gnomAD
rs553043532 CA5148941 CA374188644	5	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5148943 rs574504791	5	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374188645 rs905489379	5	D>V		No	ClinGen TOPMed gnomAD
CA5148940 CA374188643 rs200218050	6	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200218050 COSM752344 CA374188642	6	G>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374188635 rs1228453951	7	A>G		No	ClinGen TOPMed
rs776601238 CA374188637	7	A>S		No	ClinGen ExAC TOPMed gnomAD
rs776601238 CA5148938	7	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1276237668 CA374188629	8	L>W		No	ClinGen TOPMed
rs746677235 CA5148937	9	P>A		No	ClinGen ExAC TOPMed gnomAD
rs779912540 CA5148935	9	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746677235 CA5148936	9	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1432674891 CA374188620	10	E>D		No	ClinGen gnomAD
rs755452842 CA5148933	10	E>G		No	ClinGen ExAC TOPMed
rs771752416 CA196755213 COSM3779465	10	E>K	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5148934 rs771752416	10	E>Q		No	ClinGen ExAC gnomAD
rs1326902057 CA374188618	11	A>P		No	ClinGen gnomAD
rs754275652 CA5148930	13	A>P		No	ClinGen ExAC gnomAD
CA5148929 rs778123456	13	A>V		No	ClinGen ExAC gnomAD
CA374188550 rs1453891229	21	P>L		No	ClinGen gnomAD
rs1179193179 CA374188540	23	S>*		No	ClinGen TOPMed gnomAD
CA374188538 rs1179193179	23	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA374188542 rs1213814173	23	S>P		No	ClinGen TOPMed gnomAD
CA5148923 rs199616261	24	V>E		No	ClinGen 1000Genomes ExAC gnomAD
CA374188529 rs1033405989	25	R>L		No	ClinGen TOPMed gnomAD
CA374188530 rs1033405989	25	R>P		No	ClinGen TOPMed gnomAD
CA196755180 rs1033405989	25	R>Q		No	ClinGen TOPMed gnomAD
rs766444854 CA5148922	26	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1274100357 CA374188522	27	S>G		No	ClinGen gnomAD
rs776656098 CA5148920	28	I>F		No	ClinGen ExAC gnomAD
CA374188511 rs1373166407	28	I>M		No	ClinGen gnomAD
CA196755170 rs953257350	28	I>N		No	ClinGen TOPMed
rs1318340274 CA374188505	29	E>D		No	ClinGen TOPMed
CA5148919 rs768702767	29	E>G		No	ClinGen ExAC gnomAD
CA5148918 rs760613920	30	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA196755166 rs777449731	30	R>W		No	ClinGen Ensembl
rs1424881212 CA374188478	34	R>W		No	ClinGen gnomAD
CA374188460 rs1479271208	37	M>K		No	ClinGen gnomAD
CA374188450 rs1435795217	38	L>P		No	ClinGen TOPMed
CA374188447 rs1297020806	39	R>C		No	ClinGen TOPMed
CA374188445 rs1328849329	39	R>P		No	ClinGen TOPMed
CA5148912 rs778289269	41	A>V		No	ClinGen ExAC TOPMed gnomAD
rs905874399 CA196755153	42	R>G		No	ClinGen TOPMed gnomAD
CA374188410 rs1438104861	45	A>D		No	ClinGen TOPMed gnomAD
rs1346748246 CA374188415	45	A>T		No	ClinGen TOPMed
CA374188412 rs1438104861	45	A>V		No	ClinGen TOPMed gnomAD
CA374188405 rs1217308115	46	R>L		No	ClinGen TOPMed gnomAD
CA374188408 rs1277630830	46	R>W		No	ClinGen gnomAD
rs770415986 CA5148910	48	Y>N		No	ClinGen ExAC gnomAD
rs1374751849 CA374188388	49	S>W		No	ClinGen gnomAD
CA374188385 rs1300025362	50	A>T		No	ClinGen TOPMed gnomAD
rs1443173071 CA374188380	50	A>V		No	ClinGen gnomAD
rs778315426 CA5148908	51	T>R		No	ClinGen ExAC gnomAD
CA374188369 rs1205446893	52	A>V		No	ClinGen gnomAD
rs1044632915 CA196755135	54	A>E		No	ClinGen Ensembl
rs756578830 CA5148907	54	A>T		No	ClinGen ExAC gnomAD
CA5148906 rs577348290	55	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs781569303 CA5148905	56	T>I		No	ClinGen ExAC gnomAD
rs558921404 CA5148904	57	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA196755128 rs950281583	57	G>V		No	ClinGen Ensembl
rs1365252970 CA374188315	58	G>D		No	ClinGen gnomAD
CA374188311 rs1459118524	59	M>V		No	ClinGen TOPMed
rs1185357926 CA374188287	61	N>S		No	ClinGen gnomAD
rs1476014427 CA374188278	62	V>I		No	ClinGen gnomAD
CA374188276 rs1476014427	62	V>L		No	ClinGen gnomAD
rs1487243894 COSM1464333 CA374188250	65	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA374188245 rs1262442661	65	A>V		No	ClinGen gnomAD
CA5148885 rs767594576	67	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	67	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321202142 CA374188227	67	K>R		No	ClinGen gnomAD
CA5148884 rs368468515	68	I>T		No	ClinGen ESP ExAC gnomAD
rs755315448 CA5148882	69	I>S		No	ClinGen ExAC TOPMed gnomAD
