OR1D5: Olfactory Receptor Family 1 Subfamily D Member 5
A comprehensive biomedical overview of the OR1D5 gene, including genomic context, expression patterns, and clinical relevance.
Gene Information Card
| Symbol | OR1D5 |
|---|---|
| Full Name | Olfactory Receptor Family 1 Subfamily D Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 8383 ncbi.nlm.nih.gov/gene/8383 |
| Ensembl ID | ENSG00000197462 |
| UniProt ID | P34982 |
| OMIM ID | 611536 |
| HGNC ID | 8187 |
| Aliases | OR17-2, OR1D5P, OR1D5Q |
Description
OR1D5 is a member of the G-protein coupled receptor (GPCR) family, specifically belonging to the olfactory receptor (OR) superfamily. These receptors are primarily expressed in the olfactory epithelium and are responsible for the detection of odorants, initiating a signaling cascade that leads to the perception of smell. The OR1D5 gene is located on the short arm of chromosome 17 (17p13.3) and encodes a seven-transmembrane domain protein. While its primary role is in olfaction, like many olfactory receptors, it may also have ectopic expression and function in other tissues, which is an area of ongoing research.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Potential Role in Cancer | Aberrant expression of olfactory receptors, including OR1D5, has been observed in various cancers. The exact mechanism is not fully understood but may involve activation of downstream signaling pathways that promote cell proliferation, migration, or survival. For example, ectopic OR expression can activate MAPK/ERK or PI3K/AKT pathways. | Limited evidence from expression profiling studies; functional validation is largely lacking. Data from COSMIC and literature suggest altered expression in certain tumor types, but a direct causal role is not established. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HEK 293 | 0.0 | Not detected in standard RNA-seq datasets. |
| HeLa | 0.0 | Not detected in standard RNA-seq datasets. |
| A549 | 0.0 | Not detected in standard RNA-seq datasets. |
| MCF7 | 0.0 | Not detected in standard RNA-seq datasets. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| rs201253747 | SNV (Missense) | Low (Global minor allele frequency < 0.01) | Amino acid substitution (e.g., Valine to Isoleucine). Predicted to be benign or of uncertain significance; no known functional impact on olfaction has been reported. |
| rs144848214 | SNV (Synonymous) | Low (Global minor allele frequency < 0.01) | Silent mutation; does not alter the amino acid sequence. No known clinical significance. |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for OR1D5 in the context of disease. As an olfactory receptor, loss-of-function could theoretically lead to a specific anosmia, but no such phenotype has been definitively linked to this gene.
Gain of Function (GOF)
No gain-of-function mutations have been described for OR1D5. The concept of gain-of-function is less commonly applied to olfactory receptors in a pathological context.
Dominant Negative (DN)
No dominant-negative mutations have been reported for OR1D5.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • integral component of membrane | • plasma membrane |
| • signal transduction | • detection of chemical stimulus involved in sensory perception of smell |
| • G protein-coupled receptor signaling pathway |
Pathways
• Olfactory Signaling Pathway
• GPCR downstream signaling (e.g.
• cAMP-mediated signaling)
Protein Summary
The OR1D5 protein is a 312-amino acid, seven-transmembrane domain receptor. It is a typical class A (rhodopsin-like) GPCR. The protein is localized to the plasma membrane of olfactory sensory neurons. Upon binding to an odorant ligand, the receptor undergoes a conformational change, activating an associated G-protein (Golf). This leads to the activation of adenylyl cyclase, increasing cAMP levels, which in turn opens cyclic nucleotide-gated (CNG) channels, causing an influx of calcium and sodium ions and generating an action potential. The specific odorant ligand for OR1D5 has not been definitively identified, but it is presumed to bind to volatile small molecules.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR1D5 Knockout HEK293 Cell Line | EDJ-KQ6221 | Human | 8386 | Details Get a Quote |
| OR1D5 Knockout HeLa Cell Line | EDJ-KQ54893 | Human | 8386 | Details Get a Quote |
| OR1D5 Knockout A-549 Cell Line | EDJ-KQ63380 | Human | 8386 | Details Get a Quote |
| OR1D5 Knockout HCT 116 Cell Line | EDJ-KQ71848 | Human | 8386 | Details Get a Quote |
