Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xrcc1provided by MGI
Official Full Name: X-ray repair complementing defective repair in Chinese hamster cells 1provided by MGI
Primary source: MGI:MGI:99137
See related: Ensembl:ENSMUSG00000051768 AllianceGenome:MGI:99137
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Xrcc-1
Summary: Contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in several processes, including DNA metabolic process; negative regulation of protein ADP-ribosylation; and regulation of response to DNA damage stimulus. Acts upstream of or within DNA repair and hippocampus development. Located in chromosome, telomeric region. Part of ERCC4-ERCC1 complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive spinocerebellar ataxia 26; carcinoma (multiple); hematologic cancer (multiple); hepatitis A; and reproductive organ cancer (multiple). Orthologous to human XRCC1 (X-ray repair cross complementing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in limb E14.5 (RPKM 16.3), CNS E11.5 (RPKM 14.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 11.42 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (24246124..24272863)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (24546699..24573438)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Polbeta/XRCC1 heterodimerization dictates DNA damage recognition and basal Polbeta protein levels without interfering with mouse viability or fertility.
Title: Polβ/XRCC1 heterodimerization dictates DNA damage recognition and basal Polβ protein levels without interfering with mouse viability or fertility.
demonstrated that Xrcc1 deficiency in primordial germ cells induced elevated levels of reactive oxygen species, mitochondria dysfunction, apoptosis, and loss of stemness of spermatogonial stem cells (SSCs) in testes. In Xrcc1-deficienct SSCs, elevated oxidative stress and mitochondrial dysfunction could be partially reversed by treatment with the antioxidant N-acetylcysteine
Title: Deficiency of X-ray repair cross-complementing group 1 in primordial germ cells contributes to male infertility.
SIRT1 confers chemoresistance to lung cancer cells by deacetylating and stabilizing XRCC1.
Title: SIRT1 deacetylated and stabilized XRCC1 to promote chemoresistance in lung cancer.
Unrepaired single strand DNA breaks (SSBs) activate DNA damage response and increase the expression of inflammatory cytokines through NF-kappaB signalling. Pressure overload-induced heart failure is more severe in the mice lacking XRCC1, an essential protein for SSB repair.
Title: DNA single-strand break-induced DNA damage response causes heart failure.
Interaction with phosphorylated XRCC1 is a requirement for significant APTX recruitment to cellular DNA damage and enzymatic activity in cell extracts.
Title: XRCC1 phosphorylation affects aprataxin recruitment and DNA deadenylation activity.
this review focuses on the role of the oxidized form of XRCC1 in protection against extreme oxidative stress
Title: Role of the oxidized form of XRCC1 in protection against extreme oxidative stress.
Repair independent of the well documented XRCC1-PNKP interaction was studied. XRCC1 can mediate repair of strand breaks without PNKP binding.
Title: XRCC1-mediated repair of strand breaks independent of PNKP binding.
data establish the importance of XRCC1 protein complexes for normal neurological function and identify PARP1 as a therapeutic target in DNA strand break repair-defective disease
Title: XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
We have characterized the nuclear localization signal (NLS) of XRCC1 structurally using X-ray crystallography and functionally using fluorescence imaging.
Title: Nuclear Localization of the DNA Repair Scaffold XRCC1: Uncovering the Functional Role of a Bipartite NLS.
Its allelic loss results in increased brain damage and reduced recovery from ischemic stroke.
Title: Partial loss of the DNA repair scaffolding protein, Xrcc1, results in increased brain damage and reduced recovery from ischemic stroke in mice.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Xrcc1 (e-PCR), detects polymorphism
- UniSTS:144801

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ADP-D-ribose modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables oxidized DNA binding	ISO Inferred from Sequence Orthology more info
enables poly-ADP-D-ribose binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in base-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in base-excision repair	ISO Inferred from Sequence Orthology more info
involved_in cerebellum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ADP-ribosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ADP-ribosylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA ligase activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in replication-born double-strand break repair via sister chromatid exchange	ISO Inferred from Sequence Orthology more info
involved_in response to hydroperoxide	ISO Inferred from Sequence Orthology more info
involved_in single strand break repair	IEA Inferred from Electronic Annotation more info
involved_in telomeric DNA-containing double minutes formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in voluntary musculoskeletal movement	IGI Inferred from Genetic Interaction more info	PubMed
involved_in voluntary musculoskeletal movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in voluntary musculoskeletal movement	ISO Inferred from Sequence Orthology more info

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

General protein information

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Preferred Names: DNA repair protein XRCC1

Names: 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.

mRNA and Protein(s)

NM_001360168.1 → NP_001347097.1 DNA repair protein XRCC1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AC161166

UniProtKB/TrEMBL

Q3TGI0

Conserved Domains (4) summary

pfam00533
Location:317 → 388

BRCT; BRCA1 C Terminus (BRCT) domain

pfam01834
Location:1 → 150

XRCC1_N; XRCC1 N terminal domain

pfam16589
Location:541 → 624

BRCT_2; BRCT domain, a BRCA1 C-terminus domain

cl27000
Location:405 → 531

TFIIFa; Transcription initiation factor IIF, alpha subunit, N-terminal region of RAP74. Subunit of transcription initiation complex involved in initiation, elongation and promoter escape.Tetramer of 2 alpha and 2 beta TFIIF subunits interacts directly with RNA ...
NM_001360169.1 → NP_001347098.1 DNA repair protein XRCC1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC161166

UniProtKB/TrEMBL

Q3TGI0

Conserved Domains (4) summary

pfam00533
Location:223 → 294

BRCT; BRCA1 C Terminus (BRCT) domain

pfam01834
Location:1 → 55

XRCC1_N; XRCC1 N terminal domain

pfam16589
Location:447 → 530

BRCT_2; BRCT domain, a BRCA1 C-terminus domain

cl27000
Location:311 → 437

TFIIFa; Transcription initiation factor IIF, alpha subunit, N-terminal region of RAP74. Subunit of transcription initiation complex involved in initiation, elongation and promoter escape.Tetramer of 2 alpha and 2 beta TFIIF subunits interacts directly with RNA ...
NM_001360170.1 → NP_001347099.1 DNA repair protein XRCC1 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC161166, AK046611

UniProtKB/TrEMBL

Q8BQS1

Conserved Domains (1) summary

pfam01834
Location:1 → 88

XRCC1_N; XRCC1 N terminal domain
NM_009532.5 → NP_033558.3 DNA repair protein XRCC1 isoform 1

See identical proteins and their annotated locations for NP_033558.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC161166

Consensus CDS

CCDS20955.1

UniProtKB/Swiss-Prot

Q3THC5, Q5U435, Q60596, Q7TNQ5

UniProtKB/TrEMBL

Q3TGI0

Related

ENSMUSP00000146105.2, ENSMUST00000205573.2

Conserved Domains (3) summary

smart00292
Location:538 → 613

BRCT; breast cancer carboxy-terminal domain

pfam00533
Location:318 → 389

BRCT; BRCA1 C Terminus (BRCT) domain

pfam01834
Location:1 → 150

XRCC1_N; XRCC1 N terminal domain