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TGFBR1 transforming growth factor, beta receptor 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu16616 NM_001130916 Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu17991 NM_004612 Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu43465 XM_005252150 PREDICTED: Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu16616C NM_001130916 Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu17991C NM_004612 Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu43465C XM_005252150 PREDICTED: Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol TGFBR1
Entrez Gene ID 7046
Full Name transforming growth factor, beta receptor 1
Synonyms AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TGFR-1
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q22

Summary The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].
Disorder

MIM: 190181

Loeys-Dietz syndrome, type 1A, 609192 (3); Loeys-Dietz syndrome,

mRNA Protein Product Sequence Price Select
NM_001130916, 195963411 NP_001124388, 195963412 TGF-beta receptor type-1 isoform 2 precursor ORF Sequence $550.00
NM_004612, 66346739 NP_004603, 4759226 TGF-beta receptor type-1 isoform 1 precursor ORF Sequence $550.00
XM_005252150, 530391448 XP_005252207, 530391449 TGF-beta receptor type-1 isoform X1 ORF Sequence $550.00
KEGG
hsa04520Adherens junction
hsa04010MAPK signaling pathway
hsa04060Cytokine-cytokine receptor interaction
hsa04350TGF-beta signaling pathway
hsa05212Pancreatic cancer
hsa05200Pathways in cancer
hsa05210Colorectal cancer
hsa05220Chronic myeloid leukemia
hsa04144Endocytosis
hsa05142Chagas disease (American trypanosomiasis)
hsa05166HTLV-I infection
hsa04380Osteoclast differentiation
hsa05161Hepatitis B
hsa04390Hippo signaling pathway
hsa04068FoxO signaling pathway
WikiPathways
WP382MAPK signaling pathway
WP1984Integrated Breast Cancer Pathway
WP366TGF-beta Receptor Signaling Pathway
WP560TGF Beta Signaling Pathway
WP400p38 MAPK Signaling Pathway
WP2377Integrated Pancreatic Cancer Pathway
Pathway Interaction Database
alk1pathwayALK1 signaling events
tgfbrpathwayTGF-beta receptor signaling
glypican_1pathwayGlypican 1 network
Reactome
REACT_6844Signaling by TGF-beta Receptor Complex
REACT_111102Signal Transduction
REACT_116125Disease
REACT_120726TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
REACT_120850TGF-beta receptor signaling activates SMADs
REACT_120727Downregulation of TGF-beta receptor signaling
REACT_169103SMAD2/3 Phosphorylation Motif Mutants in Cancer
REACT_169192TGFBR2 MSI Frameshift Mutants in Cancer
REACT_169440TGFBR2 Kinase Domain Mutants in Cancer
REACT_169165SMAD2/3 MH2 Domain Mutants in Cancer
REACT_169107SMAD4 MH2 Domain Mutants in Cancer
REACT_169311Loss of Function of TGFBR1 in Cancer
REACT_169122Signaling by TGF-beta Receptor Complex in Cancer
REACT_169263TGFBR1 KD Mutants in Cancer
REACT_169435Loss of Function of TGFBR2 in Cancer
REACT_169219Loss of Function of SMAD4 in Cancer
REACT_169398Loss of Function of SMAD2/3 in Cancer
REACT_169445TGFBR1 LBD Mutants in Cancer
Homo sapiens (human)TGFBR1NP_004603.1
Pan troglodytes (chimpanzee)TGFBR1XP_001159299.1
Macaca mulatta (Rhesus monkey)TGFBR1XP_001112621.1
Canis lupus familiaris (dog)TGFBR1XP_538750.4
Bos taurus (cattle)TGFBR1NP_777046.1
Mus musculus (house mouse)Tgfbr1NP_033396.1
Rattus norvegicus (Norway rat)Tgfbr1XP_006238215.1
Gallus gallus (chicken)TGFBR1NP_989577.1
Danio rerio (zebrafish)tgfbr1aNP_001032772.2
Danio rerio (zebrafish)tgfbr1bNP_001108531.1
Drosophila melanogaster (fruit fly)baboNP_476999.1
Xenopus (Silurana) tropicalis (western clawed frog)tgfbr1NP_001015961.1
Process
IDNameEvidence
GO:0000186activation of MAPKK activityIDA
GO:0001501skeletal system developmentISS
GO:0001525angiogenesisIEA
GO:0001701in utero embryonic developmentISS
GO:0001822kidney developmentISS
GO:0001824blastocyst developmentIEA
GO:0001837epithelial to mesenchymal transitionIDA
GO:0001937negative regulation of endothelial cell proliferationIEA
