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Aliases for SMAD1 Gene

Aliases for SMAD1 Gene

  • SMAD Family Member 1 2 3 4 5
  • Mothers Against DPP Homolog 1 3 4
  • Mad-Related Protein 1 3 4
  • MADH1 3 4
  • BSP-1 3 4
  • JV4-1 3 4
  • MADR1 3 4
  • BSP1 3 4
  • MAD, Mothers Against Decapentaplegic Homolog 1 (Drosophila) 2
  • Transforming Growth Factor-Beta Signaling Protein 1 3
  • Transforming Growth Factor-Beta-Signaling Protein 1 4
  • SMAD, Mothers Against DPP Homolog 1 (Drosophila) 2
  • MAD, Mothers Against Decapentaplegic Homolog 1 3
  • SMAD, Mothers Against DPP Homolog 1 3
  • TGF-Beta Signaling Protein 1 3
  • MAD Homolog 1 4
  • HsMAD1 4
  • SMAD 1 4
  • SMAD1 4
  • JV41 3

External Ids for SMAD1 Gene

Previous HGNC Symbols for SMAD1 Gene

  • MADH1

Previous GeneCards Identifiers for SMAD1 Gene

  • GC07U990134
  • GC04P146981
  • GC04P146760
  • GC04P146622
  • GC04P146402
  • GC04P142134

Summaries for SMAD1 Gene

Entrez Gene Summary for SMAD1 Gene

  • 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]

GeneCards Summary for SMAD1 Gene

SMAD1 (SMAD Family Member 1) is a Protein Coding gene. Diseases associated with SMAD1 include charcot-marie-tooth disease, type 2d and neuropathy, distal hereditary motor, type va. Among its related pathways are Signaling by GPCR and ErbB1 downstream signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein kinase binding. An important paralog of this gene is SMAD2.

UniProtKB/Swiss-Prot for SMAD1 Gene

  • Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.

Gene Wiki entry for SMAD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD1 Gene

Genomics for SMAD1 Gene

Regulatory Elements for SMAD1 Gene

Genomic Location for SMAD1 Gene

Chromosome:
4
Start:
145,481,194 bp from pter
End:
145,559,176 bp from pter
Size:
77,983 bases
Orientation:
Plus strand

Genomic View for SMAD1 Gene

Genes around SMAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAD1 Gene

Proteins for SMAD1 Gene

  • Protein details for SMAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15797-SMAD1_HUMAN
    Recommended name:
    Mothers against decapentaplegic homolog 1
    Protein Accession:
    Q15797
    Secondary Accessions:
    • A8KAJ0
    • D3DNZ9
    • Q16636
    • Q9UFT8

    Protein attributes for SMAD1 Gene

    Size:
    465 amino acids
    Molecular mass:
    52260 Da
    Quaternary structure:
    • Found in a complex with SMAD4 and YY1. Interacts with HGS, NANOG and ZCCHC12 (By similarity). Upon C-terminus phosphorylation: forms trimers with another SMAD1 and the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit, CREB-binding protein (CBP), p300, SMURF1, SMURF2, USP15 and HOXC8. Associates with ZNF423 or ZNF521 in response to BMP2 leading to activate transcription of BMP target genes. Interacts with SKOR1. Interacts (via MH2 domain) with LEMD3. Binding to LEMD3 results in at least a partial reduction of receptor-mediated phosphorylation. Forms a ternary complex with PSMB4 and OAZ1 before PSMB4 is incorporated into the 20S proteasome. Found in a macromolecular complex with FAM83G. Interacts (via MH2 domain) with FAM83G (via MH2 domain); in a SMAD4-independent manner. Interacts with ZC3H3 (By similarity). Interacts with TMEM119 (By similarity).

