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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001130916 Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_004612 Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005252150 PREDICTED: Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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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?

What is the normal function of the TGFBR1 gene?

The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell such as stimulation of cell growth and division.

To carry out its signaling function, TGF-β receptor type 1 spans the cell membrane, so that one end of the protein projects from the outer surface of the cell (the extracellular domain) and the other end remains inside the cell (the intracellular domain). A protein called TGF-β attaches (binds) to the extracellular domain of TGF-β receptor type 1, which turns on (activates) the receptor and allows it to bind to a similar receptor on the cell surface. These three proteins form a complex, which triggers signal transduction by activating other proteins in this signaling pathway.

Signals triggered through the TGF-β receptor complex prompt various responses by the cell, including the growth and division (proliferation) of cells, the maturation of cells to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis). Because TGF-β receptor type 1 keeps cells from growing and dividing too rapidly or in an uncontrolled way, it is also important in suppressing the formation of tumors.

Interactant

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