OR1A1

Chr 17

olfactory receptor family 1 subfamily A member 1

Also known as: OR17-7

NCBI Gene: 8383ENSG00000172146UniProt: Q9P1Q5

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]

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ClinVar variants
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Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— OR1A1
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.74LOEUF
pLI 0.000
Z-score 0.10
OE 0.96 (0.52–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.60Z-score
OE missense 1.13 (1.00–1.28)
187 obs / 165.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.96 (0.52–1.74)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.13 (1.00–1.28)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.13
0≤1.21.6
LoF obs/exp: 6 / 6.3Missense obs/exp: 187 / 165.4Syn Z: -0.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OR1A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Molecular mechanism of activation of human musk receptors OR5AN1 and OR1A1 by (R)-muscone and diverse other musk-smelling compounds.
Ahmed L et al.·Proc Natl Acad Sci U S A
2018Functional
A sensitive split luciferase assay for detecting olfactory receptor response to odorants.
Tanazawa N et al.·Anal Biochem
2025
Odorants have the potential to enhance the heterologous expression of human olfactory receptors: Evidence from ethyl 3-phenylglycidate and its effects on OR1A1, OR11G2, and OR2W1.
Ojiro I et al.·Biochem Biophys Res Commun
2025
Studying Haloanisoles Interaction with Olfactory Receptors.
Silva Teixeira CS et al.·ACS Chem Neurosci
2016
A genetic platform for functionally profiling odorant receptors in olfactory cilia ex vivo.
Omura M et al.·Sci Signal
2022Functional
Selectively Fluorinated Citronellol Analogues Support a Hydrogen Bonding Donor Interaction with the Human OR1A1 Olfactory Receptor.
He M et al.·Org Lett
2022
Structural determinants of odorant recognition by the human olfactory receptors OR1A1 and OR1A2.
Schmiedeberg K et al.·J Struct Biol
2007
Activation of OR1A1 suppresses PPAR-γ expression by inducing HES-1 in cultured hepatocytes.
Wu C et al.·Int J Biochem Cell Biol
2015
Exploring Linear mono-, bis- and tris-Acetylene Containing Agonists of the Human Olfactory Receptor OR1A1.
Liu W et al.·J Med Chem
2025
Statistical physics modeling and interpretation of the adsorption of enantiomeric terpenes onto the human olfactory receptor OR1A1.
Ben Khemis I et al.·Int J Biol Macromol
2021Functional
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

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External Resources

Links to major genomics databases and tools