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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q31.21
Chromosome location (bp)
145481194 - 145559176
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional modulator that plays a role in various cellular processes, including embryonic development, cell differentiation, and tissue homeostasis 1. Upon BMP ligand binding to their receptors at the cell surface, is phosphorylated by activated type I BMP receptors (BMPRIs) and associates with SMAD4 to form an heteromeric complex which translocates into the nucleus acting as transcription factor 2. In turn, the hetero-trimeric complex recognizes cis-regulatory elements containing Smad Binding Elements (SBEs) to modulate the outcome of the signaling network 3. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Positively regulates BMP4-induced expression of odontogenic development regulator MSX1 following IPO7-mediated nuclear import (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q15797 [Direct mapping] Mothers against decapentaplegic homolog 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000165[MAPK cascade] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0001657[ureteric bud development] GO:0001710[mesodermal cell fate commitment] GO:0002051[osteoblast fate commitment] GO:0003161[cardiac conduction system development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] 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:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0009880[embryonic pattern specification] GO:0010628[positive regulation of gene expression] GO:0016020[membrane] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0030154[cell differentiation] GO:0030509[BMP signaling pathway] GO:0030901[midbrain development] GO:0030902[hindbrain development] GO:0031053[primary miRNA processing] GO:0032991[protein-containing complex] GO:0042592[homeostatic process] GO:0042802[identical protein binding] GO:0043565[sequence-specific DNA binding] GO:0045669[positive regulation of osteoblast differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051148[negative regulation of muscle cell differentiation] GO:0051216[cartilage development] GO:0060038[cardiac muscle cell proliferation] GO:0060348[bone development] GO:0060395[SMAD protein signal transduction] GO:0061036[positive regulation of cartilage development] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070878[primary miRNA binding] GO:0071141[SMAD protein complex] GO:0071142[homomeric SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] 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] GO:1902895[positive regulation of miRNA transcription] GO:1903672[positive regulation of sprouting angiogenesis]
Q15797 [Direct mapping] Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0003161[cardiac conduction system development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0009653[anatomical structure morphogenesis] GO:0009880[embryonic pattern specification] GO:0010628[positive regulation of gene expression] GO:0016020[membrane] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0030154[cell differentiation] GO:0030509[BMP signaling pathway] GO:0031053[primary miRNA processing] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0060395[SMAD protein signal transduction] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0071141[SMAD protein complex] GO:0071142[homomeric SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1903672[positive regulation of sprouting angiogenesis]
Q15797 [Direct mapping] Mothers against decapentaplegic homolog 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0003161[cardiac conduction system development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0009653[anatomical structure morphogenesis] GO:0009880[embryonic pattern specification] GO:0010628[positive regulation of gene expression] GO:0016020[membrane] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0030154[cell differentiation] GO:0030509[BMP signaling pathway] GO:0031053[primary miRNA processing] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0060395[SMAD protein signal transduction] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0071141[SMAD protein complex] GO:0071142[homomeric SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1903672[positive regulation of sprouting angiogenesis]
The Human Protein Atlas project is funded
