ENSMUSG00000051768


Mus musculus

Features
Gene ID: ENSMUSG00000051768
  
Biological name :Xrcc1
  
Synonyms : Q60596 / X-ray repair complementing defective repair in Chinese hamster cells 1 / Xrcc1
  
Possible biological names infered from orthology : P18887 / X-ray repair cross complementing 1
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: A3
Gene start: 24546289
Gene end: 24573440
  
Corresponding Affymetrix probe sets: 10550935 (MoGene1.0st)   1416587_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000070995
Ensembl peptide - ENSMUSP00000146105
NCBI entrez gene - 22594     See in Manteia.
MGI - MGI:99137
RefSeq - XM_017322131
RefSeq - NM_009532
RefSeq - XM_006539738
RefSeq - XM_011250480
RefSeq Peptide - NP_033558
swissprot - Q60596
Ensembl - ENSMUSG00000051768
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 xrcc1ENSDARG00000009494Danio rerio
 XRCC1ENSG00000073050Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Xndc1 / Xrcc1 N-terminal domain containing 1 / Q6ZNB5* / AP002495.1* / Putative short transient receptor potential channel 2-like protein *ENSMUSG0000009948114


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:0001666 response to hypoxia IEA
 biological_processGO:0006281 DNA repair IMP
 biological_processGO:0006284 base-excision repair IBA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining IMP
 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 IMP
 biological_processGO:0021766 hippocampus development IMP
 biological_processGO:0033194 response to hydroperoxide ISO
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0050882 voluntary musculoskeletal movement IMP
 biological_processGO:0061819 telomeric DNA-containing double minutes formation IMP
 biological_processGO:1903518 positive regulation of single strand break repair IGI
 biological_processGO:1904877 positive regulation of DNA ligase activity ISO
 biological_processGO:1905765 negative regulation of protection from non-homologous end joining at telomere IMP
 biological_processGO:1990414 replication-born double-strand break repair via sister chromatid exchange ISO
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0000790 nuclear chromatin ISO
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0070522 ERCC4-ERCC1 complex IDA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0019899 enzyme binding ISO
 molecular_functionGO:0032356 oxidized DNA binding ISO
 molecular_functionGO:1990599 3" overhang single-stranded DNA endodeoxyribonuclease activity IMP


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 TC-NER


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Trp53tm1Tyj/Trp53tm1Tyj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc4tm1Fwa/Xrcc4tm1Fwa
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0001685 abnormal endoderm development "failure or abnormality in the formation of the endoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc4tm1Fwa/Xrcc4tm1Fwa
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0001696 failure to gastrulate "inability to differentiate and invaginate the primary germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:34458]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc4tm1Fwa/Xrcc4tm1Fwa
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc4tm1Fwa/Xrcc4tm1Fwa
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc1tm1Rpe/Xrcc1tm1Rpe
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc4tm1Fwa/Xrcc4tm1Fwa
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Trp53tm1Tyj/Trp53tm1Tyj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Trp53tm1Tyj/Trp53+,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Trp53tm1Tyj/Trp53tm1Tyj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Themistm1.1Hko/Themis+
Genetic Background: Not Specified

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0003246 loss of GABA neurons "loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0004101 abnormal brain interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the brain; this includes most brain neuronal cell types" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0006283 medulloblastoma "a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin " [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Trp53tm1Tyj/Trp53+,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Trp53tm1Tyj/Trp53tm1Tyj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
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Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * FVB/N

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Trp53tm1Tyj/Trp53tm1Tyj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Xrcc1tm1Pmc/Xrcc1tm1Pmc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc1tm1Rpe/Xrcc1tm1Rpe
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ

 MP:0011097 complete embryonic lethality before turning of embryo "death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)" [MGI:csmith]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc4tm1Fwa/Xrcc4tm1Fwa
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Xrcc1tm1Pmc/Xrcc1tm1Pmc
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
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Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Xrcc1tm1Pmc/Xrcc1tm1Pmc
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031536 Polb / Q8K409 / polymerase (DNA directed), beta / P06746* / DNA polymerase beta*  / complex / reaction
 ENSMUSG00000041238 Rbbp8 / Q80YR6 / retinoblastoma binding protein 8, endonuclease / Q99708* / RB binding protein 8, endonuclease*  / complex / reaction
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / reaction / complex
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / reaction / complex
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / reaction / complex
 ENSMUSG00000032298 Neil1 / Q8K4Q6 / Endonuclease 8-like 1 / Q96FI4* / nei like DNA glycosylase 1*  / reaction / complex






 

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