rs755315448 CA5148883	69	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1235353864 CA374188211	69	I>V		No	ClinGen gnomAD
CA374188191 rs747326646	71	T>I		No	ClinGen ExAC gnomAD
rs747326646 CA5148881	71	T>R		No	ClinGen ExAC gnomAD
rs780390664 CA5148880	74	G>S		No	ClinGen ExAC gnomAD
CA374188160 rs1364642460	75	F>L		No	ClinGen gnomAD
CA5148879 rs758663470	75	F>L		No	ClinGen ExAC gnomAD
rs1564050421 CA374188149	76	I>V		No	ClinGen Ensembl
VAR_014203	78	E>del		No	UniProt
TCGA novel	81	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374188046 rs1331929521	84	E>Q		No	ClinGen TOPMed
rs765361885 CA5148877	85	Q>E		No	ClinGen ExAC TOPMed
RCV000627517 rs759052378	90	V>missing		No	ClinVar dbSNP
rs752620949 CA5148872	92	H>Y		No	ClinGen ExAC gnomAD
CA374187917 rs1371674347	95	G>E		No	ClinGen TOPMed
CA196752114 rs573834910	96	P>A		No	ClinGen Ensembl
rs1339290732 CA374187902	98	M>L		No	ClinGen TOPMed
RCV001056571 rs773683921	101	D>*		No	ClinVar dbSNP
COSM3663964 CA5148847 rs199710643	102	Y>*	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA374187847 rs1286103706	105	C>Y		No	ClinGen TOPMed
COSM1103054 CA5148844 rs372447411	106	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5148843 rs772081070	107	E>*		No	ClinGen ExAC
CA5148842 rs761457416	109	G>E		No	ClinGen ExAC gnomAD
CA374187819 rs1398242554	109	G>R		No	ClinGen gnomAD
TCGA novel	110	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769255883 CA5148840	111	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769255883 CA374187808	111	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554701945 RCV000627518	114	D>missing		No	ClinVar dbSNP
CA374187781 rs1442427159	114	D>G		No	ClinGen TOPMed
TCGA novel	115	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5148838 rs761039123	117	L>F		No	ClinGen ExAC gnomAD
rs1179813520 CA374187761	117	L>P		No	ClinGen gnomAD
CA196752020 rs574811302	118	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5148837 rs574811302	118	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374187729 rs1484904169	121	F>L		No	ClinGen gnomAD
rs778804405 RCV001233440	123	L>missing		No	ClinVar dbSNP
CA5148835 rs772505668	125	T>A		No	ClinGen ExAC gnomAD
CA374187698 rs1391151865	126	C>S		No	ClinGen TOPMed
CA374187641 rs1202783088	132	A>D		No	ClinGen gnomAD
CA196751135 rs868774407	133	D>Y		No	ClinGen Ensembl
CA5148821 rs370356656	135	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1017882001 CA196751127	136	H>Q		No	ClinGen TOPMed
CA374187613 rs1190907838	136	H>R		No	ClinGen gnomAD
rs1587746283 CA374187578	141	K>R		No	ClinGen Ensembl
CA196751124 rs946369121	143	E>K		No	ClinGen Ensembl
COSM3835251 CA374187547 rs1383912514	146	Q>K	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5148818 rs376040996	147	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA374187528 rs1564045317	148	Y>C		No	ClinGen Ensembl
CA5148817 rs776195320	149	L>F		No	ClinGen ExAC gnomAD
rs983722547 CA196751106	151	K>T		No	ClinGen TOPMed gnomAD
CA196751102 rs960930704	152	D>A		No	ClinGen Ensembl
CA589582426 rs1240801740	153	C>*		No	ClinGen gnomAD
CA374187492 rs1477700804	154	D>H		No	ClinGen gnomAD
CA5148815 rs760018840	155	L>I		No	ClinGen ExAC gnomAD
rs774834822 CA5148814	156	E>K		No	ClinGen ExAC gnomAD
rs1261771356 CA374187461	158	R>K		No	ClinGen gnomAD
CA196751095 rs952399931	158	R>S		No	ClinGen TOPMed
CA374187457 rs1212552454	159	E>K		No	ClinGen gnomAD
CA374187448 rs1394339130	160	P>S		No	ClinGen Ensembl
rs1332168699 CA374187441	161	P>S		No	ClinGen gnomAD
CA5148812 rs771202854	162	L>P		No	ClinGen ExAC gnomAD
CA374187422 rs1338492382	164	F>V		No	ClinGen gnomAD
rs143374902 CA162829 RCV000861251 RCV000122315	166	V>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5148809 rs748215619	170	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1362296585 CA374187373	171	H>Y		No	ClinGen TOPMed
TCGA novel	172	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780036821 CA5148808	176	G>S		No	ClinGen ExAC gnomAD
rs757098056 RCV001310666	183	K>*		No	ClinVar dbSNP
CA5148804 rs778524392	185	Q>R		No	ClinGen ExAC gnomAD
rs745769173 CA5148783	186	I>T		No	ClinGen ExAC gnomAD
rs778776392 CA5148782	187	V>M		No	ClinGen ExAC gnomAD
rs1230851211 CA374187202	189	R>G		No	ClinGen gnomAD
CA374187189 rs555812588	190	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374187130 rs1587744386	195	G>C		No	ClinGen Ensembl
