OR1A1

Olfactory Receptor Family 1 Subfamily A Member 1

Gene Information Card

Symbol OR1A1
Full Name Olfactory Receptor Family 1 Subfamily A Member 1
Gene Type protein-coding
Chromosomal Location 17p13.3
NCBI Gene ID 8383 ncbi.nlm.nih.gov/gene/8383
Ensembl ID ENSG00000184933
UniProt ID Q9P1Q5
OMIM ID 618047
HGNC ID 8183
Aliases OR17-6, OR1A1P, OR1A1Q

Description

OR1A1 (Olfactory Receptor Family 1 Subfamily A Member 1) is a protein-coding gene that belongs to the G protein-coupled receptor (GPCR) family of olfactory receptors. These receptors are responsible for the detection of odorants in the nasal epithelium. OR1A1 is known to respond to specific odorants such as carvone and other volatile compounds. The gene is located on chromosome 17p13.3 and is expressed in olfactory epithelium and various non-olfactory tissues, suggesting potential roles beyond olfaction.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No curated disease associations Not established No evidence

Expression Profile

Tissue Expression
Tissue nTPM level
Olfactory mucosa Not available High
Testis Not available Medium
Lung Not available Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 Not available Used in functional studies
HeLa Not available Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs61732668 missense 0.1% (gnomAD) Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function variants reported

Gain of Function (GOF)

No confirmed gain-of-function variants reported

Dominant Negative (DN)

No confirmed dominant-negative variants reported

Gene Ontology (GO)

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

Pathways

• Olfactory transduction (KEGG: hsa04740)

Protein Summary

OR1A1 encodes a 312-amino acid olfactory receptor protein with seven transmembrane domains, characteristic of GPCRs. It is involved in odorant recognition and signal transduction via G proteins. The protein is localized to the plasma membrane of olfactory sensory neurons.

Related Products

Product name Cat.No. Species Gene ID
OR1A1 Knockout HEK293 Cell Line EDJ-KQ6220 Human 8383 Details Get a Quote
OR1A1 Knockout HeLa Cell Line EDJ-KQ54892 Human 8383 Details Get a Quote
OR1A1 Knockout A-549 Cell Line EDJ-KQ63379 Human 8383 Details Get a Quote
OR1A1 Knockout HCT 116 Cell Line EDJ-KQ71847 Human 8383 Details Get a Quote
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