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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.
Disease related genes Enzymes Human disease related genes Potential drug targets
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
9
Cytoband
q22.33
Chromosome location (bp)
99104038 - 99154192
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
TGFBR1-201
TGFBR1-202
TGFBR1-203
TGFBR1-204
TGFBR1-205
TGFBR1-206
TGFBR1-208
TGFBR1-209
TGFBR1-210
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.
Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the circulatory system 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:0000166 [nucleotide binding] GO:0000186 [activation of MAPKK activity] GO:0001501 [skeletal system development] GO:0001701 [in utero embryonic development] GO:0001822 [kidney development] GO:0001837 [epithelial to mesenchymal transition] GO:0001938 [positive regulation of endothelial cell proliferation] GO:0003222 [ventricular trabecula myocardium morphogenesis] GO:0003223 [ventricular compact myocardium morphogenesis] GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0004675 [transmembrane receptor protein serine/threonine kinase activity] GO:0005024 [transforming growth factor beta-activated receptor activity] GO:0005025 [transforming growth factor beta receptor activity, type I] GO:0005114 [type II transforming growth factor beta receptor binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005768 [endosome] GO:0005886 [plasma membrane] GO:0005923 [bicellular tight junction] GO:0006355 [regulation of transcription, DNA-templated] GO:0006468 [protein phosphorylation] GO:0006915 [apoptotic process] GO:0007050 [cell cycle arrest] GO:0007165 [signal transduction] GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0007399 [nervous system development] GO:0007507 [heart development] GO:0008284 [positive regulation of cell population proliferation] GO:0008354 [germ cell migration] GO:0009952 [anterior/posterior pattern specification] GO:0009986 [cell surface] GO:0010628 [positive regulation of gene expression] GO:0010717 [regulation of epithelial to mesenchymal transition] GO:0010718 [positive regulation of epithelial to mesenchymal transition] GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016301 [kinase activity] GO:0016310 [phosphorylation] GO:0016361 [activin receptor activity, type I] GO:0016579 [protein deubiquitination] GO:0016740 [transferase activity] GO:0018105 [peptidyl-serine phosphorylation] GO:0018107 [peptidyl-threonine phosphorylation] GO:0019838 [growth factor binding] GO:0030054 [cell junction] GO:0030154 [cell differentiation] GO:0030199 [collagen fibril organization] GO:0030307 [positive regulation of cell growth] GO:0030335 [positive regulation of cell migration] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0031396 [regulation of protein ubiquitination] GO:0032331 [negative regulation of chondrocyte differentiation] GO:0032924 [activin receptor signaling pathway] GO:0035556 [intracellular signal transduction] GO:0040008 [regulation of growth] GO:0042060 [wound healing] GO:0042118 [endothelial cell activation] GO:0043062 [extracellular structure organization] GO:0043235 [receptor complex] GO:0045121 [membrane raft] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048179 [activin receptor complex] GO:0048185 [activin binding] GO:0048538 [thymus development] GO:0048663 [neuron fate commitment] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0048705 [skeletal system morphogenesis] GO:0048762 [mesenchymal cell differentiation] GO:0048844 [artery morphogenesis] GO:0048870 [cell motility] GO:0050431 [transforming growth factor beta binding] GO:0051272 [positive regulation of cellular component movement] GO:0051496 [positive regulation of stress fiber assembly] GO:0051897 [positive regulation of protein kinase B signaling] GO:0060017 [parathyroid gland development] GO:0060021 [roof of mouth development] GO:0060037 [pharyngeal system development] GO:0060043 [regulation of cardiac muscle cell proliferation] GO:0060317 [cardiac epithelial to mesenchymal transition] GO:0060389 [pathway-restricted SMAD protein phosphorylation] GO:0060391 [positive regulation of SMAD protein signal transduction] GO:0060412 [ventricular septum morphogenesis] GO:0060978 [angiogenesis involved in coronary vascular morphogenesis] GO:0060982 [coronary artery morphogenesis] GO:0070411 [I-SMAD binding] GO:0070723 [response to cholesterol] GO:0071363 [cellular response to growth factor stimulus] GO:0071560 [cellular response to transforming growth factor beta stimulus] GO:1905007 [positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905075 [positive regulation of tight junction disassembly] GO:1905223 [epicardium morphogenesis] GO:2001235 [positive regulation of apoptotic signaling pathway] GO:2001237 [negative regulation of extrinsic apoptotic signaling pathway]
Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the circulatory system 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:0000166 [nucleotide binding] GO:0000186 [activation of MAPKK activity] GO:0001501 [skeletal system development] GO:0001701 [in utero embryonic development] GO:0001822 [kidney development] GO:0001837 [epithelial to mesenchymal transition] GO:0001938 [positive regulation of endothelial cell proliferation] GO:0003222 [ventricular trabecula myocardium morphogenesis] GO:0003223 [ventricular compact myocardium morphogenesis] GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0004675 [transmembrane receptor protein serine/threonine kinase activity] GO:0005024 [transforming growth factor beta-activated receptor activity] GO:0005025 [transforming growth factor beta receptor activity, type I] GO:0005114 [type II transforming growth factor beta receptor binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005768 [endosome] GO:0005886 [plasma membrane] GO:0005923 [bicellular tight junction] GO:0006355 [regulation of transcription, DNA-templated] GO:0006468 [protein phosphorylation] GO:0006915 [apoptotic process] GO:0007050 [cell cycle arrest] GO:0007165 [signal transduction] GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0007399 [nervous system development] GO:0007507 [heart development] GO:0008284 [positive regulation of cell population proliferation] GO:0008354 [germ cell migration] GO:0009952 [anterior/posterior pattern specification] GO:0009986 [cell surface] GO:0010468 [regulation of gene expression] GO:0010628 [positive regulation of gene expression] GO:0010717 [regulation of epithelial to mesenchymal transition] GO:0010718 [positive regulation of epithelial to mesenchymal transition] GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016301 [kinase activity] GO:0016310 [phosphorylation] GO:0016361 [activin receptor activity, type I] GO:0016579 [protein deubiquitination] GO:0016740 [transferase activity] GO:0018105 [peptidyl-serine phosphorylation] GO:0018107 [peptidyl-threonine phosphorylation] GO:0019838 [growth factor binding] GO:0030054 [cell junction] GO:0030154 [cell differentiation] GO:0030199 [collagen fibril organization] GO:0030307 [positive regulation of cell growth] GO:0030335 [positive regulation of cell migration] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0031396 [regulation of protein ubiquitination] GO:0032331 [negative regulation of chondrocyte differentiation] GO:0032924 [activin receptor signaling pathway] GO:0035556 [intracellular signal transduction] GO:0040008 [regulation of growth] GO:0042060 [wound healing] GO:0042118 [endothelial cell activation] GO:0043062 [extracellular structure organization] GO:0043235 [receptor complex] GO:0045121 [membrane raft] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048179 [activin receptor complex] GO:0048185 [activin binding] GO:0048538 [thymus development] GO:0048663 [neuron fate commitment] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0048705 [skeletal system morphogenesis] GO:0048762 [mesenchymal cell differentiation] GO:0048844 [artery morphogenesis] GO:0048870 [cell motility] GO:0050431 [transforming growth factor beta binding] GO:0051272 [positive regulation of cellular component movement] GO:0051496 [positive regulation of stress fiber assembly] GO:0051897 [positive regulation of protein kinase B signaling] GO:0060017 [parathyroid gland development] GO:0060021 [roof of mouth development] GO:0060037 [pharyngeal system development] GO:0060043 [regulation of cardiac muscle cell proliferation] GO:0060317 [cardiac epithelial to mesenchymal transition] GO:0060389 [pathway-restricted SMAD protein phosphorylation] GO:0060391 [positive regulation of SMAD protein signal transduction] GO:0060412 [ventricular septum morphogenesis] GO:0060978 [angiogenesis involved in coronary vascular morphogenesis] GO:0060982 [coronary artery morphogenesis] GO:0070411 [I-SMAD binding] GO:0070723 [response to cholesterol] GO:0071363 [cellular response to growth factor stimulus] GO:0071560 [cellular response to transforming growth factor beta stimulus] GO:1905007 [positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905075 [positive regulation of tight junction disassembly] GO:1905223 [epicardium morphogenesis] GO:2001235 [positive regulation of apoptotic signaling pathway] GO:2001237 [negative regulation of extrinsic apoptotic signaling pathway]
F8VXZ5 [Direct mapping] Receptor protein serine/threonine kinase
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
