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

Summary

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Official Symbol: XRCC1provided by HGNC
Official Full Name: X-ray repair complementing defective repair in Chinese hamster cells 1provided by HGNC
Primary source: 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]

Genomic context

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Location :: 19q13.2

Sequence :: Chromosome: 19; NC_000019.9 (44047464..44079730, complement)

See XRCC1 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

In conclusion, the results of the present study suggest that XRCC1 Arg399Gln polymorphism might not modify the susceptibility to bladder cancer.
Title: XRCC1 Arg399Gln polymorphism and bladder cancer risk: updated meta-analyses based on 5767 cases and 6919 controls.
XRCC1 is recruited to single-strand break repair by PARP-1, responsible for the initial recognition of the break.
Title: Distinct spatiotemporal patterns and PARP dependence of XRCC1 recruitment to single-strand break and base excision repair.
The objective of this study was to analyze the association between this functional SNP of XRCC1 and Tourette syndrome(TS)in Han Taiwan Chinese population. Our study indicates that the functional SNP at codon 399 of XRCC1 is associated with TS development.
Title: Association of genetic variations in X-ray repair cross-complementing group 1 and Tourette syndrome.
the genetic variant Arg280His in XRCC1 may contribute to cancer progression and that XRCC1 Arg194Trp variants may act as a favorable prognostic indicator of resected GC, particularly among the diffuse-type gastric cancer
Title: Association of XRCC1 gene polymorphisms with the survival and clinicopathological characteristics of gastric cancer.
Studied XRCC1 Arg399Gln(G-->A) and response to oxaliplatin in colorectal cancer.Results suggest that XRCC1 Arg399Gln polymorphisms is associated with the response to oxaliplatin and time to progression in advanced colorectal cancer in Chinese population.
Title: Genetic polymorphism of XRCC1 correlated with response to oxaliplatin-based chemotherapy in advanced colorectal cancer.
XRCC1 Arg399Gln gene polymorphism is associated with hepatocellular carcinoma.
Title: XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Chinese Han population: a meta-analysis.
Our findings revealed an interethnic variability in prevalence of XRCC1 polymorphisms in a healthy Tunisian population.
Title: DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction.
XRCC1 polymorphism may be a valuable genetic marker for oxaliplatin-based chemotherapy in colorectal cancer--{REVIEW}
Title: XRCC1 and GSTP1 polymorphisms and prognosis of oxaliplatin-based chemotherapy in colorectal cancer: a meta-analysis.
These findings suggest a predictive role for XRCC1 gene polymorphisms in clinical outcome.
Title: Predictive value of XRCC1 gene polymorphisms on platinum-based chemotherapy in advanced non-small cell lung cancer patients: a systematic review and meta-analysis.
The XRCC1 Arg194Trp and Arg399Gln polymorphisms are not associated with hepatocellular carcinoma risk.
Title: X-ray repair cross-complementing group 1 polymorphisms and hepatocellular carcinoma: a meta-analysis.

