TGFBR1 (transforming growth factor beta receptor 1) - Rat Genome Database

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Gene: TGFBR1 (transforming growth factor beta receptor 1) Homo sapiens
Symbol: TGFBR1
Name: transforming growth factor beta receptor 1
RGD ID: 733386
Description: Enables several functions, including ATP binding activity; I-SMAD binding activity; and transforming growth factor beta receptor activity, type I. Contributes to transforming growth factor beta binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of signal transduction; and protein phosphorylation. Located in several cellular components, including bicellular tight junction; membrane raft; and transforming growth factor beta ligand-receptor complex. Part of receptor complex. Implicated in Ferguson-Smith tumor; Loeys-Dietz syndrome 1; Lynch syndrome; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AAT5; activin A receptor type II-like kinase, 53kD; activin A receptor type II-like kinase, 53kDa; activin A receptor type II-like protein kinase of 53kD; activin receptor-like kinase 5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; multiple self-healing squamous epithelioma; mutant transforming growth factor beta receptor I; serine/threonine-protein kinase receptor R4; SKR4; tbetaR-I; TBR-i; TBRI; TGF-beta receptor type I; TGF-beta receptor type-1; TGF-beta type I receptor; TGFR-1; transforming growth factor beta receptor I; transforming growth factor, beta receptor 1; transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD); transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa); transforming growth factor-beta receptor type I
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100421483  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38999,104,038 - 99,154,192 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl999,104,038 - 99,154,192 (+)EnsemblGRCh38hg38GRCh38
GRCh379101,867,395 - 101,916,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369100,907,233 - 100,956,295 (+)NCBINCBI36hg18NCBI36
Build 34998,946,966 - 98,991,862NCBI
Celera972,381,280 - 72,430,335 (+)NCBI
Cytogenetic Map9q22.33NCBI
HuRef971,464,684 - 71,515,132 (+)NCBIHuRef
CHM1_19102,013,851 - 102,062,916 (+)NCBICHM1_1
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
3,3'-diindolylmethane  (EXP)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (ISO)
4-hydroxynon-2-enal  (ISO)
4-nitrophenol  (ISO)
4-vinylcyclohexene dioxide  (ISO)
acrolein  (EXP)
acteoside  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (EXP)
allyl alcohol  (ISO)
alpha-pinene  (EXP)
AM-251  (EXP)
ammonium chloride  (ISO)
anthocyanin  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
calciol  (ISO)
cannabidiol  (EXP)
carbon nanotube  (EXP,ISO)
chlorpyrifos  (ISO)
cisatracurium  (EXP)
cisplatin  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
corticosterone  (ISO)
coumestrol  (EXP)
crocin-1  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
dexamethasone  (ISO)
diazepam  (EXP)
dichlorine  (ISO)
dimethylarsinic acid  (ISO)
enalapril  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
furosemide  (ISO)
galangin  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (EXP)
glycyrrhizinic acid  (EXP)
glyphosate  (EXP)
hexachlorobenzene  (ISO)
hydrogen cyanide  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
Isoangustone A  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lenalidomide  (EXP)
leupeptin  (ISO)
lignan  (ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methamphetamine  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mifepristone  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
obeticholic acid  (EXP)
ochratoxin A  (EXP,ISO)
oxalic acid  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
