XRCC3 X-ray repair cross complementing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XRCC3provided by HGNC
Official Full Name: X-ray repair cross complementing 3provided by HGNC
Primary source: HGNC:HGNC:12830
See related: Ensembl:ENSG00000126215 MIM:600675; AllianceGenome:HGNC:12830
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: CMM6
Summary: This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 5.7), skin (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (103697617..103715451, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (97933664..97951508, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (104163954..104181788, complement)

Chromosome 14 - NC_000014.9 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: 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?

Homologous recombination DNA repair gene RAD51, XRCC2 & XRCC3 polymorphisms and breast cancer risk in South Indian women.
Title: Homologous recombination DNA repair gene RAD51, XRCC2 & XRCC3 polymorphisms and breast cancer risk in South Indian women.
Ethnicity-stratified analysis of the association between XRCC3 Thr241Met polymorphism and leukemia: an updated meta-analysis.
Title: Ethnicity-stratified analysis of the association between XRCC3 Thr241Met polymorphism and leukemia: an updated meta-analysis.
Genetic variations in DNA-repair genes (XRCC1, 3, and 7) and the susceptibility to hepatocellular carcinoma in a cohort of Egyptians.
Title: Genetic variations in DNA-repair genes (XRCC1, 3, and 7) and the susceptibility to hepatocellular carcinoma in a cohort of Egyptians.
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.
XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.
Title: XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population.
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.
Systematic evaluation of the association between a missense variant in XRCC3 gene splicing site and the pathogenesis of ovarian cancer.
Title: Systematic evaluation of the association between a missense variant in XRCC3 gene splicing site and the pathogenesis of ovarian cancer.
Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis.
Title: Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis.
Association between XRCC3 rs861539 Polymorphism and the Risk of Ovarian Cancer: Meta-Analysis and Trial Sequential Analysis.
Title: Association between XRCC3 rs861539 Polymorphism and the Risk of Ovarian Cancer: Meta-Analysis and Trial Sequential Analysis.
Association of genetic polymorphisms in DNA repair genes ERCC2 Asp312Asn (rs1799793), ERCC2 Lys 751 Gln (rs13181), XRCC1 Arg399 Gln (rs25487) and XRCC3 Thr 241Met (rs861539) with the susceptibility of lung cancer in Saudi population.
Title: Association of genetic polymorphisms in DNA repair genes ERCC2 Asp312Asn (rs1799793), ERCC2 Lys 751 Gln (rs13181), XRCC1 Arg399 Gln (rs25487) and XRCC3 Thr 241Met (rs861539) with the susceptibility of lung cancer in Saudi population.

Submit: New GeneRIF Correction See all GeneRIFs (289)

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
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs
Melanoma, cutaneous malignant, susceptibility to, 6 MedGen: C3151417 OMIM: 613972 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. 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

RH93079 (e-PCR)
- UniSTS:91147

G36094 (e-PCR)
- UniSTS:35103

XRCC3_1114 (e-PCR)
- UniSTS:277868

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
contributes_to crossover junction DNA endonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to four-way junction DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to four-way junction DNA 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 DNA damage response	TAS Traceable Author Statement more info	PubMed
involved_in DNA recombination	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	IGI Inferred from Genetic Interaction more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via synthesis-dependent strand annealing	IBA Inferred from Biological aspect of Ancestor more info
involved_in interstrand cross-link repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in resolution of mitotic recombination intermediates	IBA Inferred from Biological aspect of Ancestor more info
involved_in resolution of mitotic recombination intermediates	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in t-circle formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in t-circle formation	IC Inferred by Curator more info	PubMed
involved_in t-circle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via telomere trimming	IGI Inferred from Genetic Interaction more info	PubMed
involved_in telomeric loop disassembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of Rad51C-XRCC3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Rad51C-XRCC3 complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IC Inferred by Curator more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in replication fork	IBA Inferred from Biological aspect of Ancestor more info
located_in replication fork	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA repair protein XRCC3

Names: X-ray repair complementing defective repair in Chinese hamster cells 3; X-ray repair cross-complementing protein 3

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_011516.1 RefSeqGene

Range

5036..22870

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001100118.2 → NP_001093588.1 DNA repair protein XRCC3

See identical proteins and their annotated locations for NP_001093588.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a segment in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5 and 6 encode the same protein.

Source sequence(s)

BC002949, BX161398

Consensus CDS

CCDS9984.1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8

Related

ENSP00000343392.7, ENST00000352127.11

Conserved Domains (1) summary

cd01123
Location:82 → 338

Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
NM_001100119.2 → NP_001093589.1 DNA repair protein XRCC3

See identical proteins and their annotated locations for NP_001093589.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, 4, 5 and 6 encode the same protein.

Source sequence(s)

AK022829, BC002949, BX161398, DB041321

Consensus CDS

CCDS9984.1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8

Conserved Domains (1) summary

cd01123
Location:82 → 338

Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
NM_001371229.1 → NP_001358158.1 DNA repair protein XRCC3

Status: REVIEWED

Source sequence(s)

AL049840

Consensus CDS

CCDS9984.1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8

Conserved Domains (1) summary

cd01123
Location:82 → 338

Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
NM_001371231.1 → NP_001358160.1 DNA repair protein XRCC3

Status: REVIEWED

Source sequence(s)

AL049840

Consensus CDS

CCDS9984.1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8

Conserved Domains (1) summary

cd01123
Location:82 → 338

Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
NM_001371232.1 → NP_001358161.1 DNA repair protein XRCC3

Status: REVIEWED

Source sequence(s)

AK022829, BC001036, BC011725

Consensus CDS

CCDS9984.1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8

Related

ENSP00000451362.1, ENST00000554913.5

Conserved Domains (1) summary

cd01123
Location:82 → 338

Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
NM_005432.4 → NP_005423.1 DNA repair protein XRCC3

See identical proteins and their annotated locations for NP_005423.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5 and 6 encode the same protein.

Source sequence(s)

AK023646, BC002949, BX161398, DB041321

Consensus CDS

CCDS9984.1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8

Related

ENSP00000452598.1, ENST00000555055.6

Conserved Domains (1) summary

cd01123
Location:82 → 338

Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

103697617..103715451 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005268046.3 → XP_005268103.1 DNA repair protein XRCC3 isoform X1

See identical proteins and their annotated locations for XP_005268103.1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8

Related

ENSP00000451974.1, ENST00000553264.5

Conserved Domains (1) summary

cd01123
Location:82 → 338

Rad51_DMC1_radA; B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a similiar ...
XM_047431768.1 → XP_047287724.1 DNA repair protein XRCC3 isoform X1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8
XM_047431766.1 → XP_047287722.1 DNA repair protein XRCC3 isoform X1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8
XM_047431767.1 → XP_047287723.1 DNA repair protein XRCC3 isoform X1

UniProtKB/Swiss-Prot

O43542, O43568, Q9BU18

UniProtKB/TrEMBL

Q53XC8