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XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 [ Homo sapiens (human) ]

Gene ID: 7515, updated on 7-Dec-2014
Official Symbol
XRCC1provided by HGNC
Official Full Name
X-ray repair complementing defective repair in Chinese hamster cells 1provided by HGNC
Primary source
HGNC:HGNC:12828
See related
Ensembl:ENSG00000073050; HPRD:01909; 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
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]
See XRCC1 in Epigenomics, MapViewer
Location:
19q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 ethylmalonic encephalopathy 1 Neighboring gene zinc finger protein 575 Neighboring gene phospholipase A2 inhibitor and LY6/PLAUR domain containing Neighboring gene immunity-related GTPase family, Q

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
damaged DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
 
base-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
 
base-excision repair TAS
Traceable Author Statement
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
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
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
DNA repair protein XRCC1
Names
DNA repair protein XRCC1
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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_006288.2

    Status: REVIEWED

    Source sequence(s)
    AB208781, AK315332, BP349667
    Consensus CDS
    CCDS12624.1
    UniProtKB/TrEMBL
    B2RCY5
    UniProtKB/Swiss-Prot
    P18887
    UniProtKB/TrEMBL
    Q59HH7
    Related
    ENSP00000443671, OTTHUMP00000269918, ENST00000543982, OTTHUMT00000463195
    Conserved Domains (3) summary
    pfam05505
    Location:406538
    Ebola_NP; Ebola nucleoprotein
    cd00027
    Location:322389
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    pfam01834
    Location:1151
    XRCC1_N; XRCC1 N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    44049115..44081452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    40478136..40510489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)