ENSG00000106799


Homo sapiens

Features
Gene ID: ENSG00000106799
  
Biological name :TGFBR1
  
Synonyms : P36897 / TGFBR1 / transforming growth factor beta receptor 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q22.33
Gene start: 99104038
Gene end: 99154192
  
Corresponding Affymetrix probe sets: 206943_at (Human Genome U133 Plus 2.0 Array)   224793_s_at (Human Genome U133 Plus 2.0 Array)   236561_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449934
Ensembl peptide - ENSP00000449028
Ensembl peptide - ENSP00000450052
Ensembl peptide - ENSP00000364129
Ensembl peptide - ENSP00000364133
Ensembl peptide - ENSP00000446685
Ensembl peptide - ENSP00000447182
Ensembl peptide - ENSP00000447297
Ensembl peptide - ENSP00000447707
Ensembl peptide - ENSP00000448518
NCBI entrez gene - 7046     See in Manteia.
OMIM - 190181
RefSeq - XM_017015063
RefSeq - NM_001130916
RefSeq - NM_001306210
RefSeq - NM_004612
RefSeq - XM_011518948
RefSeq - XM_011518949
RefSeq - XM_011518950
RefSeq Peptide - NP_001124388
RefSeq Peptide - NP_001293139
RefSeq Peptide - NP_004603
swissprot - F8VRH6
swissprot - F8VVC4
swissprot - F8VXZ5
swissprot - F8W0K6
swissprot - F8W1R9
swissprot - P36897
swissprot - H0YHS4
swissprot - Q5T7S2
swissprot - B4DY26
Ensembl - ENSG00000106799
  
Related genetic diseases (OMIM): 132800 - {Multiple self-healing squamous epithelioma, susceptibility to}, 132800
  609192 - Loeys-Dietz syndrome 1, 609192
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tgfbr1aENSDARG00000017494Danio rerio
 tgfbr1bENSDARG00000042259Danio rerio
 TGFBR1ENSGALG00000033179Gallus gallus
 Q64729ENSMUSG00000007613Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACVR1B / P36896 / activin A receptor type 1BENSG0000013550368
ACVR1C / Q8NER5 / activin A receptor type 1CENSG0000012361266
BMPR1B / O00238 / bone morphogenetic protein receptor type 1BENSG0000013869651
BMPR1A / P36894 / bone morphogenetic protein receptor type 1AENSG0000010777950
ACVR1 / Q04771 / activin A receptor type 1ENSG0000011517048
ACVRL1 / P37023 / activin A receptor like type 1ENSG0000013956747
P37173 / TGFBR2 / transforming growth factor beta receptor 2ENSG0000016351330
ACVR2B / Q13705 / activin A receptor type 2BENSG0000011473928
ACVR2A / P27037 / activin A receptor type 2AENSG0000012198928
BMPR2 / Q13873 / bone morphogenetic protein receptor type 2ENSG0000020421726
AMHR2 / Q16671 / anti-Mullerian hormone receptor type 2ENSG0000013540925


