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    XRCC1 X-ray repair cross complementing 1 [ Homo sapiens (human) ]

    Gene ID: 7515, updated on 23-Nov-2021

    Summary

    Official Symbol
    XRCC1provided by HGNC
    Official Full Name
    X-ray repair cross complementing 1provided by HGNC
    Primary source
    HGNC:HGNC:12828
    See related
    Ensembl:ENSG00000073050 MIM:194360
    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
    RCC; SCAR26
    Summary
    The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 16.0), testis (RPKM 12.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See XRCC1 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (43543311..43575527, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44047463..44079679, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ETHE1 persulfide dioxygenase Neighboring gene zinc finger protein 575 Neighboring gene phospholipase A2 inhibitor and LY6/PLAUR domain containing Neighboring gene immunity related GTPase Q

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    GeneReviews: Not available
    Spinocerebellar ataxia, autosomal recessive 26
    MedGen: C4539948 OMIM: 617633 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3' overhang single-stranded DNA endodeoxyribonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables oxidized DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in base-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cerebellum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via nonhomologous end joining IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protection from non-homologous end joining at telomere IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein ADP-ribosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of single strand break repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of single strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in replication-born double-strand break repair via sister chromatid exchange IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to hydroperoxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in single strand break repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomeric DNA-containing double minutes formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in voluntary musculoskeletal movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ERCC4-ERCC1 complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA repair protein XRCC1
    Names
    X-ray repair complementing defective repair in Chinese hamster cells 1
    X-ray repair cross-complementing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033799.1 RefSeqGene

      Range
      5001..37267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_784

    mRNA and Protein(s)

    1. NM_006297.3NP_006288.2  DNA repair protein XRCC1

      See identical proteins and their annotated locations for NP_006288.2

      Status: REVIEWED

      Source sequence(s)
      AB208781, AC018758, AK315332, BP349667
      Consensus CDS
      CCDS12624.1
      UniProtKB/Swiss-Prot
      P18887
      UniProtKB/TrEMBL
      B2RCY5, Q59HH7
      Related
      ENSP00000262887.5, ENST00000262887.10
      Conserved Domains (3) summary
      smart00292
      Location:540615
      BRCT; breast cancer carboxy-terminal domain
      pfam00533
      Location:318389
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam01834
      Location:1148
      XRCC1_N; XRCC1 N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      43543311..43575527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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