TGF beta receptor 1

Transforming growth factor, beta receptor 1
PDB rendering based on 1b6c.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1B6C, 1IAS, 1PY5, 1RW8, 1TBI, 1VJY, 2L5S, 2PJY, 2WOT, 2WOU, 2X7O, 3FAA, 3GXL, 3HMM, 3KCF, 3KFD, 3TZM, 4X0M, 4X2J, 4X2K, 4X2N
Identifiers
Symbols	TGFBR1 ; AAT5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; SKR4; TGFR-1; tbetaR-I
External IDs	OMIM: 190181 MGI: 98728 HomoloGene: 3177 ChEMBL: 4439 GeneCards: TGFBR1 Gene
EC number	2.7.11.30
Gene ontology Molecular function • protein kinase activity • protein serine/threonine kinase activity • receptor signaling protein serine/threonine kinase activity • transforming growth factor beta-activated receptor activity • transforming growth factor beta receptor activity, type I • receptor signaling protein activity • type II transforming growth factor beta receptor binding • protein binding • ATP binding • growth factor binding • SMAD binding • metal ion binding • transforming growth factor beta binding • I-SMAD binding Cellular component • intracellular • cell • endosome • plasma membrane • bicellular tight junction • membrane • receptor complex • transforming growth factor beta receptor homodimeric complex Biological process • activation of MAPKK activity • skeletal system development • angiogenesis • in utero embryonic development • kidney development • blastocyst development • epithelial to mesenchymal transition • negative regulation of endothelial cell proliferation • positive regulation of endothelial cell proliferation • lens development in camera-type eye • regulation of transcription, DNA-templated • protein phosphorylation • apoptotic process • cell cycle arrest • signal transduction • transforming growth factor beta receptor signaling pathway • heart development • positive regulation of cell proliferation • germ cell migration • male gonad development • post-embryonic development • anterior/posterior pattern specification • regulation of gene expression • positive regulation of gene expression • regulation of epithelial to mesenchymal transition • positive regulation of pathway-restricted SMAD protein phosphorylation • peptidyl-serine phosphorylation • peptidyl-threonine phosphorylation • signal transduction by protein phosphorylation • collagen fibril organization • positive regulation of cell growth • negative regulation of transforming growth factor beta receptor signaling pathway • regulation of protein ubiquitination • negative regulation of chondrocyte differentiation • activin receptor signaling pathway • intracellular signal transduction • wound healing • endothelial cell activation • extracellular structure organization • regulation of protein binding • endothelial cell migration • positive regulation of transcription, DNA-templated • thymus development • neuron fate commitment • embryonic cranial skeleton morphogenesis • skeletal system morphogenesis • mesenchymal cell differentiation • artery morphogenesis • cell motility • positive regulation of cellular component movement • positive regulation of filopodium assembly • positive regulation of protein kinase B signaling • parathyroid gland development • palate development • pharyngeal system development • cardiac epithelial to mesenchymal transition • pathway-restricted SMAD protein phosphorylation • positive regulation of SMAD protein import into nucleus • response to cholesterol • cellular response to transforming growth factor beta stimulus • positive regulation of apoptotic signaling pathway • negative regulation of extrinsic apoptotic signaling pathway Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7046	21812
Ensembl	ENSG00000106799	ENSMUSG00000007613
UniProt	P36897	Q64729
RefSeq (mRNA)	NM_001130916	NM_009370
RefSeq (protein)	NP_001124388	NP_033396
Location (UCSC)	Chr 9: 99.1 – 99.15 Mb	Chr 4: 47.35 – 47.41 Mb
PubMed search	[1]	[2]

Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) is a TGF beta receptor. TGFBR1 is its human gene.

Function

See also: TGF beta signaling pathway

The protein encoded by this gene forms a heteromeric complex with type II TGF-β receptors when bound to TGF-β, transducing the TGF-β 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 (LDS, LDAS).

Interactions

TGF beta receptor 1 has been shown to interact with:

• Caveolin 1,
• Endoglin,
• FKBP1A,
• FNTA,
• Heat shock protein 90kDa alpha (cytosolic), member A1
• Mothers against decapentaplegic homolog 7,
• PPP2R2A,
• STRAP,
• TGF beta 1, and
• TGF beta receptor 2.

Inhibitors

• GW-788,388
• LY-2109761
• Galunisertib (LY-2157299)
• SB-431,542
• SB-525,334

See also

• TGF beta receptors

External links

• GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections
• GeneReviews/NCBI/NIH/UW entry on Loeys-Dietz Syndrome