Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

XPA

protein_coding 9 97,653,139 - 97,697,408 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000136936

Gene type
protein_coding

Chromosome
9

Coordinates
97,653,139 - 97,697,408

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

7507 CCDS6729 ENST00000375128.5 NM_000380 NM_000380.4 P23025 XP1 XPAC xeroderma pigmentosum, complementation group A

Summary

GENCODE gene_type=protein_coding; HGNC symbol=XPA; HGNC name=XPA; alias_count=10; RefSeq=NM_000380; UniProt=P23025; MANE Select=ENST00000375128.5,NM_000380.4

Source: GENCODE + HGNC complete set

7507 • protein-coding

This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]

NCBI Gene

UniProt

P23025 • reviewed

Involved in DNA nucleotide excision repair (NER). Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation (PubMed:19197159). During NER stimulates the 5'-3' helicase activity of XPD/ERCC2 and the DNA translocase activity of XPB/ERCC3 (PubMed:31253769). Connects XPD/ERCC2 and XPB/ERCC3 during NER, retaining DNA near the XPB/ERCC3 active site, and stabilizing the complex in a different conformation than in transcribing TFIIH (PubMed:31253769)

DNA repair protein complementing XP-A cells · Nucleus

GO annotations

Biological process

GO:0006281 DNA repair (IDA)
GO:0006281 DNA repair (IMP)
GO:0009650 UV protection (IDA)
GO:0009650 UV protection (IMP)
GO:0070914 UV-damage excision repair (IBA)
GO:0006284 base-excision repair (IBA)
GO:0006289 nucleotide-excision repair (IEA)
GO:0006289 nucleotide-excision repair (IEA)
GO:0006289 nucleotide-excision repair (IMP)
GO:1901255 nucleotide-excision repair involved in interstrand cross-link repair (IBA)

+ 2 more

Cellular component

GO:0005662 DNA replication factor A complex (IDA)
GO:0016604 nuclear body (IDA)
GO:0005654 nucleoplasm (IDA)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)

+ 17 more

Molecular function

GO:0003684 damaged DNA binding (IEA)
GO:0003684 damaged DNA binding (TAS)
GO:0003684 damaged DNA binding (IDA)
GO:0003684 damaged DNA binding (IBA)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)
GO:0005515 protein binding (IPI)

+ 38 more

Representative

Representative transcript
ENST00000375128

Representative protein
ENSP00000364270.5

Representative type
CCDS

Candidate count
2

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00001109479	XPA-215	protein_coding	not available	ENSP00000779284.1	9:97,653,139 - 97,697,408 -
ENST00001109480	XPA-216	protein_coding	not available	ENSP00000779285.1	9:97,653,139 - 97,697,408 -
ENST00001109481	XPA-217	protein_coding	not available	ENSP00000779286.1	9:97,653,139 - 97,697,408 -
ENST00000375128	XPA-201	protein_coding	not available	ENSP00000364270.5	9:97,674,909 - 97,697,340 -
ENST00000462523	XPA-202	nonsense_mediated_decay	not available	ENSP00000433006.1	9:97,674,909 - 97,697,293 -
ENST00001133724	XPA-219	protein_coding	not available	ENSP00000810503.1	9:97,674,909 - 97,697,408 -
ENST00000905836	XPA-205	protein_coding	not available	ENSP00000575895.1	9:97,674,910 - 97,697,408 -
ENST00000982569	XPA-208	nonsense_mediated_decay	not available	ENSP00000652386.1	9:97,674,911 - 97,697,329 -
ENST00000982570	XPA-209	nonsense_mediated_decay	not available	ENSP00000652387.1	9:97,674,912 - 97,697,327 -
ENST00000982568	XPA-207	nonsense_mediated_decay	not available	ENSP00000652385.1	9:97,674,915 - 97,697,403 -
ENST00001015652	XPA-211	nonsense_mediated_decay	not available	ENSP00000685469.1	9:97,674,916 - 97,697,326 -
ENST00001015653	XPA-212	nonsense_mediated_decay	not available	ENSP00000685470.1	9:97,674,916 - 97,697,318 -
ENST00001015654	XPA-213	nonsense_mediated_decay	not available	ENSP00000685471.1	9:97,674,919 - 97,697,321 -
ENST00000485042	XPA-203	protein_coding_CDS_not_defined	not available	not available	9:97,675,067 - 97,675,955 -
ENST00001102116	XPA-214	protein_coding	not available	ENSP00000771922.1	9:97,675,349 - 97,697,408 -
ENST00000982571	XPA-210	nonsense_mediated_decay	not available	ENSP00000652388.1	9:97,675,352 - 97,697,340 -
ENST00000905837	XPA-206	protein_coding	not available	ENSP00000575896.1	9:97,675,369 - 97,697,408 -
ENST00000496104	XPA-204	protein_coding_CDS_not_defined	not available	not available	9:97,684,961 - 97,697,295 -
ENST00001121271	XPA-218	nonsense_mediated_decay	not available	ENSP00000791076.1	9:97,684,968 - 97,697,366 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.