• Gene id: 7515

Gene Summary

• Gene Symbol: XRCC1   Gene   UCSC   Ensembl
• Aliases: RCC, SCAR26
• 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 t
• OMIM: 194360

SNPs

rs25487

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.43551574T>C
NC_000019.10   g.43551574T>G
NC_000019.9   g.44055726T>C
NC_000019.9   g.44055726T>G
NG_033799.1   g.29005A>G
NG_033799.1   g.29005A>C
NM_006297.3   c.1196A>G
NM_006297.3   c.1196A>C
NM_006297.2   c.1196A>G
NM_006297.2   c.1196A>C
NP_006288.  

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  IPR036420  IPR008979  IPR002706  
  • Prosite: PS50172
  • CDD: cd00027
  • PDB: 1CDZ 1XNA 1XNT 2D8M 2W3O 3K75 3K77 3LQC 5E6Q
  • PDBsum: 1CDZ 1XNA 1XNT 2D8M 2W3O 3K75 3K77 3LQC 5E6Q
  • DIP: 39067
  • STRING: ENSP00000262887
• Other Databases: GeneCards:  XRCC1  Malacards:  XRCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000012	single strand break repair	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	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 nucleotide-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 repair, DNA gap filling	TAS	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0000012	single strand break repair	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	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 nucleotide-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 repair, 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 substance	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	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 nucleotide-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 repair, DNA gap filling	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
Mesothelioma	GAD: 16564556
Brill-Symmers disease	GAD: 16492913
Cancer	GAD: 9542526
Cancer (Adenocarcinoma)	GAD: 19673050
Cancer (Adenoma)	GAD: 15767338
Cancer (basal cell)	GAD: 11782372
Cancer (Biliary tract neoplasms)	GAD: 17984110
Cancer (bladder)	GAD: 14688016
Soft tissue sarcoma	GAD: 15459223
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 15878910
Cancer (gastric)	GAD: 18713157
Cancer (glaucoma)	GAD: 17242676
Cancer (head and neck)	GAD: 20429839
Cancer (Hematologic)	GAD: 20226869
Cancer (Hepatocellular)	GAD: 18504145
Cancer (Hodgkin disease)	GAD: 15368334
Cancer (kidney)	GAD: 16510122
Cancer (laryngeal)	GAD: 18393249
Cancer (leiomyoma)	GAD: 19176223
Cancer (leukemia)	GAD: 16111035
Cancer (liver)	GAD: 15734960
Cancer (lung)	GAD: 15301704
Cancer (lymphoma)	GAD: 15104288
Cancer (melanoma)	GAD: 15709194
Cancer (meningioma)	GAD: 15824172
Cancer (nasopharyngeal)	GAD: 16796765
Cancer (non-melanoma skin cancer)	GAD: 15914210
Cancer (oral)	GAD: 16172217
Cancer (ovarian)	GAD: 17925548
Cancer (pancreatic)	GAD: 12183419
Cancer (Papilary)	GAD: 19286843
Cancer (prostate)	GAD: 14744728
Cancer (rectal)	GAD: 20504250
Cancer (Renal cell)	GAD: 17712032
Cancer (Squamous cell)	GAD: 18410587
Cancer (stomach)	GAD: 15802298
Cancer (thyroid)	GAD: 15555397
Cancer (transitional cell)	GAD: 18199464
Cancer (urinary bladder)	GAD: 18364571
Cancer (uterine cervical)	GAD: 19563645
Leukoplakia	GAD: 19634112
Cancer (brain)	GAD: 15313891
Cancer (Burkitt lymphoma)	GAD: 18608862
Cancer (cervical)	GAD: 15990162
Cancer (breast)	GAD: 14693738
Cancer (colorectal)	GAD: 11712813
Cancer (endometrial)	GAD: 16137195
Apoplexy	GAD: 17087834
Cardiovascular disease	GAD: 18043991
Carotid artery diseases	GAD: 19679847
Cystic fibrosis	GAD: 20140303
Neural tube defects	GAD: 15887293
Cleft defects	GAD: 20634891
Graves disease	GAD: 19711438
Macular degeneration	GAD: 20375340
Pterygium	GAD: 20431719
Glaucoma	GAD: 17242676
Neutropenia	GAD: 19074750
Hodgkin disease	GAD: 19280628
Arthritis	GAD: 16284769
Multiple sclerosis	GAD: 20522537
Systemic lupus erythematosus (SLE)	GAD: 18852222
Diabetes	GAD: 19514640
Alzheimer's disease	GAD: 17385092
Schizophrenia	GAD: 17961713
Chronic renal failure	GAD: 21085059
Preeclampsia	GAD: 19592152
Azoospermia	MIK: 17912469
Male factor infertility	MIK: 20395310
Varicocele	MIK: 19062002
Endometriosis	INFBASE: 18442016
Chronic obstructive pulmonary disease (COPD)	GAD: 19493423
Subcutaneous fibrosis	GAD: 16966185
Genomic Instability DNA repair	GAD: 17939032
Cataract	GAD: 17637462
Azoospermia	MIK: 17912469
Spermatogenic defects	MIK: 30744807
Male infertility	MIK: 20395310
Varicocele	MIK: 19062002

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17912469	Idiopathic azoospermia	XRCC1 Arg194Trp and Arg399Gln, XPD Lys751Gln	Chinese	418 (171 idiopathic azoospermia patients, 247 normal-spermatogenesis fertile controls)	Male infertility	XRCC1 XPD
20395310	Male infertility	XRCC1-399 polymorphism		893 (620 idiopathic infertile subjects, 273 fertile controls)	Male infertility	PAHs XRCC1
22868082	Idiopathic azoospermia	rs25487 of XRCC1	Han Chi nese	268 (112 patients with idiopathic azoospermia, 156 healthy controls)	Male infertility
17968463	Idiopathic azoospermia	XRCC1 T-77C and Arg194Trp, AA genotype of Arg399Gln	Chinese	418 (171 idiopathic azoospermia subjects, 247 normal-spermatogenesis controls)	Male infertility
17912469	Idiopathic azoospermia	XRCC1 Arg194Trp and Arg399Gln, and XPD Lys751Gln	Chinese	418 (171 idiopathic azoospermia patients, 247 normal-spermatogenesis fertile controls)	Male infertility
19062002	Varicocele, Male infertility			24 (8 infertile varicocele patients, 16 fertile volunteers)	Male infertility	PARP-1 poly(ADP-ribose) X-ray repair cross-complementing 1 and apurinic/apyrimidinic endonuclease 1] caspase 9 active caspase 3 and cleaved PARP-1
30744807	Impaired spermatogenesis, Male infertility			105 (80 infertile patients (30 azoospermia, 25 severe oligozoospermia, 25 severe oligoasthenozoospermia), 15 normal spermatogenesis, 10 fertile controls)	Male infertility