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    XPA XPA, DNA damage recognition and repair factor [ Homo sapiens (human) ]

    Gene ID: 7507, updated on 20-Apr-2017
    Official Symbol
    XPAprovided by HGNC
    Official Full Name
    XPA, DNA damage recognition and repair factorprovided by HGNC
    Primary source
    HGNC:HGNC:12814
    See related
    Ensembl:ENSG00000136936 MIM:611153; Vega:OTTHUMG00000020330
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XP1; XPAC
    Summary
    This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
    Orthologs
    Location:
    9q22.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (97654398..97697409, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100437191..100459691, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene tropomodulin 1 Neighboring gene thiosulfate sulfurtransferase like domain containing 2 Neighboring gene uncharacterized LOC105376171 Neighboring gene nuclear cap binding protein subunit 1 Neighboring gene keratin 18 pseudogene 13 Neighboring gene forkhead box E1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Xeroderma pigmentosum, type 1
    MedGen: C0268135 OMIM: 278700 GeneReviews: Xeroderma Pigmentosum
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.
    NHGRI GWA Catalog
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
      Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
    • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
      Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
    • Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
      Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
    • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
      Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
    • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    UV protection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    UV protection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    UV-damage excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    base-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    global genome nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide-excision repair involved in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleotide-excision repair, DNA damage recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleotide-excision repair, DNA duplex unwinding TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair, DNA incision TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 3'-to lesion TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 5'-to lesion TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, preincision complex assembly TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, preincision complex stabilization TAS
    Traceable Author Statement
    more info
     
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to auditory stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    colocalizes_with DNA replication factor A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair factor 1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA repair protein complementing XP-A cells
    Names
    excision repair-controlling
    mutant xeroderma pigmentosum complementation group A
    xeroderma pigmentosum group A-complementing protein
    xeroderma pigmentosum, complementation group A

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011642.1 RefSeqGene

      Range
      5001..27501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_471

    mRNA and Protein(s)

    1. NM_000380.3NP_000371.1  DNA repair protein complementing XP-A cells

      See identical proteins and their annotated locations for NP_000371.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      BC014965, CB155090
      Consensus CDS
      CCDS6729.1
      UniProtKB/Swiss-Prot
      P23025
      Related
      ENSP00000364270.4, OTTHUMP00000021751, ENST00000375128.4, OTTHUMT00000053332
      Conserved Domains (3) summary
      TIGR00598
      Location:105273
      rad14; DNA repair protein
      pfam01286
      Location:104133
      XPA_N; XPA protein N-terminal
      pfam05181
      Location:135186
      XPA_C; XPA protein C-terminus

    RNA

    1. NR_027302.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the CDS, which includes an upstream stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate, so is unlikely to make a functional protein.
      Source sequence(s)
      AI961077, AL531629, BC014965, CB155090
      Related
      ENST00000462523.5, OTTHUMT00000053334

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      97654398..97697409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717278.1XP_006717341.1  DNA repair protein complementing XP-A cells isoform X1

      Conserved Domains (3) summary
      TIGR00598
      Location:105257
      rad14; DNA repair protein
      pfam01286
      Location:104133
      XPA_N; XPA protein N-terminal
      pfam05181
      Location:135186
      XPA_C; XPA protein C-terminus
    2. XM_017015114.1XP_016870603.1  DNA repair protein complementing XP-A cells isoform X2

    RNA

    1. XR_929839.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      100583626..100606139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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