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SMAD1 Gene(Protein Coding)

SMAD Family Member 1

GCID:
GC04P145481
GIFtS:
50
Genes Participants
UDN Logo

Aliases for SMAD1 Gene

Aliases for SMAD1 Gene

  • SMAD Family Member 1 2 3 4 5
  • Mothers Against Decapentaplegic Homolog 1 3 4
  • 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
  • SMAD 1 4
  • HSMAD1 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 Buschke-Ollendorff Syndrome and Osteopoikilosis. Among its related pathways are Transcriptional misregulation in cancer and Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein kinase binding. An important paralog of this gene is SMAD5.

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

Additional gene information for SMAD1 Gene

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

Genomics for SMAD1 Gene

GeneHancer (GH) Regulatory Elements for SMAD1 Gene

Promoters and enhancers for SMAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J145481 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 1000.6 +2.1 2107 6.2 ZNF652 CEBPG SP7 PRDM1 GLIS2 PKNOX1 POLR2A ZIC2 RNF2 ZNF488 SMAD1 SMAD1-AS2
GH04J145275 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.5 -202.8 -202788 6 CBFA2T2 MAFK TRIM24 SMARCA4 SP7 KLF14 CREM ZBED1 POLR2A DPF2 SMAD1 RPS23P4 LINC02266
GH04J145523 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 11.7 +44.3 44268 3.1 ZBTB8A ZNF316 SMAD1 SMAD1-AS1 LOC285422
GH04J145538 Enhancer 0.9 Ensembl ENCODE dbSUPER 12 +59.5 59470 4.1 ZNF600 ATF7 SCRT2 ATF2 PRDM6 SMAD1-AS1 SMAD1-AS2 SMAD1 LOC285422
GH04J145530 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.9 +51.2 51211 3.6 POLR2A MAFK ZNF121 SMAD1-AS2 SMAD1 OTUD4 MMAA SMAD1-AS1 LOC285422
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMAD1 gene promoter:
  • C/EBPalpha
  • Nkx2-5

Genomic Locations for SMAD1 Gene

Genomic Locations for SMAD1 Gene
chr4:145,481,194-145,559,176
(GRCh38/hg38)
Size:
77,983 bases
Orientation:
Plus strand
chr4:146,402,346-146,480,328
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for SMAD1 Gene

Proteins for SMAD1 Gene

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  • 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). Interacts (via MH1 and MH2 domains) with ZNF8 (By similarity). Interacts with RANBP3L; the interaction increases when SMAD1 is not phosphorylated and mediates SMAD1 nuclear export (PubMed:25755279).

    Three dimensional structures from OCA and Proteopedia for SMAD1 Gene

    Alternative splice isoforms for SMAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMAD1 Gene

Protein Expression for SMAD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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. Dephosphorylation, probably by PPM1A, induces its export from the nucleus to the cytoplasm (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMAD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SMAD1 Gene

Domains & Families for SMAD1 Gene

Gene Families for SMAD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SMAD1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMAD1 Gene

GenScript: Design optimal peptide antigens:
  • Transforming growth factor-beta-signaling protein 1 (SMAD1_HUMAN)

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.
Family:
  • Belongs to the dwarfin/SMAD family.
genes like me logo Genes that share domains with SMAD1: view

Function for SMAD1 Gene

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  2. CRISPR
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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.

Phenotypes From GWAS Catalog for SMAD1 Gene

Gene Ontology (GO) - Molecular Function for SMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA,IEA 12270938
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 12270938
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IDA 9389648
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD1

Clone Products

  • Applied Biological Materials (abm): Clones for SMAD1 - Now 50% OFF >
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  • * SMAD1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids 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). Exported from the nucleus to the cytoplasm when dephosphorylated (By similarity). {ECO:0000250 UniProtKB:P70340, ECO:0000269 PubMed:15647271}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMAD1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS --
GO:0005634 nucleus NAS,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 & Interactions for SMAD1 Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with SMAD1: view

SIGNOR curated interactions for SMAD1 Gene

Activates:
Is activated by:
Is inactivated by:

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:0002051 osteoblast fate commitment IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SMAD1: view

Drugs & Compounds for SMAD1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pirfenidone Approved, Investigational Pharma Antifibrotic agent; regulates cytokine levels in vivo, TGF-β production inhibitor 74
LDN193189 Hydrochloride Pharma ALK inhibitor,potent and selective 0
LY364947 Pharma 0
RepSox Pharma Potent and selective inhibitor of TGF-betaRI, ALK5 inhibitor,potent and selective 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for SMAD1 Gene

Compound Action Cas Number
LDN193189 Hydrochloride ALK inhibitor,potent and selective 1062368-62-0
LY364947 396129-53-6
Pirfenidone TGF-β production inhibitor 53179-13-8
RepSox ALK5 inhibitor,potent and selective 446859-33-2
genes like me logo Genes that share compounds with SMAD1: view

Drug Products

Transcripts for SMAD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SMAD1 Gene

(8) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(237) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SMAD1 Gene

SMAD family member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD1

Clone Products

  • Applied Biological Materials (abm): Clones for SMAD1 - Now 50% OFF >
  • * SMAD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SMAD1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for SMAD1

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

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMAD1 Gene

mRNA expression in normal human tissues for SMAD1 Gene
mRNA expression by GTEx for SMAD1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SMAD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMAD1 Gene:

SMAD1

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.

Evidence on tissue expression from TISSUES for SMAD1 Gene

  • Kidney(4.2)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with SMAD1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35
  • 100 (a)
 OneToOne
SMAD1 34
  • 99.78 (n)
oppossum
(Monodelphis domestica)
 Mammalia SMAD1 35
  • 99 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SMAD1 35
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SMAD1 35 34
  • 94.62 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SMAD1 35 34
  • 91.76 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Smad1 17 35 34
  • 88.96 (n)
rat
(Rattus norvegicus)
 Mammalia Smad1 34
  • 87.81 (n)
chicken
(Gallus gallus)
 Aves SMAD1 35 34
  • 83.73 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SMAD1 35
  • 98 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia smad1 34
  • 83.41 (n)
Str.8919 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.87 34
zebrafish
(Danio rerio)
 Actinopterygii smad1 35 34
  • 76.36 (n)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta Mad 35 34
  • 67.13 (n)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008551 34
  • 66.59 (n)
worm
(Caenorhabditis elegans)
 Secernentea sma-2 35
  • 56 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8058 35
  • 56 (a)
 OneToOne
Species where no ortholog for SMAD1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SMAD1: view image

Paralogs for SMAD1 Gene

Paralogs for SMAD1 Gene

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

  • SMAD1_HUMAN
  • D6RAY1_HUMAN
  • D6RBH9_HUMAN
  • D6RD62_HUMAN
  • D6RDN7_HUMAN
  • D6REQ3_HUMAN
genes like me logo Genes that share paralogs with SMAD1: view

Variants for SMAD1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay
Varelect - NGS phenotyyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for SMAD1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs587777018 uncertain-significance, Variant of unknown significance, Primary pulmonary hypertension 145,514,621(+) T/C coding_sequence_variant, missense_variant
rs1000047752 -- 145,554,312(+) C/A intron_variant
rs1000079756 -- 145,528,473(+) C/T intron_variant
rs1000098599 -- 145,551,194(+) A/G intron_variant
rs1000105832 -- 145,506,133(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv128e180 CNV loss 20482838
dgv900n67 CNV loss 20364138
dgv9299n54 CNV gain 21841781
dgv9300n54 CNV loss 21841781
dgv981e199 CNV deletion 23128226
esv1000240 CNV deletion 20482838
esv1540098 CNV deletion 17803354
esv2662386 CNV deletion 23128226
esv2728491 CNV deletion 23290073
esv2728492 CNV deletion 23290073
esv28792 CNV loss 19812545
esv3298273 CNV deletion 24192839
esv3564752 CNV deletion 23714750
esv3602561 CNV loss 21293372
esv3602562 CNV loss 21293372
nsv1074222 CNV deletion 25765185
nsv1126699 CNV deletion 24896259
nsv511241 CNV loss 21212237
nsv513171 CNV loss 21212237
nsv595621 CNV loss 21841781
nsv595623 CNV gain+loss 21841781
nsv595625 CNV gain 21841781
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)

Additional Variant Information for SMAD1 Gene

Human Gene Mutation Database (HGMD)
SMAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMAD1

SNP Genotyping and Copy Number Assay Products

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

Disorders for SMAD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMAD1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
buschke-ollendorff syndrome
  • bos
osteopoikilosis
  • osteopathia condensans disseminata
- 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}.

Additional Disease Information for SMAD1

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

No data available for Genatlas for SMAD1 Gene

Publications for SMAD1 Gene

  1. Structural basis of Smad1 activation by receptor kinase phosphorylation. (PMID: 11779505) Qin BY … Lin K (Molecular cell 2001) 3 4 23 58
  2. The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase. (PMID: 9136927) Kretzschmar M … Massagué J (Genes & development 1997) 3 4 23 58
  3. MADR1, a MAD-related protein that functions in BMP2 signaling pathways. (PMID: 8653785) Hoodless PA … Wrana JL (Cell 1996) 2 3 4 58
  4. Mad-related genes in the human. (PMID: 8673135) Riggins GJ … Vogelstein B (Nature genetics 1996) 2 3 4 58
  5. A human Mad protein acting as a BMP-regulated transcriptional activator. (PMID: 8637600) Liu F … Massagué J (Nature 1996) 3 4 23 58

ExternalLinks

Products for SMAD1 Gene

  • Addgene plasmids for SMAD1

Sources for SMAD1 Gene

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