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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).
Enzymes FDA approved drug targets Metabolic proteins Plasma proteins Transporters
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
20
Cytoband
p13
Chromosome location (bp)
1368977 - 1393164
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Isomerase, Rotamase
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 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.
Enzymes ENZYME proteins Isomerase Metabolic proteins Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs 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:0000413[protein peptidyl-prolyl isomerization] GO:0003007[heart morphogenesis] GO:0003755[peptidyl-prolyl cis-trans isomerase activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005527[macrolide binding] GO:0005528[FK506 binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006457[protein folding] GO:0006458['de novo' protein folding] GO:0007183[SMAD protein complex assembly] GO:0014802[terminal cisterna] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0016853[isomerase activity] GO:0022417[protein maturation by protein folding] GO:0030018[Z disc] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0031312[extrinsic component of organelle membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0032092[positive regulation of protein binding] GO:0032515[negative regulation of phosphoprotein phosphatase activity] GO:0032880[regulation of protein localization] GO:0032925[regulation of activin receptor signaling pathway] GO:0033017[sarcoplasmic reticulum membrane] GO:0034713[type I transforming growth factor beta receptor binding] GO:0042026[protein refolding] GO:0042110[T cell activation] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0044325[transmembrane transporter binding] GO:0046332[SMAD binding] GO:0048185[activin binding] GO:0050776[regulation of immune response] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0060347[heart trabecula formation] GO:0061077[chaperone-mediated protein folding] GO:0070588[calcium ion transmembrane transport] GO:0097435[supramolecular fiber organization] GO:0098562[cytoplasmic side of membrane] GO:1902991[regulation of amyloid precursor protein catabolic process] GO:1990000[amyloid fibril formation] GO:1990425[ryanodine receptor complex]
Enzymes ENZYME proteins Isomerase Metabolic proteins Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000413[protein peptidyl-prolyl isomerization] GO:0003007[heart morphogenesis] GO:0003755[peptidyl-prolyl cis-trans isomerase activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005527[macrolide binding] GO:0005528[FK506 binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006457[protein folding] GO:0006458['de novo' protein folding] GO:0007183[SMAD protein complex assembly] GO:0014802[terminal cisterna] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0016853[isomerase activity] GO:0022417[protein maturation by protein folding] GO:0030018[Z disc] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0031312[extrinsic component of organelle membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0032092[positive regulation of protein binding] GO:0032515[negative regulation of phosphoprotein phosphatase activity] GO:0032880[regulation of protein localization] GO:0032925[regulation of activin receptor signaling pathway] GO:0033017[sarcoplasmic reticulum membrane] GO:0034713[type I transforming growth factor beta receptor binding] GO:0042026[protein refolding] GO:0042110[T cell activation] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0044325[transmembrane transporter binding] GO:0046332[SMAD binding] GO:0048185[activin binding] GO:0050776[regulation of immune response] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0060347[heart trabecula formation] GO:0061077[chaperone-mediated protein folding] GO:0070588[calcium ion transmembrane transport] GO:0097435[supramolecular fiber organization] GO:0098562[cytoplasmic side of membrane] GO:1902991[regulation of amyloid precursor protein catabolic process] GO:1990000[amyloid fibril formation] GO:1990425[ryanodine receptor complex]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Isomerase Metabolic proteins Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000413[protein peptidyl-prolyl isomerization] GO:0003007[heart morphogenesis] GO:0003755[peptidyl-prolyl cis-trans isomerase activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005527[macrolide binding] GO:0005528[FK506 binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006457[protein folding] GO:0006458['de novo' protein folding] GO:0007183[SMAD protein complex assembly] GO:0014802[terminal cisterna] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0016853[isomerase activity] GO:0022417[protein maturation by protein folding] GO:0030018[Z disc] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0031312[extrinsic component of organelle membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0032092[positive regulation of protein binding] GO:0032515[negative regulation of phosphoprotein phosphatase activity] GO:0032880[regulation of protein localization] GO:0032925[regulation of activin receptor signaling pathway] GO:0033017[sarcoplasmic reticulum membrane] GO:0034713[type I transforming growth factor beta receptor binding] GO:0042026[protein refolding] GO:0042110[T cell activation] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0044325[transmembrane transporter binding] GO:0046332[SMAD binding] GO:0048185[activin binding] GO:0050776[regulation of immune response] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:0060347[heart trabecula formation] GO:0061077[chaperone-mediated protein folding] GO:0070588[calcium ion transmembrane transport] GO:0097435[supramolecular fiber organization] GO:0098562[cytoplasmic side of membrane] GO:1902991[regulation of amyloid precursor protein catabolic process] GO:1990000[amyloid fibril formation] GO:1990425[ryanodine receptor complex]
The Human Protein Atlas project is funded
