Endometriosis Knowledgebase

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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 accession	Term name	Evidence code	Go 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	Population details	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 107AA/AG/GG, XRCC1 194TT/TC/CC, HOGG1CC/CG/GG, KCNQ2AA/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