rs1350010010 CA374187103	197	Q>R		No	ClinGen gnomAD
rs755803064 CA5148780	200	L>S		No	ClinGen ExAC gnomAD
TCGA novel	201	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200956475 CA5148779	202	E>A		No	ClinGen ExAC TOPMed gnomAD
CA5148778 rs767096139	202	E>D		No	ClinGen ExAC gnomAD
rs755544946 CA5148777	205	E>G		No	ClinGen ExAC gnomAD
CA5148776 rs751951801	206	V>I		No	ClinGen ExAC gnomAD
rs763295621 COSM1103051 CA5148775	207	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA196750306 rs138259553	211	R>Q		No	ClinGen ESP TOPMed gnomAD
TCGA novel	213	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765427384 CA5148773	213	K>R		No	ClinGen ExAC gnomAD
rs1192803547 CA374186924	214	M>I		No	ClinGen TOPMed
rs975081887 CA196750301	214	M>V		No	ClinGen TOPMed
CA5148770 rs75031098	216	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1256499901 CA374186888	217	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5148769 rs768658649	219	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1001934826 CA196750298	219	F>L		No	ClinGen TOPMed gnomAD
rs768658649 CA374186870	219	F>S		No	ClinGen ExAC TOPMed gnomAD
rs768658649 CA374186871	219	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs573963700 CA5148768	220	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5148767 rs774220091	221	K>*		No	ClinGen ExAC gnomAD
RCV000800535 rs1587744218	222	K>*		No	ClinVar dbSNP
rs1401632522 CA374186817	224	K>E		No	ClinGen TOPMed
CA374185568 rs1156955163	225	E>A		No	ClinGen gnomAD
CA374186806 rs1437665993	225	E>K		No	ClinGen TOPMed
CA5148703 rs756290428	227	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1455500049 CA374185556	227	R>W		No	ClinGen gnomAD
CA196742049 rs997912032	231	R>S		No	ClinGen TOPMed gnomAD
CA5148699 rs3176749 COSM1103049	234	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1170251457 CA374185504	235	W>*		No	ClinGen TOPMed
CA374185511 rs1408543226	235	W>R		No	ClinGen TOPMed
CA374185483 rs1355504770	238	E>G		No	ClinGen TOPMed
rs769468872 COSM1103048 CA5148697	239	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5148694 rs775273880	240	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1564036327 CA374185473	240	I>V		No	ClinGen Ensembl
rs771621320 CA5148693	241	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5148692 rs745428571	242	H>R		No	ClinGen ExAC
rs1295343147 CA374185452	243	Q>P		No	ClinGen TOPMed
TCGA novel	245	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374185436 rs1213747369	245	E>V		No	ClinGen TOPMed
CA5148690 rs771455287	246	Y>C		No	ClinGen ExAC gnomAD
rs749724416 CA5148689	247	G>E		No	ClinGen ExAC gnomAD
rs963248210 CA196741982	247	G>R		No	ClinGen TOPMed gnomAD
rs1389582983 CA374185417	248	P>L		No	ClinGen gnomAD
CA374185409 rs1207866812	249	E>D		No	ClinGen TOPMed
CA374185404 rs1325461880	250	E>G		No	ClinGen gnomAD
rs531005089 CA5148686	253	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs758358436	253	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV000999185 rs1587736013 CA374185387	253	E>Q		No	ClinGen ClinVar Ensembl dbSNP
CA5148681 rs199756325	256	M>I		No	ClinGen ExAC TOPMed gnomAD
CA196741935 rs57519506 CA5148682	256	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196741924 rs889891145	257	Y>*		No	ClinGen gnomAD
CA5148679 rs763929562	258	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374185351 rs763929562	258	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5148680 rs763929562	258	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5148676 rs200584154	259	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5148674 rs759147018	260	T>A		No	ClinGen ExAC gnomAD
CA5148675 rs759147018	260	T>P		No	ClinGen ExAC gnomAD
CA466174798 rs1564036110	261	C>P		No	ClinGen Ensembl
rs773851403 CA5148673	261	C>R		No	ClinGen ExAC
CA374185337 rs770365855	261	C>S		No	ClinGen ExAC TOPMed gnomAD
rs770365855 CA5148672	261	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA5148669 rs371262559	263	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA374185308 rs1302816633	265	G>D		No	ClinGen gnomAD
rs1366019521 CA374185311	265	G>S		No	ClinGen gnomAD
rs1438953623 CA374185297	267	E>K		No	ClinGen gnomAD
TCGA novel	272	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374185254 rs1212966213	273	M>L		No	ClinGen TOPMed
CA5148665 rs781364012	274	M>R		No	ClinGen ExAC gnomAD

