OR1E1

Chr 17

olfactory receptor family 1 subfamily E member 1

Also known as: HGM071, OR13-66, OR17-2, OR17-32, OR1E5, OR1E6, OR1E8P, OR1E9P

NCBI Gene: 8387 ENSG00000180016 UniProt: P30953

OR1E1 encodes an olfactory receptor that detects odorant molecules and initiates G-protein-coupled signaling to trigger smell perception. No Mendelian diseases have been definitively associated with OR1E1 mutations in OMIM or major clinical databases. This gene shows low evolutionary constraint with tolerance to loss-of-function variants, consistent with functional redundancy typical of the large olfactory receptor gene family.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.48

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)