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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).
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
5
Cytoband
q31.1
Chromosome location (bp)
136132845 - 136188747
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional regulator that plays a role in various cellular processes including embryonic development, cell differentiation, angiogenesis and tissue homeostasis 1,2. 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 3. In turn, the hetero-trimeric complex recognizes cis-regulatory elements containing Smad Binding Elements (SBEs) to modulate the outcome of the signaling network 4. Non-phosphorylated SMAD5 has a cytoplasmic role in energy metabolism regulation by promoting mitochondrial respiration and glycolysis in response to cytoplasmic pH changes 5. Mechanistically, interacts with hexokinase 1/HK1 and thereby accelerates glycolysis 6....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 is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]...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.
H0YAK7 [Direct mapping] Mothers against decapentaplegic homolog 5
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SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Q99717 [Direct mapping] Mothers against decapentaplegic homolog 5
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Q68DB7 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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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:0003161[cardiac conduction system development] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0009653[anatomical structure morphogenesis] GO:0009880[embryonic pattern specification] GO:0010629[negative regulation of gene expression] GO:0017151[DEAD/H-box RNA helicase binding] GO:0030154[cell differentiation] GO:0030509[BMP signaling pathway] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0043066[negative regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060395[SMAD protein signal transduction] GO:0070411[I-SMAD binding] GO:0071141[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:1902045[negative regulation of Fas signaling pathway] GO:1990837[sequence-specific double-stranded DNA binding]
Q99717 [Direct mapping] Mothers against decapentaplegic homolog 5
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Q68DB7 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001503[ossification] GO:0001657[ureteric bud development] GO:0001880[Mullerian duct regression] GO:0002051[osteoblast fate commitment] GO:0003161[cardiac conduction system development] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007281[germ cell development] GO:0009653[anatomical structure morphogenesis] GO:0009880[embryonic pattern specification] GO:0010629[negative regulation of gene expression] GO:0017151[DEAD/H-box RNA helicase binding] GO:0030154[cell differentiation] GO:0030218[erythrocyte differentiation] GO:0030509[BMP signaling pathway] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0043066[negative regulation of apoptotic process] GO:0045669[positive regulation of osteoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051216[cartilage development] GO:0060048[cardiac muscle contraction] GO:0060348[bone development] GO:0060395[SMAD protein signal transduction] GO:0070411[I-SMAD binding] GO:0071141[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:1902045[negative regulation of Fas signaling pathway] GO:1990837[sequence-specific double-stranded DNA binding]
Q99717 [Direct mapping] Mothers against decapentaplegic homolog 5
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Q68DB7 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold 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: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:0003161[cardiac conduction system development] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0007165[signal transduction] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0009653[anatomical structure morphogenesis] GO:0009880[embryonic pattern specification] GO:0010629[negative regulation of gene expression] GO:0017151[DEAD/H-box RNA helicase binding] GO:0030154[cell differentiation] GO:0030509[BMP signaling pathway] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0043066[negative regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060395[SMAD protein signal transduction] GO:0070411[I-SMAD binding] GO:0071141[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:1902045[negative regulation of Fas signaling pathway] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
