Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7517
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol XRCC3   Gene   UCSC   Ensembl
Aliases CMM6
Gene name X-ray repair cross complementing 3
Alternate names DNA repair protein XRCC3, X-ray repair complementing defective repair in Chinese hamster cells 3, X-ray repair cross-complementing protein 3,
Gene location 14q32.33 (103715485: 103697610)     Exons: 10     NC_000014.9
Gene summary(Entrez) 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]
OMIM 600675

Protein Summary

Protein general information O43542  

Name: DNA repair protein XRCC3 (X ray repair cross complementing protein 3)

Length: 346  Mass: 37,850

Sequence MDLDLLDLNPRIIAAIKKAKLKSVKEVLHFSGPDLKRLTNLSSPEVWHLLRTASLHLRGSSILTALQLHQQKERF
PTQHQRLSLGCPVLDALLRGGLPLDGITELAGRSSAGKTQLALQLCLAVQFPRQHGGLEAGAVYICTEDAFPHKR
LQQLMAQQPRLRTDVPGELLQKLRFGSQIFIEHVADVDTLLECVNKKVPVLLSRGMARLVVIDSVAAPFRCEFDS
QASAPRARHLQSLGATLRELSSAFQSPVLCINQVTEAMEEQGAAHGPLGFWDERVSPALGITWANQLLVRLLADR
LREEEAALGCPARTLRVLSAPHLPPSSCSYTISAEGVRGTPGTQSH
Structural information
Interpro:  IPR013632 IPR016467 IPR027417 IPR033925 IPR020588
Prosite:   PS50162

