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

Gene ID: 4086, updated on 4-Jan-2025

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; AllianceGenome:HGNC:6767
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:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (145480770..145559176)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (148798276..148874991)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 15727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15730 Neighboring gene SMAD1 antisense RNA 2 Neighboring gene MPRA-validated peak5131 silencer Neighboring gene SMAD1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146487383-146487884 Neighboring gene uncharacterized LOC285422 Neighboring gene long intergenic non-protein coding RNA 2491

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DEAD/H-box RNA helicase binding PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
enables DNA-binding transcription factor activity PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables DNA-binding transcription factor activity, RNA polymerase II-specific PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables I-SMAD binding  
enables I-SMAD binding PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding PubMed 
enables co-SMAD binding PubMed 
enables identical protein binding PubMed 
enables metal ion binding  
enables primary miRNA binding  
enables protein binding PubMed 
enables protein kinase binding PubMed 
enables ubiquitin protein ligase binding PubMed 
Items 1 - 25 of 48
Process Evidence Code Pubs
involved_in BMP signaling pathway  
involved_in BMP signaling pathway PubMed 
involved_in BMP signaling pathway PubMed 
involved_in BMP signaling pathway  
involved_in BMP signaling pathway PubMed 
involved_in DNA-templated transcription PubMed 
involved_in MAPK cascade  
involved_in SMAD protein signal transduction  
involved_in SMAD protein signal transduction PubMed 
involved_in SMAD protein signal transduction PubMed 
involved_in SMAD protein signal transduction  
involved_in SMAD protein signal transduction PubMed 
involved_in anatomical structure morphogenesis  
involved_in bone development  
involved_in cardiac conduction system development PubMed 
involved_in cardiac muscle cell proliferation  
involved_in cartilage development  
involved_in cell differentiation  
involved_in cellular response to organic cyclic compound  
involved_in embryonic pattern specification  
involved_in gamete generation  
involved_in hindbrain development  
involved_in homeostatic process  
involved_in inflammatory response  
involved_in mesodermal cell fate commitment  
involved_in midbrain development  
involved_in negative regulation of cell population proliferation  
involved_in negative regulation of muscle cell differentiation  
involved_in ossification PubMed 
involved_in osteoblast differentiation PubMed 
involved_in osteoblast fate commitment  
involved_in positive regulation of cartilage development  
involved_in positive regulation of dendrite development PubMed 
involved_in positive regulation of gene expression  
involved_in positive regulation of miRNA transcription  
involved_in positive regulation of osteoblast differentiation  
involved_in positive regulation of sprouting angiogenesis PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II  
involved_in primary miRNA processing PubMed 
involved_in regulation of transcription by RNA polymerase II  
involved_in signal transduction PubMed 
involved_in stem cell differentiation  
involved_in transcription by RNA polymerase II  
involved_in transforming growth factor beta receptor signaling pathway  
involved_in transforming growth factor beta receptor signaling pathway PubMed 
involved_in transforming growth factor beta receptor signaling pathway PubMed 
involved_in ureteric bud development  
Items 1 - 25 of 48
Component Evidence Code Pubs
part_of SMAD protein complex PubMed 
is_active_in chromatin PubMed 
located_in chromatin  
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in cytosol  
part_of heteromeric SMAD protein complex  
part_of heteromeric SMAD protein complex PubMed 
part_of homomeric SMAD protein complex PubMed 
is_active_in male germ cell nucleus PubMed 
located_in membrane PubMed 
located_in nuclear inner membrane PubMed 
located_in nucleoplasm  
located_in nucleus PubMed 
located_in nucleus  
located_in nucleus PubMed 
located_in nucleus PubMed 
part_of protein-containing complex 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
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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
    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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
    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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
    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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
    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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
    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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
    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    145480770..145559176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415690.1XP_047271646.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  2. XM_011531964.3XP_011530266.1  mothers against decapentaplegic homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011530266.1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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. XM_047415688.1XP_047271644.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  4. XM_011531962.3XP_011530264.1  mothers against decapentaplegic homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011530264.1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
    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. XM_047415691.1XP_047271647.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  6. XM_047415689.1XP_047271645.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    148798276..148874991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350026.1XP_054206001.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  2. XM_054350028.1XP_054206003.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  3. XM_054350022.1XP_054205997.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  4. XM_054350023.1XP_054205998.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  5. XM_054350025.1XP_054206000.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  6. XM_054350027.1XP_054206002.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
  7. XM_054350024.1XP_054205999.1  mothers against decapentaplegic homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    A8KAJ0, D3DNZ9, Q15797, Q16636, Q9UFT8
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