ENSG00000113658


Homo sapiens

Features
Gene ID: ENSG00000113658
  
Biological name :SMAD5
  
Synonyms : Q99717 / SMAD5 / SMAD family member 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q31.1
Gene start: 136132845
Gene end: 136188747
  
Corresponding Affymetrix probe sets: 205187_at (Human Genome U133 Plus 2.0 Array)   205188_s_at (Human Genome U133 Plus 2.0 Array)   225219_at (Human Genome U133 Plus 2.0 Array)   225223_at (Human Genome U133 Plus 2.0 Array)   235451_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427330
Ensembl peptide - ENSP00000446474
Ensembl peptide - ENSP00000441954
Ensembl peptide - ENSP00000427650
Ensembl peptide - ENSP00000427474
Ensembl peptide - ENSP00000422954
Ensembl peptide - ENSP00000424279
Ensembl peptide - ENSP00000425749
Ensembl peptide - ENSP00000426696
NCBI entrez gene - 4090     See in Manteia.
OMIM - 603110
RefSeq - XM_017009470
RefSeq - NM_001001419
RefSeq - NM_001001420
RefSeq - NM_005903
RefSeq Peptide - NP_001001419
RefSeq Peptide - NP_001001420
RefSeq Peptide - NP_005894
swissprot - D6RIZ9
swissprot - D6R9D4
swissprot - D6RBB4
swissprot - H0YAM3
swissprot - H0YAK7
swissprot - Q68DB7
swissprot - Q99717
Ensembl - ENSG00000113658
  

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
 smad1ENSDARG00000027199Danio rerio
 smad5ENSDARG00000037238Danio rerio
 SMAD5ENSGALG00000006309Gallus gallus
 Smad5ENSMUSG00000021540Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SMAD1 / Q15797 / SMAD family member 1ENSG0000017036590
SMAD9 / O15198 / SMAD family member 9ENSG0000012069379
SMAD3 / P84022 / SMAD family member 3ENSG0000016694961
SMAD2 / Q15796 / SMAD family member 2ENSG0000017538761
SMAD4 / Q13485 / SMAD family member 4ENSG0000014164639
SMAD6 / O43541 / SMAD family member 6ENSG0000013783425
SMAD7 / O15105 / SMAD family member 7ENSG0000010166524


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)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0001880 Mullerian duct regression IEA
 biological_processGO:0002051 osteoblast fate commitment IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway NAS
 biological_processGO:0007281 germ cell development IEA
 biological_processGO:0009880 embryonic pattern specification ISS
 biological_processGO:0030218 erythrocyte differentiation IEA
 biological_processGO:0030509 BMP signaling pathway TAS
 biological_processGO:0045669 positive regulation of osteoblast differentiation IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated NAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0060048 cardiac muscle contraction IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060395 SMAD protein signal transduction NAS
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071773 cellular response to BMP stimulus IEA
 biological_processGO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus TAS
 cellular_componentGO:0005622 intracellular NAS
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0071141 SMAD protein complex NAS
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005057 obsolete signal transducer activity, downstream of receptor NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017151 DEAD/H-box RNA helicase binding IPI
 molecular_functionGO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP


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  / reaction / complex
 ENSG00000138696 BMPR1B / O00238 / bone morphogenetic protein receptor type 1B  / reaction / complex
 ENSG00000101665 SMAD7 / O15105 / SMAD family member 7  / complex / reaction
 ENSG00000137834 SMAD6 / O43541 / SMAD family member 6  / reaction / complex
 ENSG00000141646 SMAD4 / Q13485 / SMAD family member 4  / reaction / complex
 ENSG00000039319 Q7Z3T8 / ZFYVE16 / zinc finger FYVE-type containing 16  / complex / reaction
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / complex / reaction
 ENSG00000204217 BMPR2 / Q13873 / bone morphogenetic protein receptor type 2  / reaction / complex
 ENSG00000107779 BMPR1A / P36894 / bone morphogenetic protein receptor type 1A  / reaction / complex
 ENSG00000125845 BMP2 / P12643 / bone morphogenetic protein 2  / reaction / complex
 ENSG00000157933 SKI / P12755 / SKI proto-oncogene  / complex / reaction
 ENSG00000113658 SMAD5 / Q99717 / SMAD family member 5  / reaction / complex
 ENSG00000120693 SMAD9 / O15198 / SMAD family member 9  / complex / reaction
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / complex / reaction






 

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