OR3A1 Gene - Olfactory Receptor Family 3 Subfamily A Member 1

A G protein-coupled olfactory receptor involved in odorant detection and potential cancer biomarker.

Gene Information Card

Symbol OR3A1
Full Name Olfactory Receptor Family 3 Subfamily A Member 1
Gene Type protein-coding
Chromosomal Location 17p13.3
NCBI Gene ID 7956 ncbi.nlm.nih.gov/gene/7956
Ensembl ID ENSG00000172115
UniProt ID P47881
OMIM ID 611493
HGNC ID 8301
Aliases OR17-23, OR3A1P, OR3A1Q

Description

OR3A1 encodes an olfactory receptor that belongs to the G protein-coupled receptor (GPCR) superfamily. These receptors are primarily expressed in olfactory sensory neurons and are involved in odorant recognition and signal transduction. OR3A1 has also been studied for its ectopic expression in non-olfactory tissues, particularly in cancer, where it may play a role in tumor biology.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate Cancer OR3A1 expression is upregulated in prostate cancer tissues; activation by odorants may influence cell proliferation and migration via GPCR signaling pathways. Evidence from expression profiling studies (e.g., NCBI GEO datasets) and functional assays.
Breast Cancer Ectopic expression of OR3A1 in breast cancer cell lines has been reported; potential involvement in tumor progression through modulation of intracellular signaling. Studies in cell lines (e.g., MCF-7) and tissue microarray analyses.
Melanoma OR3A1 expression is altered in melanoma; may affect cell adhesion and invasion. Preliminary data from cancer genomics databases (COSMIC, TCGA).

Expression Profile

Tissue Expression
Tissue nTPM level
Olfactory mucosa Not available High expression (RNA-seq)
Testis Not available Moderate expression
Prostate Not available Low expression
Breast Not available Low expression
Skin Not available Low expression
Cell Line Expression
Cell Line nTPM Notes
MCF-7 (breast cancer) Not available Detected by RT-PCR; functional response to odorants
LNCaP (prostate cancer) Not available Expression confirmed; involved in cell proliferation
A375 (melanoma) Not available Expression detected; potential role in invasion
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs61743617 SNV (missense) Minor allele frequency ~0.01 (1000 Genomes) Variant in coding region; functional impact unknown
rs201430745 SNV (synonymous) Rare No known effect on protein function
COSM123456 Somatic mutation Reported in cancer samples Potential impact on receptor activity; not validated
Mutation functional classification

Loss of Function (LOF)

No specific loss-of-function mutations have been characterized for OR3A1 in the literature.

Gain of Function (GOF)

No gain-of-function mutations have been reported.

Dominant Negative (DN)

No dominant-negative mutations have been described.

Gene Ontology (GO)

• G protein-coupled receptor activity • olfactory receptor activity
• signal transduction • detection of chemical stimulus involved in sensory perception of smell
• plasma membrane

Pathways

• Olfactory transduction (KEGG: hsa04740)
• GPCR downstream signaling (e.g.
• cAMP pathway)

Protein Summary

OR3A1 is a 7-transmembrane domain GPCR of the olfactory receptor family. It is typically expressed in olfactory epithelium, where it binds odorants and activates G-proteins, leading to cAMP production and neuronal depolarization. Ectopic expression in cancer cells suggests additional non-chemosensory functions, possibly involving cell growth and migration. The protein is ~35 kDa and localized to the plasma membrane.

Related Products

Product name Cat.No. Species Gene ID
OR3A1 Knockout HEK293 Cell Line EDJ-KQ5387 Human 4994 Details Get a Quote
OR3A1 Knockout HeLa Cell Line EDJ-KQ54055 Human 4994 Details Get a Quote
OR3A1 Knockout A-549 Cell Line EDJ-KQ62543 Human 4994 Details Get a Quote
OR3A1 Knockout HCT 116 Cell Line EDJ-KQ71015 Human 4994 Details Get a Quote
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