TGF-beta receptor type-1; transforming growth factor-beta receptor type I; TGF-beta receptor type I; TGF-beta type I receptor; TbetaR-I; TGFR-1; serine/threonine protein kinase receptor R4; SKR4; activin receptor-like kinase 5; ALK-5 (TGFBR1)

Function

• receptor for TGF-beta
• TGF-beta receptor-1 & TGF-beta receptor-2 form heteromeric complex after binding of TGF-beta
• on ligand binding, forms a receptor complex consisting of two type 2 & two type 1 transmembrane Ser/Thr kinases
• the type 2 receptors phosphorylate & activate type 1 receptors which autophosphorylate, then bind & activate SMAD transcriptional regulators
  • interacts with CD109
• the unphosphorylated protein interacts with FKBP1A
• phosphorylation of the GS region abrogates FKBP1A binding
• interacts with SMAD2 when phosphorylated on several residues in the GS region
• phosphorylated at basal levels in the absence of ligand binding
• activated by multiple phosphorylation, mainly in the GS region

Cofactor: Mg+2 or Mn+2 (putative)

Structure

• belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
• contains 1 GS domain
• contains 1 protein kinase domain

Compartment

membrane

Expression

• found in all tissues examined
• most abundant in placenta
• least abundant in brain & heart

Pathology

• defects in TGFBR1 are the cause of syndromes associated with aortic aneurysm:
  • Loeys-Dietz syndrome type 1A
  • Loeys-Dietz syndrome type 2A
  • aortic aneurysm familial thoracic type 5

More general terms

• protein subunit
• tgf beta receptor
• serine/threonine kinase receptor
• activin receptor like kinase (ALK)

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7046
• OMIM: https://mirror.omim.org/entry/190181
• OMIM: https://mirror.omim.org/entry/608967
• OMIM: https://mirror.omim.org/entry/609192
• UniProt: http://www.uniprot.org/uniprot/P36897.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7046