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    SMAD1 SMAD family member 1 [ Homo sapiens (human) ]

    Gene ID: 4086, updated on 15-Apr-2019

    Summary

    Official Symbol
    SMAD1provided by HGNC
    Official Full Name
    SMAD family member 1provided by HGNC
    Primary source
    HGNC:HGNC:6767
    See related
    Ensembl:ENSG00000170365 MIM:601595
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BSP1; JV41; BSP-1; JV4-1; MADH1; MADR1
    Summary
    The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 11.3), brain (RPKM 9.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See SMAD1 in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (145481306..145559176)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146402951..146480328)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene reticulon 3 pseudogene 1 Neighboring gene NMNAT1 pseudogene 4 Neighboring gene SMAD1 antisense RNA 2 Neighboring gene SMAD1 antisense RNA 1 Neighboring gene uncharacterized LOC285422 Neighboring gene long intergenic non-protein coding RNA 2491

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat-treated pulmonary arterial smooth muscle cells modulate levels of phosphorylated SMAD1/5/8 proteins and SMAD1/5/8-SMAD4 protein complex, which are repressed by cocaine exposure PubMed
    Vif vif HIV-1 Vif upregulates the expression of SMAD family member 1 (SMAD1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DEAD/H-box RNA helicase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    co-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    primary miRNA binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    SMAD protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SMAD protein signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    bone development IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gamete generation IEA
    Inferred from Electronic Annotation
    more info
     
    hindbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    homeostatic process IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    mesodermal cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    midbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of pri-miRNA transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    primary miRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    SMAD protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 1
    Names
    MAD, mothers against decapentaplegic homolog 1
    Mad-related protein 1
    SMAD, mothers against DPP homolog 1
    TGF-beta signaling protein 1
    mothers against DPP homolog 1
    transforming growth factor-beta signaling protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042284.1 RefSeqGene

      Range
      5001..82378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003688.1NP_001003688.1  mothers against decapentaplegic homolog 1

      See identical proteins and their annotated locations for NP_001003688.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All eight variants encode the same protein.
      Source sequence(s)
      BC001878, BE644607, BI772689, BI792941, CB956339, U59912
      Consensus CDS
      CCDS3765.1
      UniProtKB/Swiss-Prot
      Q15797
      Related
      ENSP00000377652.2, ENST00000394092.6
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    2. NM_001354811.1NP_001341740.1  mothers against decapentaplegic homolog 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. All eight variants encode the same protein.
      Source sequence(s)
      AC093796
      Consensus CDS
      CCDS3765.1
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    3. NM_001354812.1NP_001341741.1  mothers against decapentaplegic homolog 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. All eight variants encode the same protein.
      Source sequence(s)
      AC093796
      Consensus CDS
      CCDS3765.1
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    4. NM_001354813.1NP_001341742.1  mothers against decapentaplegic homolog 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 3. All eight variants encode the same protein.
      Source sequence(s)
      AC093796
      Consensus CDS
      CCDS3765.1
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    5. NM_001354814.1NP_001341743.1  mothers against decapentaplegic homolog 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 3. All eight variants encode the same protein.
      Source sequence(s)
      AC093796
      Consensus CDS
      CCDS3765.1
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    6. NM_001354816.1NP_001341745.1  mothers against decapentaplegic homolog 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 3. All eight variants encode the same protein.
      Source sequence(s)
      AC093796
      Consensus CDS
      CCDS3765.1
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    7. NM_001354817.1NP_001341746.1  mothers against decapentaplegic homolog 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 3. All eight variants encode the same protein.
      Source sequence(s)
      AC093796, AK293055
      Consensus CDS
      CCDS3765.1
      Related
      ENSP00000426568.1, ENST00000515385.1
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    8. NM_005900.3NP_005891.1  mothers against decapentaplegic homolog 1

      See identical proteins and their annotated locations for NP_005891.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All eight variants encode the same protein.
      Source sequence(s)
      BC001878, BE644607, BI772689, BI792941, BQ962660, CB956339, U59423
      Consensus CDS
      CCDS3765.1
      UniProtKB/Swiss-Prot
      Q15797
      Related
      ENSP00000305769.4, ENST00000302085.9
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      145481306..145559176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531964.2XP_011530266.1  mothers against decapentaplegic homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011530266.1

      UniProtKB/Swiss-Prot
      Q15797
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    2. XM_011531962.2XP_011530264.1  mothers against decapentaplegic homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011530264.1

      UniProtKB/Swiss-Prot
      Q15797
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      cl28087
      Location:133244
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
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