TGFBR1

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]

Description

transforming growth factor beta receptor 1

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas)

Chromosome

9:q22.33 (99104038 - 99154192)

Ensembl ID

ENSG00000106799  (ver. 99.38)

Orthologs

Mouse Tgfbr1: ENSMUSG00000007613

UniProt

P36897

neXtProt

NX_P36897

Human splice variants
Mouse splice variants