OR5H1
Chr 3olfactory receptor family 5 subfamily H member 1
Also known as: HSHTPCRX14, HTPCRX14
OR5H1 encodes an olfactory receptor that binds odorant molecules in the nose and initiates G-protein-coupled signaling to trigger smell perception. This gene is extremely tolerant to loss-of-function mutations (pLI near 0, high LOEUF score), and no Mendelian diseases have been associated with OR5H1 mutations. Like most olfactory receptor genes, OR5H1 variants are unlikely to cause clinically significant phenotypes due to functional redundancy within the large olfactory receptor gene family.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OR5H1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools