Homo sapiens Gene: SMAD1
Summary
InnateDB Gene IDBG-39936.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMAD1
Gene Name SMAD family member 1
Synonyms BSP-1; BSP1; JV4-1; JV41; MADH1; MADR1;
Species Homo sapiens
Ensembl Gene ENSG00000170365
Encoded Proteins
SMAD family member 1
SMAD family member 1
SMAD family member 1
SMAD family member 1
SMAD family member 1
SMAD family member 1
SMAD family member 1
SMAD family member 1
SMAD family member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:145481194-145558079
Strand Forward strand
Band q31.21
Transcripts
ENST00000302085 ENSP00000305769
ENST00000394092 ENSP00000377652
ENST00000514778 ENSP00000424959
ENST00000507594 ENSP00000424649
ENST00000514831 ENSP00000425270
ENST00000512019 ENSP00000427002
ENST00000503324 ENSP00000422706
ENST00000515527
ENST00000507367 ENSP00000421601
ENST00000515385 ENSP00000426568
ENST00000514168
ENST00000506626
ENST00000502342
ENST00000511125
ENST00000510948
ENST00000511255
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 268 experimentally validated interaction(s) in this database.
They are also associated with 36 interaction(s) predicted by orthology.
Experimentally validated
Total 268 [view]
Protein-Protein 259 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 5 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 36 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005057 receptor signaling protein activity
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0070410 co-SMAD binding
GO:0070411 I-SMAD binding
Biological Process
GO:0000165 MAPK cascade
GO:0001657 ureteric bud development
GO:0001710 mesodermal cell fate commitment
GO:0001822 kidney development
GO:0002051 osteoblast fate commitment
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006468 protein phosphorylation
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007183 SMAD protein complex assembly
GO:0007276 gamete generation
GO:0008285 negative regulation of cell proliferation
GO:0009880 embryonic pattern specification
GO:0010243 response to organonitrogen compound
GO:0010628 positive regulation of gene expression
GO:0010656 negative regulation of muscle cell apoptotic process
GO:0030509 BMP signaling pathway
GO:0030901 midbrain development
GO:0030902 hindbrain development
GO:0031053 primary miRNA processing
GO:0042060 wound healing
GO:0042493 response to drug
GO:0042592 homeostatic process
GO:0045597 positive regulation of cell differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050775 positive regulation of dendrite morphogenesis
GO:0051216 cartilage development
GO:0060038 cardiac muscle cell proliferation
GO:0060348 bone development
GO:0061036 positive regulation of cartilage development
GO:0071407 cellular response to organic cyclic compound
GO:0071773 cellular response to BMP stimulus
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016021 integral component of membrane
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Notch pathway
Wnt pathway
Hedgehog pathway
REACTOME
Signal Transduction pathway
Signaling by BMP pathway
KEGG
TGF-beta signaling pathway pathway
INOH
TGF-beta signaling pathway
BMP2 signaling pathway
LIF signaling pathway
PID BIOCARTA
Ctcf: first multivalent nuclear factor [Biocarta view]
Alk in cardiac myocytes [Biocarta view]
PID NCI
BMP receptor signaling
ErbB1 downstream signaling
Cross-References
SwissProt
TrEMBL D6RAY1 D6RBH9
UniProt Splice Variant
Entrez Gene 4086
UniGene Hs.604588 Hs.672078
RefSeq NM_005900 NM_001003688 XM_005262991
HUGO HGNC:6767
OMIM 601595
CCDS CCDS3765
HPRD 03356
IMGT
EMBL AC093796
GenPept
RNA Seq Atlas 4086