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    Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 [ Mus musculus (house mouse) ]

    Gene ID: 22594, updated on 27-Nov-2024

    Summary

    Official Symbol
    Xrcc1provided by MGI
    Official Full Name
    X-ray repair complementing defective repair in Chinese hamster cells 1provided by MGI
    Primary source
    MGI:MGI:99137
    See related
    Ensembl:ENSMUSG00000051768 AllianceGenome:MGI:99137
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Xrcc-1
    Summary
    Contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in several processes, including DNA metabolic process; regulation of DNA metabolic process; and voluntary musculoskeletal movement. Acts upstream of or within DNA repair and hippocampus development. Located in chromosome, telomeric region. Part of ERCC4-ERCC1 complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); carcinoma (multiple); central nervous system cancer (multiple); gastrointestinal system cancer (multiple); and hematologic cancer (multiple). Orthologous to human XRCC1 (X-ray repair cross complementing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 16.3), CNS E11.5 (RPKM 14.3) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Xrcc1 in Genome Data Viewer
    Location:
    7 A3; 7 11.42 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (24246124..24272863)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (24546699..24573438)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene immunity-related GTPase family, Q Neighboring gene STARR-seq mESC enhancer starr_18269 Neighboring gene phospholipase A2 inhibitor and LY6/PLAUR domain containing Neighboring gene zinc finger protein 575 Neighboring gene ethylmalonic encephalopathy 1 Neighboring gene STARR-seq mESC enhancer starr_18271 Neighboring gene STARR-positive B cell enhancer ABC_E4903 Neighboring gene pleckstrin homology like domain, family B, member 3 Neighboring gene predicted gene, 26550

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC102556

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ADP-D-ribose modification-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ADP-D-ribose modification-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables oxidized DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidized DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables poly-ADP-D-ribose binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables poly-ADP-D-ribose binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in base-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in base-excision repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in base-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cerebellum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hippocampus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protection from non-homologous end joining at telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein ADP-ribosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein ADP-ribosylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in replication-born double-strand break repair via sister chromatid exchange IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in replication-born double-strand break repair via sister chromatid exchange ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydroperoxide ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hypoxia 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in voluntary musculoskeletal movement IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in voluntary musculoskeletal movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in voluntary musculoskeletal movement ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of ERCC4-ERCC1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
     
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in site of DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in site of DNA damage ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    DNA repair protein XRCC1
    Names
    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.

    mRNA and Protein(s)

    1. NM_001360168.1NP_001347097.1  DNA repair protein XRCC1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AC161166
      UniProtKB/TrEMBL
      Q3TGI0
      Conserved Domains (4) summary
      pfam00533
      Location:317388
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam01834
      Location:1150
      XRCC1_N; XRCC1 N terminal domain
      pfam16589
      Location:541624
      BRCT_2; BRCT domain, a BRCA1 C-terminus domain
      cl27000
      Location:405531
      TFIIFa; Transcription initiation factor IIF, alpha subunit, N-terminal region of RAP74. Subunit of transcription initiation complex involved in initiation, elongation and promoter escape.Tetramer of 2 alpha and 2 beta TFIIF subunits interacts directly with RNA ...
    2. NM_001360169.1NP_001347098.1  DNA repair protein XRCC1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC161166
      UniProtKB/TrEMBL
      Q3TGI0
      Conserved Domains (4) summary
      pfam00533
      Location:223294
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam01834
      Location:155
      XRCC1_N; XRCC1 N terminal domain
      pfam16589
      Location:447530
      BRCT_2; BRCT domain, a BRCA1 C-terminus domain
      cl27000
      Location:311437
      TFIIFa; Transcription initiation factor IIF, alpha subunit, N-terminal region of RAP74. Subunit of transcription initiation complex involved in initiation, elongation and promoter escape.Tetramer of 2 alpha and 2 beta TFIIF subunits interacts directly with RNA ...
    3. NM_001360170.1NP_001347099.1  DNA repair protein XRCC1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC161166, AK046611
      UniProtKB/TrEMBL
      Q8BQS1
      Conserved Domains (1) summary
      pfam01834
      Location:188
      XRCC1_N; XRCC1 N terminal domain
    4. NM_009532.5NP_033558.3  DNA repair protein XRCC1 isoform 1

      See identical proteins and their annotated locations for NP_033558.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC161166
      Consensus CDS
      CCDS20955.1
      UniProtKB/Swiss-Prot
      Q3THC5, Q5U435, Q60596, Q7TNQ5
      UniProtKB/TrEMBL
      Q3TGI0
      Related
      ENSMUSP00000146105.2, ENSMUST00000205573.2
      Conserved Domains (3) summary
      smart00292
      Location:538613
      BRCT; breast cancer carboxy-terminal domain
      pfam00533
      Location:318389
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam01834
      Location:1150
      XRCC1_N; XRCC1 N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      24246124..24272863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_881685.2 RNA Sequence

    2. XR_004934060.1 RNA Sequence

    3. XR_001785520.1 RNA Sequence