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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.
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
3
Cytoband
q26.2
Chromosome location (bp)
170357342 - 170396835
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May have regulatory role in cell division or differentiation in response to extracellular signals....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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: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:0001669[acrosomal vesicle] GO:0001825[blastocyst formation] GO:0002260[lymphocyte homeostasis] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007283[spermatogenesis] GO:0007519[skeletal muscle tissue development] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016605[PML body] GO:0019904[protein domain specific binding] GO:0030154[cell differentiation] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0032991[protein-containing complex] GO:0034097[response to cytokine] GO:0042802[identical protein binding] GO:0044877[protein-containing complex binding] GO:0045596[negative regulation of cell differentiation] GO:0046332[SMAD binding] GO:0046677[response to antibiotic] GO:0050772[positive regulation of axonogenesis] GO:0051726[regulation of cell cycle] GO:0070306[lens fiber cell differentiation] GO:0070848[response to growth factor] GO:0110165[cellular anatomical entity] GO:1902043[positive regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1902231[positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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: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:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0032991[protein-containing complex] GO:0046332[SMAD binding] GO:0110165[cellular anatomical entity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0032991[protein-containing complex] GO:0046332[SMAD binding] GO:0110165[cellular anatomical entity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0007519[skeletal muscle tissue development] GO:0016605[PML body] GO:0019904[protein domain specific binding] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0044877[protein-containing complex binding] GO:0046332[SMAD binding] GO:0046677[response to antibiotic] GO:0050772[positive regulation of axonogenesis] GO:0070848[response to growth factor] GO:0110165[cellular anatomical entity]