Pfam:  
PF08423
CDD:   cd01123

DIP:  
42016
MINT:   204782
STRING:   ENSP00000343392;
Other Databases GeneCards:  XRCC3;  Malacards:  XRCC3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000150 recombinase activity
IBA molecular_function
GO:0000707 meiotic DNA recombinase a
ssembly
IBA biological_process
GO:0000722 telomere maintenance via
recombination
IMP biological_process
GO:0000724 double-strand break repai
r via homologous recombin
ation
IMP biological_process
GO:0000731 DNA synthesis involved in
DNA repair
TAS biological_process
GO:0000732 strand displacement
TAS biological_process
GO:0000784 nuclear chromosome, telom
eric region
IC cellular_component
GO:0003690 double-stranded DNA bindi
ng
IBA molecular_function
GO:0003697 single-stranded DNA bindi
ng
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005657 replication fork
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0006281 DNA repair
IGI biological_process
GO:0006310 DNA recombination
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0007131 reciprocal meiotic recomb
ination
IBA biological_process
GO:0008094 DNA-dependent ATPase acti
vity
IBA molecular_function
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0010212 response to ionizing radi
ation
IBA biological_process
GO:0010824 regulation of centrosome
duplication
IMP biological_process
GO:0033063 Rad51B-Rad51C-Rad51D-XRCC
2 complex
IBA cellular_component
GO:0033065 Rad51C-XRCC3 complex
IDA cellular_component
GO:0042148 strand invasion
IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0071140 resolution of mitotic rec
ombination intermediates
IMP biological_process
GO:0090267 positive regulation of mi
totic cell cycle spindle
assembly checkpoint
IMP biological_process
GO:0090656 t-circle formation
IC biological_process
GO:0090656 t-circle formation
IMP biological_process
GO:0000400 four-way junction DNA bin
ding
IDA molecular_function
GO:0008821 crossover junction endode
oxyribonuclease activity
IMP molecular_function
GO:0008821 crossover junction endode
oxyribonuclease activity
IMP molecular_function
GO:0000150 recombinase activity
IBA molecular_function
GO:0000166 nucleotide binding
IEA molecular_function
GO:0000707 meiotic DNA recombinase a
ssembly
IBA biological_process
GO:0000722 telomere maintenance via
recombination
IMP biological_process
GO:0000724 double-strand break repai
r via homologous recombin
ation
IMP biological_process
GO:0000731 DNA synthesis involved in
DNA repair
TAS biological_process
GO:0000732 strand displacement
TAS biological_process
GO:0000784 nuclear chromosome, telom
eric region
IC cellular_component
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003690 double-stranded DNA bindi
ng
IBA molecular_function
GO:0003697 single-stranded DNA bindi
ng
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005657 replication fork
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0006281 DNA repair
IEA biological_process
GO:0006281 DNA repair
IEA biological_process
GO:0006281 DNA repair
IGI biological_process
GO:0006281 DNA repair
TAS biological_process
GO:0006310 DNA recombination
IEA biological_process
GO:0006310 DNA recombination
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0007131 reciprocal meiotic recomb
ination
IBA biological_process
GO:0008094 DNA-dependent ATPase acti
vity
IEA molecular_function
GO:0008094 DNA-dependent ATPase acti
vity
IBA molecular_function
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0010212 response to ionizing radi
ation
IBA biological_process
GO:0010824 regulation of centrosome
duplication
IMP biological_process
GO:0033063 Rad51B-Rad51C-Rad51D-XRCC
2 complex
IBA cellular_component
GO:0033065 Rad51C-XRCC3 complex
IDA cellular_component
GO:0042148 strand invasion
IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0071140 resolution of mitotic rec
ombination intermediates
IMP biological_process
GO:0090267 positive regulation of mi
totic cell cycle spindle
assembly checkpoint
IMP biological_process
GO:0090656 t-circle formation
IC biological_process
GO:0090656 t-circle formation
IMP biological_process
GO:0000400 four-way junction DNA bin
ding
IDA molecular_function
GO:0008821 crossover junction endode
oxyribonuclease activity
IMP molecular_function
GO:0008821 crossover junction endode
oxyribonuclease activity
IMP molecular_function
GO:0000150 recombinase activity
IBA molecular_function
GO:0000707 meiotic DNA recombinase a
ssembly
IBA biological_process
GO:0000722 telomere maintenance via
recombination
IMP biological_process
GO:0000724 double-strand break repai
r via homologous recombin
ation
IMP biological_process
GO:0000731 DNA synthesis involved in
DNA repair
TAS biological_process
GO:0000732 strand displacement
TAS biological_process
GO:0000784 nuclear chromosome, telom
eric region
IC cellular_component
GO:0003690 double-stranded DNA bindi
ng
IBA molecular_function
GO:0003697 single-stranded DNA bindi
ng
IBA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005657 replication fork
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0006281 DNA repair
IGI biological_process
GO:0006281 DNA repair
TAS biological_process
GO:0006310 DNA recombination
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
TAS biological_process
GO:0007131 reciprocal meiotic recomb
ination
IBA biological_process
GO:0008094 DNA-dependent ATPase acti
vity
IBA molecular_function
GO:0010212 response to ionizing radi
ation
IBA biological_process
GO:0010824 regulation of centrosome
duplication
IMP biological_process
GO:0033063 Rad51B-Rad51C-Rad51D-XRCC
2 complex
IBA cellular_component
GO:0033065 Rad51C-XRCC3 complex
IDA cellular_component
GO:0042148 strand invasion
IBA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0071140 resolution of mitotic rec
ombination intermediates
IMP biological_process
GO:0090267 positive regulation of mi
totic cell cycle spindle
assembly checkpoint
IMP biological_process
GO:0090656 t-circle formation
IC biological_process
GO:0090656 t-circle formation
IMP biological_process
GO:0000400 four-way junction DNA bin
ding
IDA molecular_function
GO:0008821 crossover junction endode
oxyribonuclease activity
IMP molecular_function
GO:0008821 crossover junction endode
oxyribonuclease activity
IMP molecular_function

KEGG pathways

hsa03440  Homologous recombination

Diseases

Associated diseases References
Breast cancer OMIM: 600675
Endometriosis PMID: 24615029
Ovarian cancer INFBASE24615029
Endometriosis INFBASE24615029
Melanoma OMIM: 600675
Neural tube defects PMID: 15887293

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24615029 Endometrio
sis
(XRCC1 codons 194 and 399, XPD codons 312 and 751, and XRCC3 codon 241), (BLHX codon 443)
212 (72 patient
s with endometr
iosis, 70 with
ovarian cancer,
and 70 healthy
individuals (c
ontrols))
BLMH
XRCC1
XRCC3
Show abstract