ENSG00000170365


Homo sapiens

Features
Gene ID: ENSG00000170365
  
Biological name :SMAD1
  
Synonyms : Q15797 / SMAD1 / SMAD family member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q31.21
Gene start: 145481194
Gene end: 145558079
  
Corresponding Affymetrix probe sets: 208015_at (Human Genome U133 Plus 2.0 Array)   210993_s_at (Human Genome U133 Plus 2.0 Array)   227798_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421601
Ensembl peptide - ENSP00000377652
Ensembl peptide - ENSP00000422706
Ensembl peptide - ENSP00000427002
Ensembl peptide - ENSP00000426568
Ensembl peptide - ENSP00000425270
Ensembl peptide - ENSP00000424959
Ensembl peptide - ENSP00000424649
Ensembl peptide - ENSP00000305769
NCBI entrez gene - 4086     See in Manteia.
OMIM - 601595
RefSeq - XM_011531964
RefSeq - NM_001003688
RefSeq - NM_005900
RefSeq - XM_005262992
RefSeq - XM_006714217
RefSeq - XM_011531961
RefSeq - XM_011531962
RefSeq - XM_011531963
RefSeq Peptide - NP_001003688
RefSeq Peptide - NP_001341740
RefSeq Peptide - NP_001341741
RefSeq Peptide - NP_001341742
RefSeq Peptide - NP_001341743
RefSeq Peptide - NP_001341745
RefSeq Peptide - NP_001341746
RefSeq Peptide - NP_005891
swissprot - D6REQ3
swissprot - D6RDN7
swissprot - D6RD62
swissprot - D6RBH9
swissprot - D6RAY1
swissprot - Q15797
swissprot - A0A1D5RMR4
Ensembl - ENSG00000170365
  

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
 SMAD1ENSGALG00000009977Gallus gallus
 Smad1ENSMUSG00000031681Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SMAD5 / Q99717 / SMAD family member 5ENSG0000011365890
SMAD9 / O15198 / SMAD family member 9ENSG0000012069381
SMAD2 / Q15796 / SMAD family member 2ENSG0000017538761
SMAD3 / P84022 / SMAD family member 3ENSG0000016694960
SMAD4 / Q13485 / SMAD family member 4ENSG0000014164639
SMAD6 / O43541 / SMAD family member 6ENSG0000013783425
SMAD7 / O15105 / SMAD family member 7ENSG0000010166523


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:0000165 MAPK cascade IEA
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0001710 mesodermal cell fate commitment 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:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway NAS
 biological_processGO:0007183 SMAD protein complex assembly IDA
 biological_processGO:0007276 gamete generation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0009880 embryonic pattern specification ISS
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0030509 BMP signaling pathway IEA
 biological_processGO:0030901 midbrain development IEA
 biological_processGO:0030902 hindbrain development IEA
 biological_processGO:0031053 primary miRNA processing TAS
 biological_processGO:0042592 homeostatic process IEA
 biological_processGO:0045669 positive regulation of osteoblast differentiation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0060038 cardiac muscle cell proliferation IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060395 SMAD protein signal transduction IEA
 biological_processGO:0061036 positive regulation of cartilage development IEA
 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 IEA
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IEA
 biological_processGO:1903672 positive regulation of sprouting angiogenesis IMP
 cellular_componentGO:0005622 intracellular NAS
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005637 nuclear inner membrane IDA
 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: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:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 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:0019901 protein kinase binding IPI
 molecular_functionGO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0070410 co-SMAD binding IPI
 molecular_functionGO:0070411 I-SMAD binding IPI
 molecular_functionGO:0070878 primary miRNA binding IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP
Ub-specific processing proteases
RUNX2 regulates bone development


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
 ENSG00000138696 BMPR1B / O00238 / bone morphogenetic protein receptor type 1B  / reaction / complex
 ENSG00000101665 SMAD7 / O15105 / SMAD family member 7  / reaction / complex
 ENSG00000137834 SMAD6 / O43541 / SMAD family member 6  / reaction / complex
 ENSG00000067955 CBFB / Q13951 / core-binding factor beta subunit  / complex / reaction
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / reaction / complex
 ENSG00000141646 SMAD4 / Q13485 / SMAD family member 4  / complex / reaction
 ENSG00000120693 SMAD9 / O15198 / SMAD family member 9  / complex / reaction
 ENSG00000039319 Q7Z3T8 / ZFYVE16 / zinc finger FYVE-type containing 16  / reaction / complex
 ENSG00000124813 RUNX2 / Q13950 / runt related transcription factor 2  / complex / reaction
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / reaction / complex
 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  / reaction / complex
 ENSG00000157933 SKI / P12755 / SKI proto-oncogene  / complex / reaction
 ENSG00000113658 SMAD5 / Q99717 / SMAD family member 5  / complex / reaction






 

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