Submit: New GeneRIF Correction See all (391)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_006288.1	NP_778243.1	APTX	BIND	PubMed	APTX interacts with XRCC1.
NP_006288.1	NP_078884.1	NEIL1	BIND	PubMed	XRCC1 interacts with Neil1.
NP_006288.1	NP_009185.2	PNKP	BIND	PubMed	Phosphorylated XRCC1 interacts with PNK.
P18887	P27695	APEX1	HPRD	PubMed
P18887	Q8IW19	APLF	HPRD	PubMed
P18887	Q7Z2E3	APTX	HPRD	PubMed
P18887	P38398	BRCA1	HPRD	PubMed
P18887	P68400	CSNK2A1	HPRD	PubMed
P18887	P19784	CSNK2A2	HPRD	PubMed
P18887	P49916	LIG3	HPRD	PubMed
P18887	Q96FI4	NEIL1	HPRD	PubMed
P18887	O15527	OGG1	HPRD	PubMed
P18887	P09874	PARP1	HPRD	PubMed
P18887	Q9UGN5	PARP2	HPRD	PubMed
P18887	P12004	PCNA	HPRD	PubMed
P18887	Q96T60	PNKP	HPRD	PubMed
P18887	P06746	POLB	HPRD	PubMed
BioGRID:113349	BioGRID:106825	APEX1	BioGRID	PubMed	Far Western; Two-hybrid
BioGRID:113349	BioGRID:120191	APTX	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:113349	BioGRID:115801	ARL6IP5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:120937	CAND1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113349	BioGRID:114929	CHD1L	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:107841	CSNK2A1	BioGRID	PubMed	Biochemical Activity
BioGRID:113349	BioGRID:246438	Cebpb	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:110168	LIG3	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-purification; Reconstituted Complex; Two-hybrid
BioGRID:113349	BioGRID:112097	MRPL12	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:122089	NCAPG	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:122787	NEIL1	BioGRID	PubMed	Reconstituted Complex
BioGRID:113349	BioGRID:111018	OGG1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:113349	BioGRID:106652	PARP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:113349	BioGRID:115350	PARP2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-Western; Co-localization; FRET; Reconstituted Complex
BioGRID:113349	BioGRID:116440	PNKP	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Far Western; Two-hybrid
BioGRID:113349	BioGRID:111419	POLB	BioGRID	PubMed	Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid
BioGRID:113349	BioGRID:111420	POLD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:116370	POLI	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:119532	POLK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:111530	PPT1	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:111837	RAN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:111871	RBM4	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:123598	RNF146	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity
BioGRID:113349	BioGRID:126627	S100A16	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:114926	SEC22B	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:120870	SEPT11	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:113188	SUMO1	BioGRID	PubMed	Biochemical Activity
BioGRID:113349	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113349	BioGRID:114428	TIMELESS	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113349	BioGRID:115227	UBAP2L	BioGRID	PubMed	Co-fractionation
BioGRID:113349	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113349	BioGRID:113348	XPO1	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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BER complex, organism-specific biosystem (from KEGG)
BER complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
BER complex, conserved biosystem (from KEGG)
BER complex, conserved biosystemStructural complex; Genetic information processing; Repair system
Base Excision Repair, organism-specific biosystem (from REACTOME)
Base Excision Repair, organism-specific biosystemOf the three major pathways involved in the repair of nucleotide damage in DNA, base excision repair (BER) involves the greatest number of individual enzymatic activities. This is the consequence of...
Base excision repair, organism-specific biosystem (from KEGG)
Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
Base excision repair, conserved biosystem (from KEGG)
Base excision repair, conserved biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
DNA Repair, organism-specific biosystem (from REACTOME)
DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
E2F transcription factor network, organism-specific biosystem
E2F transcription factor network
FOXM1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
FOXM1 transcription factor network, organism-specific biosystem
FOXM1 transcription factor network
Resolution of AP sites via the single-nucleotide replacement pathway, organism-specific biosystem (from REACTOME)
Resolution of AP sites via the single-nucleotide replacement pathway, organism-specific biosystemThe single-nucleotide replacement pathway of base excision repair appears to facilitate the repair of most damaged bases. Following DNA glycosylase mediated cleavage of the damaged base, the endonucl...
Resolution of Abasic Sites (AP sites), organism-specific biosystem (from REACTOME)
Resolution of Abasic Sites (AP sites), organism-specific biosystemResolution of AP sites can occur through the single-nucleotide replacement pathway or through the multiple-nucleotide patch replacement pathway.

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

Homology

Homologs of the XRCC1 gene: The XRCC1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

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	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	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: DNA repair protein XRCC1

Names: DNA repair protein XRCC1; X-ray repair cross-complementing protein 1; X-ray-repair, complementing defective, repair in Chinese hamster

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.

mRNA and Protein(s)

NM_006297.2 → NP_006288.2 DNA repair protein XRCC1

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 (2) summary

cd00027
Location:322 – 389
Blast Score: 144

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:1 – 151
Blast Score: 747

XRCC1_N; XRCC1 N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

44047464..44079730, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

40478136..40510489, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

44237299..44269653, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01040862.1 (55047..80001)	None
genomic	ABBA01040863.1	None
genomic	AC018758.2	AAG09061.1
genomic	AF512504.1	AAM34791.1
genomic	AMYH01009839.1 (166882..171636)	None
genomic	AMYH01009840.1	None
genomic	CH471126.1	EAW57201.1
		EAW57202.1
		EAW57203.1
genomic	L34079.2	None
genomic	Z23736.1	None
mRNA	AB208781.1	BAD92018.1
mRNA	AK293542.1	BAG57023.1
mRNA	AK300163.1	BAG61945.1
mRNA	AK315332.1	BAG37732.1
mRNA	BC023593.2	AAH23593.1
mRNA	BP349667.1	None
mRNA	CR456728.1	CAG33009.1
mRNA	M36089.1	AAA63270.1