Protein motifs (from Interpro)
Interpro ID Name
 IPR000333  Ser/Thr protein kinase, TGFB receptor
 IPR000472  Activin types I and II receptor domain
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR003605  GS domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000186 activation of MAPKK activity IDA
 biological_processGO:0001501 skeletal system development IEA
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0001824 blastocyst development IEA
 biological_processGO:0001837 epithelial to mesenchymal transition IDA
 biological_processGO:0001937 negative regulation of endothelial cell proliferation IEA
 biological_processGO:0001938 positive regulation of endothelial cell proliferation ISS
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0003222 ventricular trabecula myocardium morphogenesis IEA
 biological_processGO:0003223 ventricular compact myocardium morphogenesis IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007050 cell cycle arrest TAS
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway ISS
 biological_processGO:0007507 heart development ISS
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008354 germ cell migration IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0010468 regulation of gene expression ISS
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0010717 regulation of epithelial to mesenchymal transition ISS
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IEA
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0018105 peptidyl-serine phosphorylation IDA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IDA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030199 collagen fibril organization IEA
 biological_processGO:0030307 positive regulation of cell growth IDA
 biological_processGO:0030335 positive regulation of cell migration IDA
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway TAS
 biological_processGO:0031396 regulation of protein ubiquitination IDA
 biological_processGO:0032331 negative regulation of chondrocyte differentiation IEA
 biological_processGO:0032924 activin receptor signaling pathway ISS
 biological_processGO:0035556 intracellular signal transduction ISS
 biological_processGO:0040008 regulation of growth IEA
 biological_processGO:0042060 wound healing TAS
 biological_processGO:0042118 endothelial cell activation ISS
 biological_processGO:0043062 extracellular structure organization TAS
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043393 regulation of protein binding IEA
 biological_processGO:0043542 endothelial cell migration IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0048663 neuron fate commitment IEA
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IEA
 biological_processGO:0048705 skeletal system morphogenesis IEA
 biological_processGO:0048762 mesenchymal cell differentiation ISS
 biological_processGO:0048844 artery morphogenesis IEA
 biological_processGO:0048870 cell motility IMP
 biological_processGO:0051272 positive regulation of cellular component movement IMP
 biological_processGO:0051491 positive regulation of filopodium assembly IEA
 biological_processGO:0051496 positive regulation of stress fiber assembly IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling IDA
 biological_processGO:0060017 parathyroid gland development IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060037 pharyngeal system development IEA
 biological_processGO:0060043 regulation of cardiac muscle cell proliferation IEA
 biological_processGO:0060317 cardiac epithelial to mesenchymal transition ISS
 biological_processGO:0060389 pathway-restricted SMAD protein phosphorylation IDA
 biological_processGO:0060391 positive regulation of SMAD protein signal transduction IDA
 biological_processGO:0060412 ventricular septum morphogenesis IEA
 biological_processGO:0060978 angiogenesis involved in coronary vascular morphogenesis IEA
 biological_processGO:0060982 coronary artery morphogenesis IEA
 biological_processGO:0070723 response to cholesterol IEA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IEA
 biological_processGO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation IEA
 biological_processGO:1905075 positive regulation of occluding junction disassembly IEA
 biological_processGO:1905223 epicardium morphogenesis IEA
 biological_processGO:2001235 positive regulation of apoptotic signaling pathway IDA
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway IMP
 cellular_componentGO:0005623 cell ISS
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0043235 receptor complex IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070022 transforming growth factor beta receptor complex IC
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA
 molecular_functionGO:0004702 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity IEA
 molecular_functionGO:0005024 transforming growth factor beta-activated receptor activity IEA
 molecular_functionGO:0005025 transforming growth factor beta receptor activity, type I ISS
 molecular_functionGO:0005057 obsolete signal transducer activity, downstream of receptor ISS
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005114 type II transforming growth factor beta receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019838 growth factor binding IPI
 molecular_functionGO:0046332 SMAD binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050431 transforming growth factor beta binding ISS
 molecular_functionGO:0070411 I-SMAD binding IPI


