Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7515
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol XRCC1   Gene   UCSC   Ensembl
Aliases RCC
Gene name X-ray repair cross complementing 1
Alternate names DNA repair protein XRCC1, X-ray repair complementing defective repair in Chinese hamster cells 1, X-ray repair cross-complementing protein 1,
Gene location 19q13.31 (43575577: 43543311)     Exons: 17     NC_000019.10
Gene summary(Entrez) 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]
OMIM 194360

Protein Summary

Protein general information P18887  

Name: DNA repair protein XRCC1 (X ray repair cross complementing protein 1)

Length: 633  Mass: 69,477

Sequence MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDIGNDGSAFVEVLVGSS
AGGAGEQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAAAEKRWDRVKIVCSQPYSKDSPFGLSFVRFH
SPPDKDEAEAPSQKVTVTKLGQFRVKEEDESANSLRPGALFFSRINKTSPVTASDPAGPSYAAATLQASSAASSA
SPVSRAIGSTSKPQESPKGKRKLDLNQEEKKTPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPR
GEGTEPRRPRAGPEELGKILQGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHLICAFANTPKYSQVLG
LGGRIVRKEWVLDCHRMRRRLPSRRYLMAGPGSSSEEDEASHSGGSGDEAPKLPQKQPQTKTKPTQAAGPSSPQK
PPTPEETKAASPVLQEDIDIEGVQSEGQDNGAEDSGDTEDELRRVAEQKEHRLPPGQEENGEDPYAGSTDENTDS
EEHQEPPDLPVPELPDFFQGKHFFLYGEFPGDERRKLIRYVTAFNGELEDNMSDRVQFVITAQEWDPSFEEALMD
NPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA
Structural information
Protein Domains
BRCT (315-403)
BRCT (538-629)
Interpro:  IPR001357 IPR008979 IPR002706
Prosite:   PS50172

Pfam:  
PF00533 PF16589 PF01834
CDD:   cd00027

PDB:  
1CDZ 1XNA 1XNT 2D8M 2W3O 3K75 3K77 3LQC 5E6Q
PDBsum:   1CDZ 1XNA 1XNT 2D8M 2W3O 3K75 3K77 3LQC 5E6Q

DIP:  
39067
MINT:   245471
STRING:   ENSP00000262887;
Other Databases GeneCards:  XRCC1;  Malacards:  XRCC1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000012 single strand break repai
r
IEA biological_process
GO:0000724 double-strand break repai
r via homologous recombin
ation
TAS biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0003684 damaged DNA binding
IEA molecular_function
GO:0003909 DNA ligase activity
TAS molecular_function
GO:0003909 DNA ligase activity
TAS 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: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: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
IBA 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:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006283 transcription-coupled nuc
leotide-excision repair
TAS biological_process
GO:0006284 base-excision repair
IBA biological_process
GO:0006288 base-excision repair, DNA
ligation
TAS biological_process
GO:0006297 nucleotide-excision repai
r, DNA gap filling
TAS biological_process
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0000012 single strand break repai
r
IEA biological_process
GO:0000724 double-strand break repai
r via homologous recombin
ation
TAS biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0003684 damaged DNA binding
IEA molecular_function
GO:0003909 DNA ligase activity
TAS molecular_function
GO:0003909 DNA ligase activity
TAS 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: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: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
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IBA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA 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:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006281 DNA repair
IEA biological_process
GO:0006283 transcription-coupled nuc
leotide-excision repair
TAS biological_process
GO:0006284 base-excision repair
IEA biological_process
GO:0006284 base-excision repair
IBA biological_process
GO:0006288 base-excision repair, DNA
ligation
TAS biological_process
GO:0006297 nucleotide-excision repai
r, DNA gap filling
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0019899 enzyme binding
IPI molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0000724 double-strand break repai
r via homologous recombin
ation
TAS biological_process
GO:0003909 DNA ligase activity
TAS molecular_function
GO:0003909 DNA ligase activity
TAS 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: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: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
IBA 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:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006283 transcription-coupled nuc
leotide-excision repair
TAS biological_process
GO:0006284 base-excision repair
IBA biological_process
GO:0006288 base-excision repair, DNA
ligation
TAS biological_process
GO:0006297 nucleotide-excision repai
r, DNA gap filling
TAS biological_process
GO:0019899 enzyme binding
IPI molecular_function

KEGG pathways

hsa03410  Base excision repair

Diseases

Associated diseases References
Alzheimer's disease PMID: 17385092
Apoplexy PMID: 17087834
Azoospermia PMID: 17912469
Cancer PMID: 18320070
Cataract PMID: 17637462
Endometrial cancer PMID: 22053659
Endometriosis PMID: 18442016
Glaucoma PMID: 17242676
Idiopathic azoospermia PMID: 17912469
Ovarian cancer INFBASE24615029
Endometriosis INFBASE18442016
Male infertility PMID: 20395310
Neural tube defects PMID: 15887293
Rheumatoid arthritis PMID: 16284769
Sarcoma PMID: 15459223
Schizophrenia PMID: 17961713
Varicocele PMID: 19062002

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
22084859 Endometrio
sis
XRCC1 107*AA/AG/GG, XRCC1 194*TT/TC/CC, HOGG1*CC/CG/GG, KCNQ2*AA/AC/CCC and AT1R*AA/AC/CC
248 (136 endome
triosis, 112 no
n- endometriosi
s)
XRCC1
hOGG1
KCNQ2
AT1R
Show abstract
18442016 Endometrio
sis
XRCC1 (R399Q)
241 (141 women
in endometriosi
s group, 100 no
n-endometriosis
group)
XRCC1
Show abstract