ENSG00000137337


Homo sapiens

Features
Gene ID: ENSG00000137337
  
Biological name :MDC1
  
Synonyms : MDC1 / mediator of DNA damage checkpoint 1 / Q14676
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.33
Gene start: 30699807
Gene end: 30717889
  
Corresponding Affymetrix probe sets: 203061_s_at (Human Genome U133 Plus 2.0 Array)   203062_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000365588
Ensembl peptide - ENSP00000400979
Ensembl peptide - ENSP00000396989
Ensembl peptide - ENSP00000483601
Ensembl peptide - ENSP00000411310
Ensembl peptide - ENSP00000408962
NCBI entrez gene - 9656     See in Manteia.
OMIM - 607593
RefSeq - XM_017011522
RefSeq - XM_005249497
RefSeq - XM_005249498
RefSeq - XM_011515001
RefSeq - XM_011515003
RefSeq - XM_011515004
RefSeq - XM_017011519
RefSeq - XM_017011520
RefSeq - XM_017011521
RefSeq - NM_014641
RefSeq - XM_005249492
RefSeq - XM_005249493
RefSeq - XM_005249494
RefSeq Peptide - NP_055456
swissprot - A2AB06
swissprot - A2AB05
swissprot - A0A1U9XBC1
swissprot - H0Y6Z8
swissprot - A0A087X0R2
swissprot - A2AB07
swissprot - Q14676
Ensembl - ENSG00000137337
  
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
 mdc1ENSDARG00000086764Danio rerio
 Mdc1ENSMUSG00000061607Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PAXIP1 / Q6ZW49 / PAX interacting protein 1ENSG000001572127


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
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0031573 intra-S DNA damage checkpoint TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome ISS
 cellular_componentGO:0005925 focal adhesion IDA
 cellular_componentGO:0016604 nuclear body IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0070975 FHA domain binding IPI


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)
Processing of DNA double-strand break ends
TP53 Regulates Transcription of DNA Repair Genes
G2/M DNA damage checkpoint


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000011485 PPP5C / P53041 / protein phosphatase 5 catalytic subunit  / reaction
 ENSG00000127663 KDM4B / O94953 / lysine demethylase 4B  / reaction / complex
 ENSG00000080345 RIF1 / Q5UIP0 / replication timing regulatory factor 1  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / complex / reaction
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction / complex
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / reaction / complex
 ENSG00000183765 CHEK2 / O96017 / checkpoint kinase 2  / reaction / complex
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / reaction / complex
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / reaction / complex
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / complex / reaction
 ENSG00000163322 Q6UWZ7 / ABRAXAS1 / abraxas 1, BRCA1 A complex subunit  / reaction / complex
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / reaction / complex
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / complex / reaction
 ENSG00000066135 KDM4A / O75164 / lysine demethylase 4A  / complex / reaction
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / reaction / complex
 ENSG00000157212 PAXIP1 / Q6ZW49 / PAX interacting protein 1  / complex / reaction
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / reaction / complex
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / complex / reaction
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / complex
 ENSG00000184900 SUMO3 / P55854 / small ubiquitin-like modifier 3  / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction
 ENSG00000087206 UIMC1 / Q96RL1 / ubiquitin interaction motif containing 1  / reaction / complex






 

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