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

Gene ID: 4086, updated on 6-May-2021

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
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Genomic context

See SMAD1 in Genome Data Viewer
Location:
4q31.21
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (145481306..145559176)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146402458..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 Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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)

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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
    5055..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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
  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
    PRK10263
    Location:133244
    PRK10263; DNA translocase FtsK; Provisional
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