TAS1R1

Chr 1

taste 1 receptor member 1

Also known as: GM148, GPR70, T1R1, TR1

NCBI Gene: 80835 ENSG00000173662 UniProt: Q7RTX1 OMIM: 606225

The protein is a G protein-coupled receptor that forms the TAS1R1+3 heterodimeric amino acid taste receptor, which responds to L-amino acids and umami taste stimuli like monosodium glutamate. This gene is not well-established as a cause of human disease, as loss-of-function variants are extremely well-tolerated in the population (pLI ~0). Any potential phenotypes would likely involve taste perception abnormalities rather than neurological disease.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.17

LOEUF

Multiple*

Mechanism· predicted