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

Gene ID: 4086, updated on 14-Jun-2018
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; Vega:OTTHUMG00000161592
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
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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

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 factor activity IDA
Inferred from Direct Assay
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 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
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 
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
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
 
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 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
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 
intracellular 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
 
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

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, OTTHUMP00000221520, ENST00000394092.6, OTTHUMT00000367780
    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_005900.2NP_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, BU163870, CB956339, U59423
    Consensus CDS
    CCDS3765.1
    UniProtKB/Swiss-Prot
    Q15797
    Related
    ENSP00000305769.4, OTTHUMP00000220455, ENST00000302085.8, OTTHUMT00000365466
    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 details...Open this link in a new tab

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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