ENSG00000101665


Homo sapiens
regulationSMAD7bindingtranscriptionfactorproteinsmadsignalingreceptortransforminggrowthbetapathwaydomaincellphosphorylationresponsecomplexactivitysuperfamilybmpcellularmorphogenesisventricularcardiacmuscledwarfin-typemadhomologymhrna

Features
Gene ID: ENSG00000101665
  
Biological name :SMAD7
  
Synonyms : O15105 / SMAD7 / SMAD family member 7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.1
Gene start: 48919853
Gene end: 48950711
  
Corresponding Affymetrix probe sets: 204790_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262158
Ensembl peptide - ENSP00000465590
Ensembl peptide - ENSP00000466902
Ensembl peptide - ENSP00000467621
NCBI entrez gene - 4092     See in Manteia.
OMIM - 602932
RefSeq - NM_001190821
RefSeq - NM_001190822
RefSeq - NM_005904
RefSeq Peptide - NP_001177750
RefSeq Peptide - NP_001177751
RefSeq Peptide - NP_005895
swissprot - O15105
swissprot - K7EKF0
Ensembl - ENSG00000101665
  
Related genetic diseases (OMIM): 612229 - {Colorectal cancer, susceptibility to, 3}, 612229

This gene has been taged as a transcription factor by TFT
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
 smad7ENSDARG00000016858Danio rerio
 ENSGALG00000037160Gallus gallus
 SMAD7BENSGALG00000029545Gallus gallus
 Smad7ENSMUSG00000025880Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SMAD6 / O43541 / SMAD family member 6ENSG0000013783450
SMAD9 / O15198 / SMAD family member 9ENSG0000012069327
SMAD5 / Q99717 / SMAD family member 5ENSG0000011365826
SMAD1 / Q15797 / SMAD family member 1ENSG0000017036526
SMAD2 / Q15796 / SMAD family member 2ENSG0000017538726
SMAD3 / P84022 / SMAD family member 3ENSG0000016694925
SMAD4 / Q13485 / SMAD family member 4ENSG0000014164624


Protein motifs (from Interpro)
Interpro ID Name
 IPR001132  SMAD domain, Dwarfin-type
 IPR003619  MAD homology 1, Dwarfin-type
 IPR008984  SMAD/FHA domain superfamily
 IPR013019  MAD homology, MH1
 IPR013790  Dwarfin
 IPR017855  SMAD-like domain superfamily
 IPR036578  SMAD MH1 domain superfamily


Gene Ontology (GO)
nitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processanatomical structure developmentimmune responseproduction of molecular mediator of immune responsecytokine productionimmune effector processcell communicationresponse to endogenous stimulusresponse to chemicalcellular response to stimuluscellular developmental processcell adhesionlocalization of cellmovement of cell or subcellular componentcatabolic processcellular component organizationcellular component biogenesisresponse to stressmacromolecule localizationcellular localizationprotein-containing complex localizationregulation of molecular functionregulation of biological qualitysystem processcell activationnitrnitrogen compound metabolic processbiosbiosynthetic processcellcellular metabolic processprimprimary metabolic processorgaorganic substance metabolic processanatanatomical structure developmentimmuimmune responseprodproduction of molecular mediator of immune responsecytocytokine productionimmuimmune effector processcellcell communicationrespresponse to endogenous stimulusrespresponse to chemicalcellcellular response to stimuluscellcellular developmental processcellcell adhesionlocalocalization of cellmovemovement of cell or subcellular componentcatacatabolic processcellcellular component organizationcellcellular component biogenesisrespresponse to stressmacrmacromolecule localizationcellcellular localizationprotprotein-containing complex localizationreguregulation of molecular functionreguregulation of biological qualitysystsystem processcellcell activation
organic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingprotein-containing complex bindingtransforming growth factor beta receptor, cytoplasmic mediator activityion bindingorganic cyclic compoorganic cyclic compound bindingheterocyclic compounheterocyclic compound bindingDNA-binding transcriDNA-binding transcription factor activityprotein bindingprotein bindingprotein-containing cprotein-containing complex bindingtransforming growth transforming growth factor beta receptor, cytoplasmic mediator activityion bindingion binding
cellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellorganellemembrane-enclosed lumenprotein-containing complexmembranecell junctioncellcellorganelleorganellemembrane-enclosed lumenmembrane-enclosed lumenprotein-containing compprotein-containing complexmembranemembranecell junctioncell junction
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0002725 negative regulation of T cell cytokine production ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0010717 regulation of epithelial to mesenchymal transition IMP
 biological_processGO:0010719 negative regulation of epithelial to mesenchymal transition TAS
 biological_processGO:0010801 negative regulation of peptidyl-threonine phosphorylation IDA
 biological_processGO:0010944 negative regulation of transcription by competitive promoter binding IDA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0017015 regulation of transforming growth factor beta receptor signaling pathway IC
 biological_processGO:0022409 positive regulation of cell-cell adhesion IDA
 biological_processGO:0030336 negative regulation of cell migration TAS
 biological_processGO:0030509 BMP signaling pathway TAS
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway TAS
 biological_processGO:0030514 negative regulation of BMP signaling pathway IDA
 biological_processGO:0031397 negative regulation of protein ubiquitination IDA
 biological_processGO:0031398 positive regulation of protein ubiquitination IDA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0032925 regulation of activin receptor signaling pathway IDA
 biological_processGO:0033137 negative regulation of peptidyl-serine phosphorylation IDA
 biological_processGO:0034333 adherens junction assembly IMP
 biological_processGO:0034616 response to laminar fluid shear stress IEP
 biological_processGO:0034629 cellular protein-containing complex localization IDA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II TAS
 biological_processGO:0048844 artery morphogenesis ISS
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0051444 negative regulation of ubiquitin-protein transferase activity IDA
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis ISS
 biological_processGO:0055117 regulation of cardiac muscle contraction ISS
 biological_processGO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization IC
 biological_processGO:0060389 pathway-restricted SMAD protein phosphorylation ISS
 biological_processGO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation TAS
 biological_processGO:0060412 ventricular septum morphogenesis ISS
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IMP
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 biological_processGO:2000317 negative regulation of T-helper 17 type immune response ISS
 biological_processGO:2000320 negative regulation of T-helper 17 cell differentiation ISS
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005913 cell-cell adherens junction IDA
 cellular_componentGO:0016342 catenin complex IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005518 collagen binding IEA
 molecular_functionGO:0008013 beta-catenin binding IPI
 molecular_functionGO:0030617 transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity IDA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0034713 type I transforming growth factor beta receptor binding IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048185 activin binding IPI
 molecular_functionGO:0070411 I-SMAD binding IPI


