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    XRCC3 X-ray repair cross complementing 3 [ Homo sapiens (human) ]

    Gene ID: 7517, updated on 15-Jul-2024

    Summary

    Official Symbol
    XRCC3provided by HGNC
    Official Full Name
    X-ray repair cross complementing 3provided by HGNC
    Primary source
    HGNC:HGNC:12830
    See related
    Ensembl:ENSG00000126215 MIM:600675; AllianceGenome:HGNC:12830
    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
    CMM6
    Summary
    This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.7), skin (RPKM 5.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See XRCC3 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103697617..103715451, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97933664..97951508, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104163954..104181788, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U4 small nuclear 68, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:104054857-104055031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104056621-104057122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104057123-104057622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6161 Neighboring gene cytochrome c oxidase assembly factor 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6162 Neighboring gene uncharacterized LOC105370688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104106328-104106828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6168 Neighboring gene kinesin light chain 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104140157-104140656 Neighboring gene MPRA-validated peak2255 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104172251-104172810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104172811-104173372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104180589-104181274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104184511-104185021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104187639-104188139 Neighboring gene zinc finger FYVE-type containing 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104209353-104210134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6175 Neighboring gene protein phosphatase 1 regulatory subunit 13B Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104260985-104261486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104261487-104261986 Neighboring gene small nucleolar RNA SNORD51

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to crossover junction DNA endonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to four-way junction DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via synthesis-dependent strand annealing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in interstrand cross-link repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in resolution of mitotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in resolution of mitotic recombination intermediates IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in t-circle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in t-circle formation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in t-circle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere maintenance via recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in telomere maintenance via recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere maintenance via telomere trimming IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in telomeric loop disassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Rad51C-XRCC3 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Rad51C-XRCC3 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region IC
    Inferred by Curator
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion 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
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in replication fork IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA repair protein XRCC3
    Names
    X-ray repair complementing defective repair in Chinese hamster cells 3
    X-ray repair cross-complementing protein 3

    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_011516.1 RefSeqGene

      Range
      5036..22870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001100118.2NP_001093588.1  DNA repair protein XRCC3

      See identical proteins and their annotated locations for NP_001093588.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a segment in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5 and 6 encode the same protein.
      Source sequence(s)
      BC002949, BX161398
      Consensus CDS
      CCDS9984.1
      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
      Related
      ENSP00000343392.7, ENST00000352127.11
      Conserved Domains (1) summary
      cd01123
      Location:82338
      Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
    2. NM_001100119.2NP_001093589.1  DNA repair protein XRCC3

      See identical proteins and their annotated locations for NP_001093589.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, 4, 5 and 6 encode the same protein.
      Source sequence(s)
      AK022829, BC002949, BX161398, DB041321
      Consensus CDS
      CCDS9984.1
      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
      Conserved Domains (1) summary
      cd01123
      Location:82338
      Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
    3. NM_001371229.1NP_001358158.1  DNA repair protein XRCC3

      Status: REVIEWED

      Source sequence(s)
      AL049840
      Consensus CDS
      CCDS9984.1
      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
      Conserved Domains (1) summary
      cd01123
      Location:82338
      Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
    4. NM_001371231.1NP_001358160.1  DNA repair protein XRCC3

      Status: REVIEWED

      Source sequence(s)
      AL049840
      Consensus CDS
      CCDS9984.1
      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
      Conserved Domains (1) summary
      cd01123
      Location:82338
      Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
    5. NM_001371232.1NP_001358161.1  DNA repair protein XRCC3

      Status: REVIEWED

      Source sequence(s)
      AK022829, BC001036, BC011725
      Consensus CDS
      CCDS9984.1
      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
      Related
      ENSP00000451362.1, ENST00000554913.5
      Conserved Domains (1) summary
      cd01123
      Location:82338
      Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
    6. NM_005432.4NP_005423.1  DNA repair protein XRCC3

      See identical proteins and their annotated locations for NP_005423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5 and 6 encode the same protein.
      Source sequence(s)
      AK023646, BC002949, BX161398, DB041321
      Consensus CDS
      CCDS9984.1
      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
      Related
      ENSP00000452598.1, ENST00000555055.6
      Conserved Domains (1) summary
      cd01123
      Location:82338
      Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      103697617..103715451 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268046.3XP_005268103.1  DNA repair protein XRCC3 isoform X1

      See identical proteins and their annotated locations for XP_005268103.1

      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
      Related
      ENSP00000451974.1, ENST00000553264.5
      Conserved Domains (1) summary
      cd01123
      Location:82338
      Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
    2. XM_047431768.1XP_047287724.1  DNA repair protein XRCC3 isoform X1

      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
    3. XM_047431766.1XP_047287722.1  DNA repair protein XRCC3 isoform X1

      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8
    4. XM_047431767.1XP_047287723.1  DNA repair protein XRCC3 isoform X1

      UniProtKB/Swiss-Prot
      O43542, O43568, Q9BU18
      UniProtKB/TrEMBL
      Q53XC8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      97933664..97951508 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376706.1XP_054232681.1  DNA repair protein XRCC3 isoform X1

    2. XM_054376707.1XP_054232682.1  DNA repair protein XRCC3 isoform X1