1 associated diseases with P23025

[MIM: 278700]: Xeroderma pigmentosum complementation group A (XP-A)

An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders. {ECO:0000269|PubMed:10447254, ECO:0000269|PubMed:1339397, ECO:0000269|PubMed:1372103, ECO:0000269|PubMed:8504220, ECO:0000269|PubMed:9671271}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders. {ECO:0000269|PubMed:10447254, ECO:0000269|PubMed:1339397, ECO:0000269|PubMed:1372103, ECO:0000269|PubMed:8504220, ECO:0000269|PubMed:9671271}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P23025

Type	Name	Position	InterPro Accession
conserved_site	Zinc finger, XPA-type, conserved site	104 - 132	IPR022652
domain	XPA, C-terminal	135 - 186	IPR022656
conserved_site	XPA, conserved site	138 - 154	IPR022658

Functions

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

4 GO annotations of cellular component

Name	Definition
intercellular bridge	A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleotide-excision repair factor 1 complex	One of several protein complexes involved in nucleotide-excision repair; possesses DNA damage recognition and endodeoxynuclease activities. In S. cerevisiae, it is composed of Rad1p, Rad10p, and Rad14p; in human the subunits are ERCC4/XPF, ERCC1 and XPA, respectively.
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.

6 GO annotations of molecular function

Name	Definition
damaged DNA binding	Binding to damaged DNA.
metal ion binding	Binding to a metal ion.
nucleic acid binding	Binding to a nucleic acid.
protein domain specific binding	Binding to a specific domain of a protein.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

8 GO annotations of biological process

Name	Definition
base-excision repair	In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase.
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.
nucleotide-excision repair involved in interstrand cross-link repair	Any nucleotide-excision repair that is involved in interstrand cross-link repair.
nucleotide-excision repair, DNA damage recognition	The identification of lesions in DNA, such as pyrimidine-dimers, intrastrand cross-links, and bulky adducts. The wide range of substrate specificity suggests the repair complex recognizes distortions in the DNA helix.
nucleotide-excision repair, DNA incision	A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound.
protein localization to nucleus	A process in which a protein transports or maintains the localization of another protein to the nucleus.
UV protection	Any process in which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV.
UV-damage excision repair	A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs).

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P27089	XPA	DNA repair protein complementing XP-A cells homolog	Gallus gallus (Chicken)	PR
Q64267	Xpa	DNA repair protein complementing XP-A cells homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAADGALPE	AAALEQPAEL	PASVRASIER	KRQRALMLRQ	ARLAARPYSA	TAAAATGGMA
70	80	90	100	110	120
NVKAAPKIID	TGGGFILEEE	EEEEQKIGKV	VHQPGPVMEF	DYVICEECGK	EFMDSYLMNH
130	140	150	160	170	180
FDLPTCDNCR	DADDKHKLIT	KTEAKQEYLL	KDCDLEKREP	PLKFIVKKNP	HHSQWGDMKL
190	200	210	220	230	240
YLKLQIVKRS	LEVWGSQEAL	EEAKEVRQEN	REKMKQKKFD	KKVKELRRAV	RSSVWKRETI
250	260	270
VHQHEYGPEE	NLEDDMYRKT	CTMCGHELTY	EKM