Pentoxifylline  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
piperine  (EXP)
potassium chromate  (EXP)
prostaglandin E2  (ISO)
quartz  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
salvianolic acid B  (ISO)
SB 431542  (EXP,ISO)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
tolfenamic acid  (EXP)
triadimefon  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IBA,ISS)
aging  (ISO)
angiogenesis  (IEA,ISO)
angiogenesis involved in coronary vascular morphogenesis  (IEA,ISS)
animal organ regeneration  (ISO)
anterior/posterior pattern specification  (IEA,ISO,ISS)
apoptotic process  (IEA,ISO)
artery morphogenesis  (IEA,ISO,ISS)
blastocyst development  (IEA,ISO)
cardiac epithelial to mesenchymal transition  (ISS)
cell differentiation  (IEA)
cell motility  (IMP)
cellular response to growth factor stimulus  (IBA)
cellular response to transforming growth factor beta stimulus  (IDA,IEA)
collagen fibril organization  (IEA,ISO,ISS)
coronary artery morphogenesis  (IEA,ISS)
digestive tract development  (ISO)
embryo implantation  (ISO)
embryonic cranial skeleton morphogenesis  (IEA,ISO,ISS)
endothelial cell activation  (ISS)
endothelial cell migration  (IEA,ISO)
endothelial cell proliferation  (IEA,ISO)
epicardium morphogenesis  (IEA,ISS)
epithelial to mesenchymal transition  (IDA)
extracellular structure organization  (TAS)
filopodium assembly  (IEA,ISO)
germ cell migration  (IEA,ISO,ISS)
heart development  (IBA,IEA,ISO,ISS)
in utero embryonic development  (IEA,ISO,ISS)
intracellular signal transduction  (ISS)
kidney development  (IEA,ISO,ISS)
lens development in camera-type eye  (IEA,ISO)
lung development  (ISO)
male gonad development  (IEA,ISO)
mesenchymal cell differentiation  (ISS,TAS)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of chondrocyte differentiation  (IEA,ISS)
negative regulation of endothelial cell differentiation  (ISO)
negative regulation of endothelial cell proliferation  (IEA,ISO)
negative regulation of extrinsic apoptotic signaling pathway  (IMP)
negative regulation of miRNA transcription  (ISO)
nervous system development  (IBA)
neuron fate commitment  (IEA,ISO,ISS)
obsolete positive regulation of cellular component movement  (IMP)
parathyroid gland development  (IEA,ISO,ISS)
pathway-restricted SMAD protein phosphorylation  (IDA)
peptidyl-serine phosphorylation  (IDA)
peptidyl-threonine phosphorylation  (IDA)
pharyngeal system development  (IEA,ISO,ISS)
phosphorylation  (IEA)
positive regulation of apoptotic process  (IEA)
positive regulation of apoptotic signaling pathway  (IDA)
positive regulation of cell growth  (IDA)
positive regulation of cell migration  (IDA)
positive regulation of cell population proliferation  (IMP)
positive regulation of endothelial cell proliferation  (ISS)
positive regulation of epithelial to mesenchymal transition  (IEA,ISS)
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
positive regulation of filopodium assembly  (IEA,ISO)
positive regulation of gene expression  (IMP,ISS)
positive regulation of macromolecule metabolic process  (IEA)
positive regulation of MAPK cascade  (IDA)
positive regulation of miRNA transcription  (ISO)
positive regulation of nitrogen compound metabolic process  (IEA)
positive regulation of pathway-restricted SMAD protein phosphorylation  (IDA)
positive regulation of protein kinase B signaling  (IDA)
positive regulation of SMAD protein signal transduction  (IDA)
positive regulation of stress fiber assembly  (IEA,ISS)
positive regulation of tight junction disassembly  (IEA,ISS)
positive regulation of transcription, DNA-templated  (IDA,ISS)
post-embryonic development  (IEA,ISO)
proepicardium development  (ISS)
protein autophosphorylation  (ISO)