    Three dimensional structures from OCA and Proteopedia for SMAD1 Gene

    Alternative splice isoforms for SMAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMAD1 Gene

Proteomics data for SMAD1 Gene at MOPED

Post-translational modifications for SMAD1 Gene

  • Phosphorylation of the C-terminal SVS motif by BMP type 1 receptor kinase activates SMAD1 by promoting dissociation from the receptor and trimerization with SMAD4.
  • Ubiquitinated by SMAD-specific E3 ubiquitin ligase SMURF1, leading to its degradation. Monoubiquitinated, leading to prevent DNA-binding. Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SMAD1 Gene

Domains & Families for SMAD1 Gene

Gene Families for SMAD1 Gene

Suggested Antigen Peptide Sequences for SMAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15797

UniProtKB/Swiss-Prot:

SMAD1_HUMAN :
  • The MH2 domain mediates phosphorylation-dependent trimerization through L3 loop binding of phosphoserines in the adjacent subunit.
  • Belongs to the dwarfin/SMAD family.
Domain:
  • The MH2 domain mediates phosphorylation-dependent trimerization through L3 loop binding of phosphoserines in the adjacent subunit.
  • Contains 1 MH1 (MAD homology 1) domain.
  • Contains 1 MH2 (MAD homology 2) domain.
Family:
  • Belongs to the dwarfin/SMAD family.
genes like me logo Genes that share domains with SMAD1: view

Function for SMAD1 Gene

Molecular function for SMAD1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.

Gene Ontology (GO) - Molecular Function for SMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12270938
GO:0005515 protein binding IEA,IPI 9436979
GO:0070410 co-SMAD binding IPI 9111321
genes like me logo Genes that share ontologies with SMAD1: view
genes like me logo Genes that share phenotypes with SMAD1: view

Animal Models for SMAD1 Gene

MGI Knock Outs for SMAD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SMAD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMAD1 Gene

Localization for SMAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAD1 Gene

Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4 (PubMed:15647271). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15647271). {ECO:0000269 PubMed:15647271}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMAD1 Gene COMPARTMENTS Subcellular localization image for SMAD1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SMAD1: view

Pathways & Interactions for SMAD1 Gene

genes like me logo Genes that share pathways with SMAD1: view

SIGNOR curated interactions for SMAD1 Gene

Gene Ontology (GO) - Biological Process for SMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0001657 ureteric bud development IEA --
GO:0001710 mesodermal cell fate commitment IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with SMAD1: view

Drugs & Compounds for SMAD1 Gene

(8) Drugs for SMAD1 Gene - From: Novoseek and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pirfenidone Investigational Pharma TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo 42
LDN193189 Hydrochloride Pharma ALK inhibitor,potent and selective 0
LY364947 Pharma Selective inhibitor of TGF-betaRI 0
RepSox Pharma ALK5 inhibitor,potent and selective 0

(2) Additional Compounds for SMAD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SMAD1: view

Transcripts for SMAD1 Gene

Unigene Clusters for SMAD1 Gene

SMAD family member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMAD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: -
SP6: -
SP7:
SP8: - - - - - -
SP9: - - - - -
SP10: - -
SP11: -
SP12:

Relevant External Links for SMAD1 Gene

GeneLoc Exon Structure for
SMAD1
ECgene alternative splicing isoforms for
SMAD1

Expression for SMAD1 Gene

mRNA expression in normal human tissues for SMAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMAD1 Gene

This gene is overexpressed in Liver (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMAD1 Gene



SOURCE GeneReport for Unigene cluster for SMAD1 Gene Hs.604588

mRNA Expression by UniProt/SwissProt for SMAD1 Gene

Q15797-SMAD1_HUMAN
Tissue specificity: Ubiquitous. Highest expression seen in the heart and skeletal muscle.
genes like me logo Genes that share expression patterns with SMAD1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for SMAD1 Gene

Orthologs for SMAD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MADH1 36
  • 100 (a)
OneToOne
SMAD1 35
  • 99.78 (n)
  • 99.78 (a)
cow
(Bos Taurus)
Mammalia SMAD1 35
  • 91.76 (n)
  • 99.57 (a)
SMAD1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMAD1 36
  • 99 (a)
OneToOne
SMAD1 35
  • 94.62 (n)
  • 99.35 (a)
mouse
(Mus musculus)
Mammalia Smad1 36
  • 99 (a)
OneToOne
Smad1 16
Smad1 35
  • 88.96 (n)
  • 99.14 (a)
oppossum
(Monodelphis domestica)
Mammalia SMAD1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMAD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smad1 35
  • 87.81 (n)
  • 98.49 (a)
chicken
(Gallus gallus)
Aves SMAD1 35
  • 83.73 (n)
  • 97.2 (a)
SMAD1 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAD1 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.87 35
tropical clawed frog
(Silurana tropicalis)
Amphibia smad1 35
  • 83.41 (n)
  • 96.12 (a)
Str.8919 35
zebrafish
(Danio rerio)
Actinopterygii smad1 36
  • 88 (a)
ManyToMany
smad1 35
  • 76.36 (n)
  • 89.87 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008551 35
  • 66.59 (n)
  • 80.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mad 36
  • 66 (a)
ManyToMany
Mad 35
  • 67.13 (n)
  • 80.65 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-2 36
  • 56 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8058 36
  • 56 (a)
OneToOne
Species with no ortholog for SMAD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMAD1 Gene