Pathways (from Reactome)
Pathway description
Signaling by BMP
Downregulation of TGF-beta receptor signaling
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
UCH proteinases
Ub-specific processing proteases


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000121989 ACVR2A / P27037 / activin A receptor type 2A  / complex / reaction
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000049759 NEDD4L / Q96PU5 / neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase  / complex / reaction
 ENSG00000138696 BMPR1B / O00238 / bone morphogenetic protein receptor type 1B  / complex / reaction
 ENSG00000023734 STRAP / Q9Y3F4 / serine/threonine kinase receptor associated protein  / complex / reaction
 ENSG00000087074 O75807 / PPP1R15A / protein phosphatase 1 regulatory subunit 15A  / complex / reaction
 ENSG00000105329 TGFB1 / P01137 / transforming growth factor beta 1  / complex / reaction
 ENSG00000163513 P37173 / TGFBR2 / transforming growth factor beta receptor 2  / complex / reaction
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / complex / reaction
 ENSG00000172531 P62136 / PPP1CA / protein phosphatase 1 catalytic subunit alpha  / complex / reaction
 ENSG00000213639 P62140 / PPP1CB / protein phosphatase 1 catalytic subunit beta  / complex / reaction
 ENSG00000186298 P36873 / PPP1CC / protein phosphatase 1 catalytic subunit gamma  / complex / reaction
 ENSG00000120693 SMAD9 / O15198 / SMAD family member 9  / complex / reaction
 ENSG00000198742 Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1  / complex / reaction
 ENSG00000106799 P36897 / TGFBR1 / transforming growth factor beta receptor 1  / complex / reaction
 ENSG00000095739 BAMBI / Q13145 / BMP and activin membrane bound inhibitor  / complex / reaction
 ENSG00000113658 SMAD5 / Q99717 / SMAD family member 5  / complex / reaction
 ENSG00000157077 O95405 / ZFYVE9 / zinc finger FYVE-type containing 9  / complex / reaction
 ENSG00000135655 USP15 / Q9Y4E8 / ubiquitin specific peptidase 15  / complex / reaction
 ENSG00000157450 Q6ZNA4 / RNF111 / ring finger protein 111  / complex / reaction
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / complex / reaction
 ENSG00000116750 UCHL5 / Q9Y5K5 / ubiquitin C-terminal hydrolase L5  / complex / reaction
 ENSG00000204217 BMPR2 / Q13873 / bone morphogenetic protein receptor type 2  / complex / reaction
 ENSG00000107779 BMPR1A / P36894 / bone morphogenetic protein receptor type 1A  / complex / reaction
 ENSG00000125845 BMP2 / P12643 / bone morphogenetic protein 2  / complex / reaction
 ENSG00000082898 XPO1 / O14980 / exportin 1  / complex / reaction






 

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