GO:0002088lens development in camera-type eyeIEA
GO:0006355regulation of transcription, DNA-templatedIDA
GO:0006355regulation of transcription, DNA-templatedIMP
GO:0006468protein phosphorylationIDA
GO:0006915apoptotic processIEA
GO:0007050cell cycle arrestTAS
GO:0007165signal transductionIDA
GO:0007179transforming growth factor beta receptor signaling pathwayIC
GO:0007179transforming growth factor beta receptor signaling pathwayIDA
GO:0007179transforming growth factor beta receptor signaling pathwayIMP
GO:0007179transforming growth factor beta receptor signaling pathwayTAS
GO:0007507heart developmentISS
GO:0008284positive regulation of cell proliferationIMP
GO:0008354germ cell migrationISS
GO:0009791post-embryonic developmentIEA
GO:0009952anterior/posterior pattern specificationISS
GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylationIDA
GO:0018105peptidyl-serine phosphorylationIDA
GO:0018107peptidyl-threonine phosphorylationIDA
GO:0023014signal transduction by phosphorylationIEA
GO:0030199collagen fibril organizationISS
GO:0030307positive regulation of cell growthIDA
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathwayTAS
GO:0031396regulation of protein ubiquitinationIDA
GO:0032331negative regulation of chondrocyte differentiationISS
GO:0042060wound healingTAS
GO:0043062extracellular structure organizationTAS
GO:0043066negative regulation of apoptotic processIEA
GO:0043393regulation of protein bindingIEA
GO:0043542endothelial cell migrationIEA
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0048538thymus developmentISS
GO:0048663neuron fate commitmentISS
GO:0048701embryonic cranial skeleton morphogenesisISS
GO:0048705skeletal system morphogenesisISS
GO:0048762mesenchymal cell differentiationTAS
GO:0048844artery morphogenesisISS
GO:0048870cell motilityIMP
GO:0051272positive regulation of cellular component movementIMP
GO:0051491positive regulation of filopodium assemblyIEA
GO:0051897positive regulation of protein kinase B signalingIDA
GO:0060017parathyroid gland developmentISS
GO:0060021palate developmentISS
GO:0060037pharyngeal system developmentISS
GO:0060389pathway-restricted SMAD protein phosphorylationIDA
GO:0060391positive regulation of SMAD protein import into nucleusIDA
GO:0070723response to cholesterolIDA
GO:0071560cellular response to transforming growth factor beta stimulusIDA
GO:2001235positive regulation of apoptotic signaling pathwayIDA
GO:2001237negative regulation of extrinsic apoptotic signaling pathwayIMP
Component
IDNameEvidence
GO:0005886plasma membraneIDA
GO:0005886plasma membraneTAS
GO:0005923tight junctionIDA
GO:0043235receptor complexIDA
GO:0070022transforming growth factor beta receptor homodimeric complexIC
Function
IDNameEvidence
GO:0004672protein kinase activityIDA
GO:0004674protein serine/threonine kinase activityIDA
GO:0004702receptor signaling protein serine/threonine kinase activityIEA
GO:0005024transforming growth factor beta-activated receptor activityIC
GO:0005024transforming growth factor beta-activated receptor activityIDA
GO:0005024transforming growth factor beta-activated receptor activityIMP
GO:0005024transforming growth factor beta-activated receptor activityIMP
GO:0005025transforming growth factor beta receptor activity, type IIDA
GO:0005114type II transforming growth factor beta receptor bindingIDA
GO:0005114type II transforming growth factor beta receptor bindingIPI
GO:0005515protein bindingIPI
GO:0005524ATP bindingIDA
GO:0019838growth factor bindingIPI
GO:0046332SMAD bindingIDA
GO:0046332SMAD bindingIPI
GO:0046872metal ion bindingIEA
GO:0050431transforming growth factor beta bindingIDA
GO:0050431transforming growth factor beta bindingIMP
GO:0050431transforming growth factor beta bindingIPI
GO:0070411I-SMAD bindingIPI
GeneCards TGFBR1
UniProt Q5T7S2, P36897
Vega OTTHUMG00000020353
MIM 190181
Ensembl ENSG00000106799
HGNC 11772
HPRD 01822

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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