OR1K1

Chr 9

olfactory receptor family 1 subfamily K member 1

Also known as: hg99

NCBI Gene: 392392ENSG00000165204UniProt: Q8NGR3

The OR1K1 protein is an olfactory receptor that recognizes odorant molecules and mediates smell perception through G-protein-coupled signaling in nasal sensory neurons. This gene has very low constraint against loss-of-function variants and is not currently associated with any known pediatric neurogenetic disorders. Olfactory receptor genes represent the largest gene family in the human genome but are generally not implicated in clinical disease.

ResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.55
Clinical Summary— OR1K1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
29 unique Pathogenic / Likely Pathogenic· 61 VUS of 94 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.55LOEUF
pLI 0.001
Z-score 0.57
OE 0.76 (0.40–1.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.02Z-score
OE missense 1.00 (0.89–1.13)
190 obs / 189.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.76 (0.40–1.55)
0≤0.351.4
Missense OE1.00 (0.89–1.13)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 5 / 6.6Missense obs/exp: 190 / 189.4Syn Z: -0.69
DN
0.90top 5%
GOF
0.87top 5%
LOF
0.10100th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

94 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic1
VUS61
Likely Benign4
28
Pathogenic
1
Likely Pathogenic
61
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
28
0
28
Likely Pathogenic
0
0
1
0
1
VUS
0
58
3
0
61
Likely Benign
0
3
0
1
4
Benign
0
0
0
0
0
Total06132194

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR1K1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
TTLL11 gene is associated with sustained attention performance and brain networks: A genome-wide association study of a healthy Chinese sample
Liu H et al.·Genes Brain Behav
2023
Genome-wide scans for signatures of selection in Mangalarga Marchador horses using high-throughput SNP genotyping
Santos WB et al.·BMC Genomics
2021
Genomic pan-cancer classification using image-based deep learning
Ye T et al.·Comput Struct Biotechnol J
2021
Genome-Wide Scanning for Signatures of Selection Revealed the Putative Genomic Regions and Candidate Genes Controlling Milk Composition and Coat Color Traits in Sahiwal Cattle
Illa SK et al.·Front Genet
2021
Homo sapiens, Homo neanderthalensis and the Denisova specimen: New insights on their evolutionary histories using whole-genome comparisons
Paixão-Côrtes VR et al.·Genet Mol Biol
2012
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients