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

Gene ID: 7517, updated on 3-Oct-2020

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
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

Genomic context

See XRCC3 in Genome Data Viewer
Location:
14q32.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (103697611..103715486, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104163945..104181823, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U4 small nuclear 68, pseudogene Neighboring gene cytochrome c oxidase assembly factor 8 Neighboring gene uncharacterized LOC105370688 Neighboring gene kinesin light chain 1 Neighboring gene uncharacterized LOC112268131 Neighboring gene uncharacterized LOC107984648 Neighboring gene zinc finger FYVE-type containing 21 Neighboring gene protein phosphatase 1 regulatory subunit 13B Neighboring gene long intergenic non-protein coding RNA 637

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

Homology

Gene Ontology Provided by GOA

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

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
    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
    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
    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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    103697611..103715486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268046.2XP_005268103.1  DNA repair protein XRCC3 isoform X1

    See identical proteins and their annotated locations for XP_005268103.1

    UniProtKB/Swiss-Prot
    O43542
    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 ...
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