protein phosphorylation  (IBA,IDA,IEA,ISO)
regulation of cardiac muscle cell proliferation  (IEA,ISS)
regulation of cell cycle  (TAS)
regulation of epithelial to mesenchymal transition  (ISS)
regulation of gene expression  (IEA,ISO,ISS)
regulation of growth  (IEA)
regulation of macromolecule metabolic process  (IEA)
regulation of multicellular organismal process  (IEA)
regulation of nitrogen compound metabolic process  (IEA)
regulation of primary metabolic process  (IEA)
regulation of protein binding  (IEA,ISO)
regulation of protein ubiquitination  (IDA)
regulation of transcription, DNA-templated  (IDA,IMP)
response to cholesterol  (IDA,IEA)
response to electrical stimulus  (ISO)
response to estrogen  (ISO)
response to hypoxia  (ISO)
response to organic cyclic compound  (ISO)
response to prostaglandin E  (ISO)
response to toxic substance  (ISO)
roof of mouth development  (IEA,ISO,ISS)
signal transduction  (IDA)
skeletal system development  (IEA,ISO,ISS)
skeletal system morphogenesis  (IEA,ISO,ISS)
thymus development  (IEA,ISO,ISS)
transforming growth factor beta receptor signaling pathway  (IBA,IC,IDA,IEA,IMP,ISO,ISS)
transmembrane receptor protein serine/threonine kinase signaling pathway  (IEA)
ventricular compact myocardium morphogenesis  (IEA,ISS)
ventricular septum morphogenesis  (IEA,ISS)
ventricular trabecula myocardium morphogenesis  (IEA,ISS)
wound healing  (TAS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of the skin  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Arachnodactyly  (IAGP)
Arterial dissection  (IAGP)
Arterial tortuosity  (IAGP)
Ascending aortic dissection  (IAGP)
Atrial septal defect  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid uvula  (IAGP)
Blue sclerae  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Carotid artery dilatation  (IAGP)
Cervical spine instability  (IAGP)
Chest pain  (IAGP)
Chiari malformation  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Craniosynostosis  (IAGP)
Cutis marmorata  (IAGP)
Dermal translucency  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate tall stature  (IAGP)
Dural ectasia  (IAGP)
Eosinophilic infiltration of the esophagus  (IAGP)
Exertional dyspnea  (IAGP)
Exotropia  (IAGP)
Global developmental delay  (IAGP)
Hemoptysis  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypovolemia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Ischemic stroke  (IAGP)
Joint dislocation  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Neoplasm  (IAGP)
Nephronophthisis  (IAGP)
Onset  (IAGP)
Paroxysmal dyspnea  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Peripheral arterial stenosis  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Postaxial hand polydactyly  (IAGP)
Prenatal maternal abnormality  (IAGP)
Proptosis  (IAGP)
Pulmonary artery aneurysm  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Soft skin  (IAGP)
Striae distensae  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Thin skin  (IAGP)
Transient ischemic attack  (IAGP)
Uterine rupture  (IAGP)

References - curated
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7. Chen Y, etal., Am J Pathol. 2005 Dec;167(6):1699-711.
8. de Gouville AC, etal., Br J Pharmacol. 2005 May;145(2):166-77.
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10. GOA_HUMAN data from the GO Consortium
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19. OMIM Disease Annotation Pipeline
20. Pipeline to import KEGG annotations from KEGG into RGD
21. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
22. Ranchoux B, etal., Circulation. 2015 Mar 17;131(11):1006-18. doi: 10.1161/CIRCULATIONAHA.114.008750. Epub 2015 Jan 15.
23. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. RGD automated import pipeline for gene-chemical interactions
25. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
27. Siegel PM, etal., Proc Natl Acad Sci U S A 2003 Jul 8;100(14):8430-5. Epub 2003 Jun 13.
28. Wang XN, etal., Zhong Xi Yi Jie He Xue Bao. 2005 Jul;3(4):286-9.
29. Wilkes MC, etal., Mol Cell Biol. 2003 Dec;23(23):8878-89.
30. Woszczyk D, etal., Med Sci Monit. 2004 Jan;10(1):CR33-7.
31. Xu Y and Pasche B, Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R14-20.
32. Zaiman AL, etal., Am J Respir Crit Care Med. 2008 Apr 15;177(8):896-905. Epub 2008 Jan 17.
33. Zhang X, etal., J Neurogastroenterol Motil. 2016 Apr 30;22(2):333-43. doi: 10.5056/jnm15127.
34. Zhang Y, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2007 Dec;27(12):1094-8.
Additional References at PubMed
PMID:1319842   PMID:1326540   PMID:1333888   PMID:7518616   PMID:7774578   PMID:7791754   PMID:7852346   PMID:7890683   PMID:8235612   PMID:8242742   PMID:8242743   PMID:8521960  
PMID:8530052   PMID:8530343   PMID:8555189   PMID:8576253   PMID:8622651   PMID:8752209   PMID:8774881   PMID:8980228   PMID:9045666   PMID:9136927   PMID:9215638   PMID:9311995  
PMID:9335505   PMID:9335507   PMID:9346894   PMID:9346908   PMID:9389648   PMID:9417915   PMID:9435577   PMID:9436979   PMID:9439661   PMID:9472030   PMID:9525694   PMID:9545258  
PMID:9661882   PMID:9738003   PMID:9748228   PMID:9759503   PMID:9774674   PMID:9856985   PMID:9865696   PMID:9872992   PMID:9892009   PMID:10025408   PMID:10085121   PMID:10716993  
PMID:10757800   PMID:11100470   PMID:11102446   PMID:11157754   PMID:11163210   PMID:11278251   PMID:11278302   PMID:11279102   PMID:11356828   PMID:11387212   PMID:11420127   PMID:11438668  
PMID:11483955   PMID:11583628   PMID:11746979   PMID:11820800   PMID:11850637   PMID:11867510   PMID:12000714   PMID:12015308   PMID:12017275   PMID:12065756   PMID:12082094   PMID:12145287  
PMID:12151385   PMID:12202987   PMID:12358857   PMID:12429842   PMID:12446693   PMID:12477932   PMID:12543979   PMID:12607775   PMID:12857866   PMID:12873459   PMID:12947057   PMID:14517293  
PMID:14580334   PMID:14597484   PMID:14633705   PMID:14657019   PMID:14702039   PMID:14718519   PMID:15009106   PMID:15146427   PMID:15148321   PMID:15155736   PMID:15177479   PMID:15178549  
PMID:15247277   PMID:15305380   PMID:15317461   PMID:15350225   PMID:15356634   PMID:15359284   PMID:15385056   PMID:15459392   PMID:15465036   PMID:15496141   PMID:15498571   PMID:15505640  
PMID:15546867   PMID:15597342   PMID:15599934   PMID:15611116   PMID:15657037   PMID:15661740   PMID:15702480   PMID:15761148   PMID:15761153   PMID:15833881   PMID:15860866   PMID:15863158  
PMID:15938776   PMID:15946939   PMID:15955593   PMID:15961557   PMID:16027725   PMID:16049346   PMID:16170343   PMID:16289162   PMID:16407286   PMID:16528739   PMID:16596670   PMID:16754747  
PMID:16791849   PMID:16806156   PMID:16835936   PMID:16857807   PMID:16928994   PMID:16947635   PMID:16950395   PMID:16980081   PMID:16998703   PMID:17072348   PMID:17087113   PMID:17099224  
PMID:17203972   PMID:17238135   PMID:17314099   PMID:17319955   PMID:17365852   PMID:17507611   PMID:17575241   PMID:17607123   PMID:17649947   PMID:17652900   PMID:17657819   PMID:17703412  
PMID:17705854   PMID:17845732   PMID:17848193   PMID:17848956   PMID:17878231   PMID:17890272   PMID:17936924   PMID:18095342   PMID:18097622   PMID:18174230   PMID:18174246   PMID:18202754  
PMID:18223258   PMID:18243111   PMID:18252868   PMID:18316594   PMID:18333754   PMID:18421475   PMID:18456797   PMID:18469808   PMID:18474728   PMID:18511908   PMID:18541723   PMID:18546940  
PMID:18550062   PMID:18591668   PMID:18625725   PMID:18676680   PMID:18683732   PMID:18703712   PMID:18711258   PMID:18721526   PMID:18758450   PMID:18778720   PMID:18781618   PMID:18922473  
PMID:18925687   PMID:18974388   PMID:18978678   PMID:19004027   PMID:19012493   PMID:19036501   PMID:19116361   PMID:19139564   PMID:19147499   PMID:19170196   PMID:19214138   PMID:19229971  
PMID:19255252   PMID:19258923   PMID:19293232   PMID:19299112   PMID:19299629   PMID:19322201   PMID:19336370   PMID:19375841   PMID:19390964   PMID:19401691   PMID:19426152   PMID:19453261  
PMID:19494318   PMID:19505916   PMID:19506300   PMID:19509225   PMID:19538729   PMID:19542084   PMID:19556242   PMID:19586667   PMID:19592635   PMID:19595713   PMID:19601999   PMID:19608716  
PMID:19625176   PMID:19626999   PMID:19639490   PMID:19639654   PMID:19672284   PMID:19688145   PMID:19690145   PMID:19692168   PMID:19711426   PMID:19732720   PMID:19736306   PMID:19758997  
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