Protein Name transforming growth factor beta receptor 1
Organism Homo sapiens
Gene ID 7046
Gene Symbol

TGFBR1

UniProt P36897 (TGFR1_HUMAN), B4DY26 (B4DY26_HUMAN), Q5T7S2 (Q5T7S2_HUMAN), B4DXN7 (B4DXN7_HUMAN)
Relationships Total Number of functionally related compound(s) : 324
Total Number of Articles : 437
Description

transforming growth factor beta receptor 1

Gene 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]

synonyms
  • TGF-beta receptor type-1
  • activin A receptor type II-like kinase, 53kDa
  • activin A receptor type II-like protein kinase of 53kD
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Properties