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

Summary

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; AllianceGenome:HGNC:12828
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: mouse all
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Genomic context

Location:: 19q13.31

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (43543311..43575527, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (46364840..46397157, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (44047463..44079679, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Correlations of SDF-1a and XRCC1 gene polymorphisms with the risk of renal cancer development and bioinformatics studies of SDF-1alpha and XRCC1 and the prognosis of renal cancer.
Title: Correlations of SDF-1ɑ and XRCC1 gene polymorphisms with the risk of renal cancer development and bioinformatics studies of SDF-1α and XRCC1 and the prognosis of renal cancer.
Upregulation of XRCC1 DNA Repair Gene, Interleukin-8, and Bcl-2 Antiapoptotic Gene Levels in Kurdish Patients with Gastric Adenocarcinoma.
Title: Upregulation of XRCC1 DNA Repair Gene, Interleukin-8, and Bcl-2 Antiapoptotic Gene Levels in Kurdish Patients with Gastric Adenocarcinoma.
XRCC1: a potential prognostic and immunological biomarker in LGG based on systematic pan-cancer analysis.
Title: XRCC1: a potential prognostic and immunological biomarker in LGG based on systematic pan-cancer analysis.
XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population.
Title: XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population.
The XRCC1 and TP53 gene polymorphisms are associated with advanced-stage disease and early distant metastasis at diagnosis in non-small cell lung cancer.
Title: The XRCC1 and TP53 gene polymorphisms are associated with advanced-stage disease and early distant metastasis at diagnosis in non-small cell lung cancer.
Overexpression of XRCC1 is Associated with Poor Survival in Patients with Head and Neck Squamous Carcinoma and Has Potential to Be Used as Targeted Therapy by Synthetic Lethality.
Title: Overexpression of XRCC1 is Associated with Poor Survival in Patients with Head and Neck Squamous Carcinoma and Has Potential to Be Used as Targeted Therapy by Synthetic Lethality.
Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study.
Title: Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study.
Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis.
Title: Association Between the XRCC1, GSTM1, and GSTT1 Polymorphisms in Model of Thyroid Cancer: A Meta-Analysis.
Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer.
Title: Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer.
Effect of XRCC1 Arg399Gln Gene Polymorphism on Survival in Lymphoblastic Leukemia.
Title: Effect of XRCC1 Arg399Gln Gene Polymorphism on Survival in Lymphoblastic Leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (864)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinocerebellar ataxia, autosomal recessive 26 MedGen: C4539948 OMIM: 617633 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G64200 (e-PCR)
- UniSTS:146718

G64133 (e-PCR)
- UniSTS:146753

RH48808 (e-PCR)
- UniSTS:73282

G64148 (e-PCR)
- UniSTS:146754

G64149 (e-PCR)
- UniSTS:146755

G64150 (e-PCR)
- UniSTS:146756

G64145 (e-PCR)
- UniSTS:146757

G64146 (e-PCR)
- UniSTS:146758

RH17697 (e-PCR)
- UniSTS:32369

SHGC-30018 (e-PCR)
- UniSTS:36753

D10S2482 (e-PCR)
- UniSTS:29340

D19S408 (e-PCR), detects polymorphism
- UniSTS:67767

SHGC-2304 (e-PCR)
- UniSTS:91645

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3' overhang single-stranded DNA endodeoxyribonuclease activity	IEA Inferred from Electronic Annotation more info
enables ADP-D-ribose modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables oxidized DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables poly-ADP-D-ribose 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 base-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in base-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebellum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via nonhomologous end joining	IEA Inferred from Electronic Annotation more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protection from non-homologous end joining at telomere	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ADP-ribosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replication-born double-strand break repair via sister chromatid exchange	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hydroperoxide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to organic substance	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	IEA Inferred from Electronic Annotation more info
involved_in voluntary musculoskeletal movement	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ERCC4-ERCC1 complex	IEA Inferred from Electronic Annotation more info
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
located_in nucleolus	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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in site of DNA damage	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NCBI Reference Sequences (RefSeq)

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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

NG_033799.1 RefSeqGene

Range

5001..37267

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_784

mRNA and Protein(s)

NM_006297.3 → NP_006288.2 DNA repair protein XRCC1

See identical proteins and their annotated locations for NP_006288.2

Status: REVIEWED

Source sequence(s)

AB208781, AC018758, AK315332, BP349667

Consensus CDS

CCDS12624.1

UniProtKB/Swiss-Prot

P18887, Q6IBS4, Q9HCB1

UniProtKB/TrEMBL

B2RCY5

Related

ENSP00000262887.5, ENST00000262887.10

Conserved Domains (3) summary

smart00292
Location:540 → 615

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:318 → 389

BRCT; BRCA1 C Terminus (BRCT) domain

pfam01834
Location:1 → 148

XRCC1_N; XRCC1 N terminal domain