Tag Content
SG ID
SG00000425 
UniProt Accession
Theoretical PI
6.02  
Molecular Weight
69477 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
XRCC1 
Gene Synonyms/Alias
 
Protein Name
DNA repair protein XRCC1 
Protein Synonyms/Alias
X-ray repair cross-complementing protein 1; 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:19;44047464-44079730;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
The XPD and XRCC1 polymorphisms contributed to the risk of developing idiopathic azoospermia in a selected Chinese population 
The information of related literatures
1. A. H. Gu, J. Liang, N. X. Lu, B. Wu, Y. K. Xia, C. C. Lu, L. Song, S. L. Wang and X. R. Wang (2007) Association of XRCC1 gene polymorphisms with idiopathic azoospermia in a Chinese population. Asian J Androl 9(6): 781-6. 

Abstract
AIM PMID: [17968463] 

2. A. Gu, G. Ji, J. Liang, Y. Xia, N. Lu, B. Wu, W. Wang, L. Song, S. Wang and X. Wang (2007) DNA repair gene XRCC1 and XPD polymorphisms and the risk of idiopathic azoospermia in a Chinese population. Int J Mol Med 20(5): 743-7. 

Abstract
Genetic polymorphisms in DNA repair genes may influence individual variation in DNA repair capacity and further influence the risk of developing cancer. However, little information is available on these polymorphisms in infertility. To investigate whether polymorphisms in DNA repair genes, X-ray repair cross-complementing group 1 (XRCC1) and xeroderma pigmentosum group D (XPD), alone or in combination, are associated with the risk of developing idiopathic azoospermia, the genotype and allele frequencies of three observed polymorphisms (XRCC1 Arg194Trp and Arg399Gln, and XPD Lys751Gln) were examined by polymerase chain reaction-restriction fragment length polymorphism based on a Chinese population consisting of 171 idiopathic azoospermia patients and 247 normal-spermatogenesis fertile controls. Associations between the polymorphisms and the idiopathic azoospermia risk were estimated by logistic regression, and the Statistical analysis system was used to test the gene-gene joint effects. All observed polymorphisms were in agreement with Hardy-Weinberg equilibrium. The XPD 751Gln allele seemed to be a risk allele for azoospermia, with a frequency of 11.40% in the cases and 5.67% in the controls (p=0.004). Compared with the Lys/Lys genotype, the XPD 751 Lys/ increased 5.100- or 3.064-fold, respectively, when combined with the XRCC1 194 Arg/Arg or 399 Arg/Arg genotype. In conclusion, our study provided the first evidence that the XPD and XRCC1 polymorphisms contributed to the risk of developing idiopathic azoospermia in a selected Chinese population. PMID: [17912469] 

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Figures for illustrating the function of this protein/gene
Function
Corrects defective DNA strand-break repair and sisterchromatid exchange following treatment with ionizing radiation andalkylating agents. 
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Subcellular Location
Nucleus. Note=Accumulates at sites of DNAdamage. 
Tissue Specificity
 
