OR14I1

Chr 1

olfactory receptor family 14 subfamily I member 1

Also known as: OR5BU1, OR5BU1P

NCBI Gene: 401994 ENSG00000189181 UniProt: A6ND48 OMIM: 618516

The protein functions as an odorant receptor that recognizes smell molecules and initiates G protein-mediated signal transduction through its 7-transmembrane domain structure. Gain-of-function mutations are predicted to cause disease, though specific associated neurological conditions and inheritance patterns have not been established for this olfactory receptor gene.

OMIM ResearchSummary from RefSeq, UniProt, Mechanism

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)