ENSEMBL:
Gene Tree for SMAD1 (if available)
TreeFam:
Gene Tree for SMAD1 (if available)

Paralogs for SMAD1 Gene

Paralogs for SMAD1 Gene

(8) SIMAP similar genes for SMAD1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SMAD1: view

Variants for SMAD1 Gene

Sequence variations from dbSNP and Humsavar for SMAD1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_066869 -
rs11416 -- 145,557,955(+) TGCCT(C/T)TGGAA utr-variant-3-prime
rs15392 -- 145,558,959(-) AACAG(A/G)GTTAC utr-variant-3-prime
rs920261 -- 145,541,993(-) AATGA(A/G)TCAGT intron-variant
rs714195 -- 145,524,528(-) TTGGC(A/G)ATAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMAD1 Gene

Variant ID Type Subtype PubMed ID
nsv880237 CNV Gain 21882294
esv1000240 CNV Deletion 20482838
nsv511241 CNV Loss 21212237
nsv513171 CNV Loss 21212237
dgv981e199 CNV Deletion 23128226
dgv900n67 CNV Loss 20364138
dgv128e180 CNV Loss 20482838
esv2728491 CNV Deletion 23290073
esv1540098 CNV Deletion 17803354
esv28792 CNV Loss 19812545
esv2728492 CNV Deletion 23290073
esv2662386 CNV Deletion 23128226
nsv822763 CNV Loss 20364138

Variation tolerance for SMAD1 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMAD1 Gene

HapMap Linkage Disequilibrium report
SMAD1
Human Gene Mutation Database (HGMD)
SMAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD1 Gene

Disorders for SMAD1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SMAD1 Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2d
  • charcot-marie-tooth disease type 2d
neuropathy, distal hereditary motor, type va
  • distal spinal muscular atrophy, type v
melorheostosis
buschke-ollendorff syndrome
  • osteopoikilosis
hereditary hemorrhagic telangiectasia
  • osler hemorrhagic telangiectasia syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SMAD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SMAD1_HUMAN
  • Note=SMAD1 variants may be associated with susceptibility to pulmonary hypertension, a disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269 PubMed:21898662}.

Relevant External Links for SMAD1

Genetic Association Database (GAD)
SMAD1
Human Genome Epidemiology (HuGE) Navigator
SMAD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMAD1
genes like me logo Genes that share disorders with SMAD1: view

No data available for Genatlas for SMAD1 Gene

Publications for SMAD1 Gene

  1. Mad-related genes in the human. (PMID: 8673135) Riggins G.J. … Vogelstein B.V. (Nat. Genet. 1996) 2 3 4 67
  2. Bone morphogenic protein 2 induces Runx2 and osteopontin expression in human aortic valve interstitial cells: role of Smad1 and extracellular signal-regulated kinase 1/2. (PMID: 19664780) Yang X. … Fullerton D.A. (J. Thorac. Cardiovasc. Surg. 2009) 3 23
  3. Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. (PMID: 18684712) Fukuda T. … Katagiri T. (J. Biol. Chem. 2009) 3 23
  4. Bone morphogenetic proteins induce pancreatic cancer cell invasiveness through a Smad1-dependent mechanism that involves matrix metalloproteinase-2. (PMID: 19056927) Gordon K.J. … Blobe G.C. (Carcinogenesis 2009) 3 23
  5. Transforming Growth Factor {beta} Can Stimulate Smad1 Phosphorylation Independently of Bone Morphogenic Protein Receptors. (PMID: 19224917) Wrighton K.H. … Feng X.H. (J. Biol. Chem. 2009) 3 23

Products for SMAD1 Gene

Sources for SMAD1 Gene

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