ENSG00000073050


Homo sapiens

Features
Gene ID: ENSG00000073050
  
Biological name :XRCC1
  
Synonyms : P18887 / X-ray repair cross complementing 1 / XRCC1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.31
Gene start: 43543040
Gene end: 43580473
  
Corresponding Affymetrix probe sets: 203655_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000443671
Ensembl peptide - ENSP00000470045
Ensembl peptide - ENSP00000470391
Ensembl peptide - ENSP00000471159
Ensembl peptide - ENSP00000472128
Ensembl peptide - ENSP00000262887
NCBI entrez gene - 7515     See in Manteia.
OMIM - 194360
RefSeq - NM_006297
RefSeq Peptide - NP_006288
swissprot - P18887
swissprot - F5H8D7
swissprot - M0QYS5
swissprot - M0QZ96
swissprot - M0R0D2
swissprot - M0R1U8
Ensembl - ENSG00000073050
  
Related genetic diseases (OMIM): 617633 - ?Spinocerebellar ataxia, autosomal recessive 26, 617633
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 xrcc1ENSDARG00000009494Danio rerio
 Xrcc1ENSMUSG00000051768Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
L34079.1ENSG0000026836113
Q6ZNB5 / AP002495.1 / Putative short transient receptor potential channel 2-like protein ENSG000002544699


Protein motifs (from Interpro)
Interpro ID Name
 IPR001357  BRCT domain
 IPR002706  DNA-repair protein Xrcc1, N-terminal
 IPR008979  Galactose-binding-like domain superfamily
 IPR036420  BRCT domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000012 single strand break repair IEA
 biological_processGO:0000724 double-strand break repair via homologous recombination TAS
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair TAS
 biological_processGO:0006284 base-excision repair IEA
 biological_processGO:0006288 base-excision repair, DNA ligation TAS
 biological_processGO:0006297 nucleotide-excision repair, DNA gap filling TAS
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010836 negative regulation of protein ADP-ribosylation IMP
 biological_processGO:0021587 cerebellum morphogenesis IEA
 biological_processGO:0021766 hippocampus development IEA
 biological_processGO:0033194 response to hydroperoxide IDA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0050882 voluntary musculoskeletal movement IMP
 biological_processGO:0061819 telomeric DNA-containing double minutes formation IEA
 biological_processGO:1903518 positive regulation of single strand break repair IEA
 biological_processGO:1904877 positive regulation of DNA ligase activity IMP
 biological_processGO:1905765 negative regulation of protection from non-homologous end joining at telomere IEA
 biological_processGO:1990414 replication-born double-strand break repair via sister chromatid exchange IMP
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IEA
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0070522 ERCC4-ERCC1 complex IEA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0003909 DNA ligase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0032356 oxidized DNA binding IMP
 molecular_functionGO:1990599 3" overhang single-stranded DNA endodeoxyribonuclease activity IEA


Pathways (from Reactome)
Pathway description
Resolution of AP sites via the single-nucleotide replacement pathway
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
HDR through MMEJ (alt-NHEJ)
Gap-filling DNA repair synthesis and ligation in GG-NER
Gap-filling DNA repair synthesis and ligation in TC-NER


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000005156 LIG3 / P49916 / DNA ligase 3  / complex
 ENSG00000106628 POLD2 / P49005 / DNA polymerase delta 2, accessory subunit  / reaction
 ENSG00000175482 POLD4 / Q9HCU8 / DNA polymerase delta 4, accessory subunit  / reaction
 ENSG00000062822 POLD1 / P28340 / DNA polymerase delta 1, catalytic subunit  / reaction
 ENSG00000122008 POLK / Q9UBT6 / DNA polymerase kappa  / reaction
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / reaction
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / reaction
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / reaction
 ENSG00000077514 POLD3 / Q15054 / DNA polymerase delta 3, accessory subunit  / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000070501 POLB / P06746 / DNA polymerase beta  / reaction / complex
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / reaction / complex
 ENSG00000101773 RBBP8 / Q99708 / RB binding protein 8, endonuclease  / reaction / complex
 ENSG00000039650 PNKP / Q96T60 / polynucleotide kinase 3-phosphatase  / complex / reaction
 ENSG00000140398 NEIL1 / Q96FI4 / nei like DNA glycosylase 1  / complex / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction






 

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