ENSMUSG00000061607


Mus musculus

Features
Gene ID: ENSMUSG00000061607
  
Biological name :Mdc1
  
Synonyms : Mdc1
  
Possible biological names infered from orthology : mediator of DNA damage checkpoint 1 / Q14676
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: B1
Gene start: 35841515
Gene end: 35859670
  
Corresponding Affymetrix probe sets: 10444911 (MoGene1.0st)   1434837_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000133568
Ensembl peptide - ENSMUSP00000153197
Ensembl peptide - ENSMUSP00000080949
NCBI entrez gene - 240087     See in Manteia.
MGI - MGI:3525201
RefSeq - XM_006524264
RefSeq - XM_006524260
RefSeq - XM_006524261
RefSeq - XM_006524262
RefSeq - XM_006524263
RefSeq - NM_001010833
RefSeq Peptide - NP_001010833
swissprot - G3UX64
swissprot - A0A286YCY4
swissprot - E9QK89
Ensembl - ENSMUSG00000061607
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mdc1ENSDARG00000086764Danio rerio
 MDC1ENSG00000137337Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Paxip1 / Q6NZQ4 / PAX-interacting protein 1 / Q6ZW49*ENSMUSG000000022218


Protein motifs (from Interpro)
Interpro ID Name
 IPR000253  Forkhead-associated (FHA) domain
 IPR001357  BRCT domain
 IPR008984  SMAD/FHA domain superfamily
 IPR036420  BRCT domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
SUMOylation of DNA damage response and repair proteins
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
G2/M DNA damage checkpoint


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0000692 small spleen "decreased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0000706 small thymus "reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0001153 small seminiferous tubules "reduced diameter of the tubules in the testes where spermatogenesis occurs" [J:50844]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 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: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0003992 increased mortality induced by ionizing radiation "greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0004029 spontaneous chromosome breakage "chromosome breakage due to inherent instability of chromosomes" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0004227 increased cellular sensitivity to ionizing radiation "increased incidence of cell death following exposure to high levels of ionizing radiation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0004816 abnormal class switch recombination "anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

 MP:0010948 abnormal double-strand DNA break repair "any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix" [GO:0006302]
Show

Allelic Composition: Faslpr/Faslpr,Tnfrsf13cBcmd1/Tnfrsf13c+
Genetic Background: MRL.Cg-Tnfrsf13cBcmd1 Faslpr

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000003099 Ppp5c / Q60676 / Serine/threonine-protein phosphatase 5 / P53041* / protein phosphatase 5 catalytic subunit*  / reaction
 ENSMUSG00000002221 Paxip1 / Q6NZQ4 / PAX-interacting protein 1 / Q6ZW49*  / reaction / complex
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / complex / reaction
 ENSMUSG00000014074 Q80XJ2 / Rnf168 / E3 ubiquitin-protein ligase RNF168 / Q8IYW5* / ring finger protein 168*  / reaction / complex
 ENSMUSG00000024201 Kdm4b / Q91VY5 / Lysine-specific demethylase 4B / O94953* / lysine demethylase 4B*  / complex / reaction
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / complex / reaction
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / complex / reaction
 ENSMUSG00000035234 Q8BPZ8 / Abraxas1 / BRCA1 A complex subunit / Q6UWZ7* / abraxas 1, BRCA1 A complex subunit*  / complex / reaction
 ENSMUSG00000026648 Q8K4J0 / Dclre1c / Protein artemis / Q96SD1* / DNA cross-link repair 1C*  / reaction / complex
 ENSMUSG00000049932 H2afx / P27661 / Histone H2AX / P16104* / H2A histone family member X*  / complex / reaction
 ENSMUSG00000033326 Kdm4a / Q8BW72 / Lysine-specific demethylase 4A / O75164* / AL451062.3* / lysine demethylase 4A*  / complex / reaction
 ENSMUSG00000057406 Nsd2 / Q8BVE8 / Histone-lysine N-methyltransferase NSD2 / O96028* / nuclear receptor binding SET domain protein 2*  / complex / reaction
 ENSMUSG00000029521 Chek2 / Q9Z265 / Serine/threonine-protein kinase Chk2 / O96017* / checkpoint kinase 2*  / reaction / complex
 ENSMUSG00000090083 Rnf8 / Q8VC56 / E3 ubiquitin-protein ligase RNF8 / O76064* / ring finger protein 8*  / reaction / complex
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / reaction / complex
 ENSMUSG00000015120 Ube2i / P63280 / ubiquitin-conjugating enzyme E2I / P63279*  / reaction
 ENSMUSG00000022674 Q9D2M8 / Ube2v2 / ubiquitin-conjugating enzyme E2 variant 2 / Q15819* / ubiquitin conjugating enzyme E2 V2*  / complex
 ENSMUSG00000061607 Mdc1 / Q14676* / mediator of DNA damage checkpoint 1*  / complex
 ENSMUSG00000043909 P70399 / Trp53bp1 / TP53-binding protein 1 / Q12888* / TP53BP1* / tumor protein p53 binding protein 1*  / complex / reaction
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / reaction / complex
 ENSMUSG00000024926 Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*  / reaction / complex
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / complex / reaction
 ENSMUSG00000030451 Herc2 / Q4U2R1 / E3 ubiquitin-protein ligase HERC2 / O95714* / HECT and RLD domain containing E3 ubiquitin protein ligase 2*  / reaction / complex
 ENSMUSG00000025878 Uimc1 / ubiquitin interaction motif containing 1 / Q96RL1*  / complex / reaction
 ENSMUSG00000098374 Gm28043 / RNF8* / O76064* / ring finger protein 8*  / complex / reaction
 ENSMUSG00000004934 Pias4 / Q9JM05 / protein inhibitor of activated STAT 4 / Q8N2W9*  / reaction / complex
 ENSMUSG00000036202 Rif1 / Q6PR54 / Telomere-associated protein RIF1 / Q5UIP0* / replication timing regulatory factor 1*  / reaction / complex
 ENSMUSG00000020265 Sumo3 / Q9Z172 / small ubiquitin-like modifier 3 / P55854*  / reaction






 

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