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Description for Protein TGFBR1

transforming growth factor, beta receptor 1
164 total interacting proteins; 78 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • GS: GS motif
  • S_T_kinase: Serine/Threonine protein kinases, catalytic domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.30
    KEGG - Orthology:
    K04674
    KEGG - Pathway(s):
    hsa04010; hsa04060; hsa04144; hsa04350; hsa04520; hsa05142; hsa05200; hsa05210; hsa05212; hsa05220
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ALK5; SKR4; TGFR-1; ACVRLK4; TGF beta receptor 1; TGF-beta type I receptor; Activin receptor like kinase 5; Activin A receptor type II-like kinase 53kD; Serine-threonine protein kinase receptor R4
    Approved Symbol:
    TGFBR1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 14
    Human (de-) phosphorylation sites: 14; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 4
    Human phosphorylation targets: 4; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • 2-(6-methylpyridin-2-yl)-N-pyridin-4-ylquinazolin-4-amine(db);
  • 3-(4-Fluorophenyl)-2-(6-Methylpyridin-2-Yl)-5,6-Dihydro-4h-Pyrrolo[1,2-B]Pyrazole(db);
  • 4-(3-Pyridin-2-Yl-1h-Pyrazol-4-Yl)Quinoline(db);
  • N-1H-indazol-5-yl-2-(6-methylpyridin-2-yl)quinazolin-4-amine(db);
  • N-[4-(5-fluoro-6-methylpyridin-2-yl)-5-quinoxalin-6-yl-1H-imidazol-2-yl]acetamide(db);
  • Naphthyridine Inhibitor(db)

    Associated Genetic Diseases:

  • Aortic aneurysm, thoracic 5(Pd);
  • Furlong syndrome(Pd);
  • Loeys-Dietz syndrome(Pd);
  • Loeys-Dietz syndrome, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 01822 Entrez Gene ID: 7046 OMIM ID: 190181 Swissprot Accession: Q5T7S2; P36897; Q6IR47;