Transforming Growth Factor Beta Receptor I (TGFbR1)

ACVRLK4; AAT5; ALK5; SKR4; TGFR-1; Activin A Receptor Type II-Like Kinase 53kDa; Activin receptor-like kinase 5; Serine/threonine-protein kinase receptor R4

SPN	W406
HGNC	11772
MGI	98728
PubMed	20813212
RGD	3852
UniProt	P36897
Wiki	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).TGFB1 regulates cell cycle progression by a unique signaling mechanism that involves its binding to TGFBR2 and activation of TGFBR1. Both are transmembrane serine/threonine receptor kinases. The TGFBR1 receptor may be inactivated in many of the cases of human tumor cells refractory to TGFB-mediated cell cycle arrest. Vellucci and Reiss (1997) reported that the TGFBR1 gene is approximately 31 kb long and contains 9 exons.

Reference

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"MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma."
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"MADR2 is a substrate of the TGFbeta receptor and its phosphorylation is required for nuclear accumulation and signaling."
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"Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1."
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