Homo sapiens Gene: SMAD6
Summary
InnateDB Gene IDBG-18304.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMAD6
Gene Name SMAD family member 6
Synonyms AOVD2; HsT17432; MADH6; MADH7
Species Homo sapiens
Ensembl Gene ENSG00000137834
Encoded Proteins
SMAD family member 6
SMAD family member 6
SMAD family member 6
SMAD family member 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
SMAD6 is a critical mediator of the TGF-beta-BMP pathway that mediates anti-inflammatory activity and negatively regulates IL-1R-Toll-like receptor signals.
SMAD6 acts a critical mediator for effective TGF-beta1-mediated suppression of IL-1R/TLR signalling, by simultaneous binding to discrete regions of Pellino-1.
Entrez Gene
Summary The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila \'mothers against decapentaplegic\' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:66702228-66782848
Strand Forward strand
Band q22.31
Transcripts
ENST00000288840 ENSP00000288840
ENST00000557916 ENSP00000452955
ENST00000559931 ENSP00000453446
ENST00000558937 ENSP00000452694
ENST00000612349
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated
Total 69 [view]
Protein-Protein 68 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0030617 transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity
GO:0031625 ubiquitin protein ligase binding
GO:0034713 type I transforming growth factor beta receptor binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0070410 co-SMAD binding
GO:0070411 I-SMAD binding
GO:0070412 R-SMAD binding
GO:0070698 type I activin receptor binding
Biological Process
GO:0001657 ureteric bud development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006955 immune response
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007352 zygotic specification of dorsal/ventral axis
GO:0008285 negative regulation of cell proliferation
GO:0010991 negative regulation of SMAD protein complex assembly
GO:0030509 BMP signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
GO:0031589 cell-substrate adhesion
GO:0034616 response to laminar fluid shear stress
GO:0035556 intracellular signal transduction
GO:0043066 negative regulation of apoptotic process
GO:0043627 response to estrogen
GO:0045087 innate immune response (InnateDB)
GO:0045444 fat cell differentiation
GO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
Signaling by BMP pathway
Signal Transduction pathway
KEGG
TGF-beta signaling pathway pathway
Endocytosis pathway
INOH
TGF-beta signaling pathway
BMP2 signaling pathway
PID NCI
BMP receptor signaling
Cross-References
SwissProt O43541
TrEMBL H0YK80 H0YM33
UniProt Splice Variant
Entrez Gene 4091
UniGene Hs.153863
RefSeq NM_005585
HUGO HGNC:6772
OMIM 602931
CCDS CCDS10221
HPRD
IMGT
EMBL AC013564 AC110048 AF035528 AF037469 AF041062 AF041063 AF041064 AF041065 AF043640 AF101474 AM909653 BC012986 U59914
GenPept AAB94137 AAC00497 AAC50792 AAC82331 AAF06841 AAF14343 AAH12986 CAP20377
RNA Seq Atlas 4091