Gene Ontology
GO IDGO termEvidence
GO:0005654 C:nucleoplasm TAS:Reactome.
GO:0003684 F:damaged DNA binding IEA:InterPro.
GO:0006284 P:base-excision repair TAS:Reactome.
GO:0042493 P:response to drug IEA:Compara.
GO:0001666 P:response to hypoxia IEA:Compara.
GO:0010033 P:response to organic substance IEA:Compara.
GO:0000012 P:single strand break repair IEA:InterPro.
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Interpro
IPR001357;    BRCT_dom.
IPR008979;    Galactose-bd-like.
IPR002706;    Xrcc1_N.
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Pfam
PF00533;    BRCT;    2.
PF01834;    XRCC1_N;    1.
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SMART
SM00292;    BRCT;    2.
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PROSITE
PS50172;    BRCT;    2.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    633       DNA repair protein XRCC1.
                             /FTId=PRO_0000066044.
DOMAIN      315    403       BRCT 1.
DOMAIN      538    629       BRCT 2.
MOD_RES     198    198       Phosphothreonine.
MOD_RES     199    199       Phosphoserine.
MOD_RES     211    211       Phosphotyrosine.
MOD_RES     226    226       Phosphoserine.
MOD_RES     241    241       Phosphoserine.
MOD_RES     257    257       Phosphothreonine.
MOD_RES     259    259       Phosphoserine.
MOD_RES     266    266       Phosphoserine.
MOD_RES     371    371       Phosphoserine; by PRKDC.
MOD_RES     408    408       Phosphoserine.
MOD_RES     409    409       Phosphoserine.
MOD_RES     410    410       Phosphoserine.
MOD_RES     416    416       Phosphoserine.
MOD_RES     418    418       Phosphoserine.
MOD_RES     421    421       Phosphoserine.
MOD_RES     446    446       Phosphoserine.
MOD_RES     447    447       Phosphoserine.
MOD_RES     453    453       Phosphothreonine.
MOD_RES     457    457       Phosphothreonine.
MOD_RES     461    461       Phosphoserine.
MOD_RES     485    485       Phosphoserine.
MOD_RES     488    488       Phosphothreonine.
MOD_RES     518    518       Phosphoserine.
MOD_RES     519    519       Phosphothreonine.
MOD_RES     523    523       Phosphothreonine.
VARIANT       7      7       R -> L (in dbSNP:rs2307186).
                             /FTId=VAR_014773.
VARIANT      10     10       V -> M (in dbSNP:rs2307171).
                             /FTId=VAR_014774.
VARIANT      72     72       V -> A (in dbSNP:rs25496).
                             /FTId=VAR_016168.
VARIANT     107    107       R -> H (in dbSNP:rs2228487).
                             /FTId=VAR_029228.
VARIANT     157    157       E -> K (in dbSNP:rs2307180).
                             /FTId=VAR_014775.
VARIANT     161    161       P -> L (in dbSNP:rs2307191).
                             /FTId=VAR_014776.
VARIANT     194    194       R -> W (in dbSNP:rs1799782).
                             /FTId=VAR_013400.
VARIANT     280    280       R -> H (in dbSNP:rs25489).
                             /FTId=VAR_013401.
VARIANT     298    298       K -> N (in dbSNP:rs2307188).
                             /FTId=VAR_014777.
VARIANT     304    304       T -> A (in dbSNP:rs25490).
                             /FTId=VAR_018775.
VARIANT     309    309       P -> S (in dbSNP:rs25491).
                             /FTId=VAR_014778.
VARIANT     350    350       R -> W (in a colorectal cancer sample;
                             somatic mutation).
                             /FTId=VAR_036277.
VARIANT     399    399       R -> Q (in dbSNP:rs25487).
                             /FTId=VAR_011487.
VARIANT     485    485       S -> Y (in dbSNP:rs2307184).
                             /FTId=VAR_014779.
VARIANT     514    514       P -> L (in dbSNP:rs25474).
                             /FTId=VAR_016169.
VARIANT     559    559       R -> Q (in dbSNP:rs2307167).
                             /FTId=VAR_014780.
VARIANT     560    560       R -> W (in dbSNP:rs2307166).
                             /FTId=VAR_014781.
VARIANT     576    576       N -> S (in dbSNP:rs2307177).
                             /FTId=VAR_014782.
VARIANT     576    576       N -> Y (in dbSNP:rs2682557).
                             /FTId=VAR_061727.
HELIX         4      6
STRAND        7     12
HELIX        17     25
HELIX        28     36
TURN         37     39
STRAND       41     53
STRAND       57     64
STRAND       66     73
STRAND       75     77
HELIX        81     83
STRAND       85     93
HELIX        96    101
STRAND      108    111
HELIX       113    115
HELIX       118    121
STRAND      125    133
STRAND      138    140
STRAND      143    150
HELIX       313    316
TURN        317    319
STRAND      323    329
HELIX       334    344
STRAND      347    352
STRAND      359    366
HELIX       368    376
STRAND      379    382
HELIX       384    391
HELIX       398    401
STRAND      404    407
TURN        542    545
STRAND      547    550
HELIX       557    568
STRAND      582    585
HELIX       592    598
STRAND      605    607
HELIX       610    616
TURN        617    619
HELIX       624    627
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Nucleotide Sequence
Length: 2797 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 633 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
Gene Symbol Ref Databases
APEX1BioGRID 
APLFHPRD 
APTXBioGRID 
CHD1LBioGRID 
CHEK2MINT 
NCAPGBioGRID 
CSNK2A1HPRD 
CSNK2A2HPRD 
LIG3HPRD 
POLBHPRD 
_HPRD 
LIG3BioGRID 
OGG1HPRD 
OGG1BioGRID 
OGG1BioGRID 
OGG1BioGRID 
OGG1BioGRID 
OGG1BioGRID 
OGG1BioGRID 
H2AFXMINT 
NEIL1HPRD 
OGG1HPRD 
PARP1BioGRID 
PARP2BioGRID 
PCNABioGRID 
PNKPHPRD 
POLIMINT 
APTXBioGRID 
APEX1BioGRID 
APTXBioGRID 
TDP1MINT 
E6MINT 
E6MINT 
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MPGMINT 
APEX1HPRD 
APLFIntAct 
APTXHPRD 
BRCA1HPRD 
CCNOMINT 
CHEK2MINT 
LIG3BioGRID 
POLBBioGRID 
POLLMINT 
_BioGRID 
LIG3BioGRID 
FYNIntAct 
NEIL1BioGRID 
TP53BioGRID 
PARP1HPRD 
PARP2BioGRID 
PCNAHPRD 
PNKPBioGRID 
POLIMINT 
BRCA1HPRD 
_BioGRID 
APTXBioGRID 
APEX1HPRD 
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APTXHPRD 
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E6MINT 
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