Pathways (from Reactome)
Pathway description
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling activates SMADs
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
SMAD2/3 Phosphorylation Motif Mutants in Cancer
SMAD2/3 MH2 Domain Mutants in Cancer
TGFBR2 Kinase Domain Mutants in Cancer
TGFBR1 KD Mutants in Cancer
TGFBR1 LBD Mutants in Cancer
UCH proteinases
Ub-specific processing proteases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000023 Inguinal hernia 
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 HP:0000098 Increased body height 
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 HP:0000193 Bifid uvula "A split or cleft uvula." [HPO:curators]
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 HP:0000202 Cleft lip/palate 
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000278 Retrognathia 
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 HP:0000316 Hypertelorism 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000525 Abnormality of the iris "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:curators]
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 HP:0000592 Blue sclerae 
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 HP:0000766 Abnormality of the sternum 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000768 Pectus carinatum "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000963 Thin skin 
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 HP:0000965 Cutis marmorata 
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 HP:0000978 Ecchymoses 
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 HP:0000987 Scarring 
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 HP:0001065 Striae distensae "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators]
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 HP:0001166 Arachnodactyly "Abnormally long and slender fingers ("spider fingers")." [HPO:curators]
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 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
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 HP:0001373 Joint dislocation "Displacement or malalignment of joints." [HPO:curators]
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 HP:0001640 Cardiomegaly 
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001647 Bicuspid aortic valve "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson]
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 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
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 HP:0001677 Coronary artery disease 
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 HP:0001695 Cardiac arrest 
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
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 HP:0002105 Hemoptysis "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators]
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 HP:0002107 Pneumothorax 
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 HP:0002138 Subarachnoid hemorrhage 
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 HP:0002140 Ischemic stroke 
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 HP:0002326 Transient ischemic attack 
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 HP:0002616 Aortic root dilatation 
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 HP:0002647 Aortic dissection "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002686 Prenatal maternal abnormality 
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 HP:0002705 High, narrow palate "The presence of a high and narrow palate." [HPO:curators]
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 HP:0002875 Exertional dyspnea 
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 HP:0004933 ascending aortic dissection 
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 HP:0004942 Aortic aneurysms 
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 HP:0004944 Cerebral aneurysm "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators]
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 HP:0004950 Peripheral arterial disease 
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 HP:0004959 Dilatation of the descending thoracic aorta 
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 HP:0005112 Dilatation of the abdominal aorta 
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 HP:0005116 Arterial tortuosity "Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators]
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 HP:0005162 Impaired left ventricular function 
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 HP:0005294 Arterial dissection 
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 HP:0005692 Joint hyperflexibility 
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 HP:0011106 Hypovolemia "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson]
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 HP:0012163 Carotid artery aneurysm "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson]
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 HP:0012499 Descending aortic dissection "A separation of the layers within the wall of the `descending aorta` (FMA:3784). Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson]
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 HP:0012763 Paroxysmal dyspnea "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson]
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 HP:0100490 Camptodactyly (hands) "Contractures of one ore more joints of the fingers." [HPO:sdoelken]
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 HP:0100718 Uterine rupture 
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 HP:0100749 Chest pain 
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 HP:0100775 Dural ectasia "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken]
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 HP:0200146 Cystic medial necrosis of the aorta 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000023734 STRAP / Q9Y3F4 / serine/threonine kinase receptor associated protein  / complex / reaction
 ENSG00000105329 TGFB1 / P01137 / transforming growth factor beta 1  / complex / reaction
 ENSG00000175387 SMAD2 / Q15796 / SMAD family member 2  / reaction
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000049759 NEDD4L / Q96PU5 / neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase  / reaction / complex
 ENSG00000101665 SMAD7 / O15105 / SMAD family member 7  / reaction / complex
 ENSG00000157077 O95405 / ZFYVE9 / zinc finger FYVE-type containing 9  / reaction / complex
 ENSG00000135655 USP15 / Q9Y4E8 / ubiquitin specific peptidase 15  / complex / reaction
 ENSG00000163513 P37173 / TGFBR2 / transforming growth factor beta receptor 2  / reaction / complex
 ENSG00000166949 SMAD3 / P84022 / SMAD family member 3  / reaction
 ENSG00000198742 Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1  / complex / reaction
 ENSG00000116750 UCHL5 / Q9Y5K5 / ubiquitin C-terminal hydrolase L5  / complex / reaction
 ENSG00000213639 P62140 / PPP1CB / protein phosphatase 1 catalytic subunit beta  / reaction / complex
 ENSG00000088832 FKBP1A / P62942 / FK506 binding protein 1A  / complex / reaction
 ENSG00000172531 P62136 / PPP1CA / protein phosphatase 1 catalytic subunit alpha  / complex / reaction
 ENSG00000106799 P36897 / TGFBR1 / transforming growth factor beta receptor 1  / reaction / complex
 ENSG00000186298 P36873 / PPP1CC / protein phosphatase 1 catalytic subunit gamma  / reaction / complex
 ENSG00000087074 O75807 / PPP1R15A / protein phosphatase 1 regulatory subunit 15A  / reaction / complex
 ENSG00000095739 BAMBI / Q13145 / BMP and activin membrane bound inhibitor  / complex / reaction






 

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