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

Gene ID: 7515, updated on 17-Jun-2018
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; Vega:OTTHUMG00000182699
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
See XRCC1 in Genome Data Viewer
Location:
19q13.31
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (43543312..43575578, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44047464..44079730, 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 Neighboring gene zinc finger protein 576

  • 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
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
MedGen: CN417133 OMIM: 617633 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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

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_006297.2NP_006288.2  DNA repair protein XRCC1

    See identical proteins and their annotated locations for NP_006288.2

    Status: REVIEWED

    Source sequence(s)
    AB208781, AK315332, BP349667
    Consensus CDS
    CCDS12624.1
    UniProtKB/Swiss-Prot
    P18887
    UniProtKB/TrEMBL
    B2RCY5, Q59HH7
    Related
    ENSP00000262887.4, OTTHUMP00000269917, ENST00000262887.9, OTTHUMT00000463194
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    43543312..43575578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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