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Aliases for SMAD1 Gene

Aliases for SMAD1 Gene

  • SMAD Family Member 1 2 3 4
  • MADH1 3 4 6
  • MADR1 3 4 6
  • BSP1 3 4 6
  • Transforming Growth Factor-Beta-Signaling Protein 1 3 4
  • Mothers Against DPP Homolog 1 3 4
  • Mad-Related Protein 1 3 4
  • MAD Homolog 1 3 4
  • BSP-1 3 4
  • JV4-1 3 4
  • MAD, Mothers Against Decapentaplegic Homolog 1 (Drosophila) 2
  • Transforming Growth Factor-Beta Signaling Protein 1 3
  • SMAD, Mothers Against DPP Homolog 1 (Drosophila) 2
  • MAD, Mothers Against Decapentaplegic Homolog 1 3
  • Mothers Against Decapentaplegic Homolog 1 3
  • SMAD, Mothers Against DPP Homolog 1 3
  • TGF-Beta Signaling Protein 1 3
  • 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 ERK Signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMAD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    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.
  • Ubiquitination at Lys418
  • Modification sites at PhosphoSitePlus

Other Protein References for SMAD1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMAD1 (Smad1)

No data available for DME Specific Peptides for SMAD1 Gene

Domains for SMAD1 Gene

Gene Families for SMAD1 Gene

HGNC:

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 :
  • Q15797
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12270938
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 12270938
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 9389648
GO:0005057 receptor signaling protein activity NAS 10708949
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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMAD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. Co-localizes with LEMD3 at the nucleus inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMAD1 Gene COMPARTMENTS Subcellular localization image for SMAD1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 10647776
GO:0005634 nucleus TAS 19018011
GO:0005637 nuclear inner membrane IDA 15647271
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with SMAD1: view

Pathways for SMAD1 Gene

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

PCR Array Products

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:0001822 kidney development --
GO:0002051 osteoblast fate commitment IEA --
genes like me logo Genes that share ontologies with SMAD1: view

Compounds for SMAD1 Gene

(6) Novoseek inferred chemical compound relationships for SMAD1 Gene

Compound -log(P) Hits PubMed IDs
threonine 56.6 7
serine 46.6 10
monocrotaline 36.5 1
pd 98,059 19.7 1
tyrosine 11.7 5
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMAD1

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with SMAD1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 94.62 (n)
  • 99.35 (a)
SMAD1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smad1 35
  • 88.96 (n)
  • 99.14 (a)
Smad1 16
Smad1 36
  • 99 (a)
OneToOne
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 35
  • 76.36 (n)
  • 89.87 (a)
smad1 36
  • 88 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008551 35
  • 66.59 (n)
  • 80.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mad 35
  • 67.13 (n)
  • 80.65 (a)
Mad 36
  • 66 (a)
ManyToMany
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

Selected 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 MAF
rs11416 -- 145,557,955(+) TGCCT(C/T)TGGAA utr-variant-3-prime
rs15392 -- 145,558,959(-) AACAG(A/G)GTTAC utr-variant-3-prime
rs714195 -- 145,524,528(-) TTGGC(A/G)ATAGA intron-variant
rs763560 -- 145,516,239(-) ATTAC(A/G)TATTG intron-variant
rs768139 -- 145,490,038(+) AGAAG(A/T)AGTCA 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

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

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.

(6) Novoseek inferred disease relationships for SMAD1 Gene

Disease -log(P) Hits PubMed IDs
carcinoma embryonal 20.4 1
lymphoma follicular 15.4 1
pancreatic cancer 14 2
breast cancer 0 4
tumors 0 1

Relevant External Links for SMAD1

Genetic Association Database (GAD)
SMAD1
Human Genome Epidemiology (HuGE) Navigator
SMAD1
genes like me logo Genes that share disorders with SMAD1: view

Publications for SMAD1 Gene

  1. A human Mad protein acting as a BMP-regulated transcriptional activator. (PMID: 8637600) Liu F. … Massague J. (Nature 1996) 3 4 23
  2. Serine phosphorylation, chromosomal localization, and transforming growth factor-beta signal transduction by human bsp-1. (PMID: 8663601) Lechleider R.J. … Roberts A.B. (J. Biol. Chem. 1996) 3 4 23
  3. The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase. (PMID: 9136927) Kretzschmar M. … Massague J. (Genes Dev. 1997) 3 4 23
  4. Structural basis of Smad1 activation by receptor kinase phosphorylation. (PMID: 11779505) Qin B.Y. … Lin K. (Mol. Cell 2001) 3 4 23
  5. MADR1, a MAD-related protein that functions in BMP2 signaling pathways. (PMID: 8653785) Hoodless P.A. … Wrana J.L. (Cell 1996) 2 3 4

Products for SMAD1 Gene

  • Addgene plasmids for SMAD1

Sources for SMAD1 Gene

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