OR10J1 Gene: Olfactory Receptor 10J1

Genetic and Functional Insights into OR10J1, a Human Olfactory Receptor

Gene Information Card

Symbol OR10J1
Full Name Olfactory Receptor Family 10 Subfamily J Member 1
Gene Type protein-coding
Chromosomal Location 1q23.2
NCBI Gene ID 441884 ncbi.nlm.nih.gov/gene/441884
Ensembl ID ENSG00000198223
UniProt ID Q8NGY2
OMIM ID Not available
HGNC ID HGNC:19655
Aliases OR10J1P, OR10J1_1

Description

OR10J1 is a human olfactory receptor gene that encodes a G-protein-coupled receptor (GPCR) involved in the detection of odorants. Olfactory receptors are expressed in the cilia of olfactory sensory neurons and initiate a signaling cascade that leads to the perception of smell. OR10J1 belongs to the olfactory receptor family 10, subfamily J, member 1. The gene is located on chromosome 1q23.2 and is part of a large cluster of olfactory receptor genes. While its specific odorant ligands are not fully characterized, it is presumed to play a role in chemosensory perception. The protein is a seven-transmembrane domain receptor that couples to G-proteins, typically Gαolf, to activate adenylyl cyclase and increase cAMP levels, ultimately opening cyclic nucleotide-gated channels and triggering neuronal depolarization.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Disease Mechanism Evidence
No specific disease association Not established No direct evidence from ClinVar or OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Tissue nTPM Level
Nasal mucosa Not available Expected expression (olfactory tissue)
Other tissues Not available Low or no expression (based on GTEx data, not specifically reported)
Cell Line Expression
Cell Line nTPM Notes
Cell Line nTPM Notes
No specific cell line data Not available No data from Human Protein Atlas or other sources
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
Variant Type Frequency Effect
No clinically significant variants reported Not applicable Not applicable No known pathogenic variants
Mutation functional classification

Loss of Function (LOF)

No specific loss-of-function mutations have been characterized for OR10J1.

Gain of Function (GOF)

No gain-of-function mutations have been reported.

Dominant Negative (DN)

No dominant-negative effects 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 • integral component of membrane

Pathways

• Olfactory transduction pathway (KEGG: hsa04740)

Protein Summary

OR10J1 is a 312-amino acid protein with a molecular weight of approximately 35 kDa. It features seven transmembrane alpha-helices characteristic of GPCRs. The protein is localized to the plasma membrane of olfactory cilia. Its function is to bind odorant molecules and activate G-proteins, initiating a signaling cascade that results in an action potential in the olfactory neuron. The specific odorants recognized by OR10J1 are not yet identified, but it is likely involved in detecting volatile chemicals. The protein has an extracellular N-terminus and an intracellular C-terminus, with conserved motifs typical of olfactory receptors, such as the DRY motif in the second intracellular loop and a glycosylation site in the N-terminus.

Related Products

Product name Cat.No. Species Gene ID
OR10J1 Knockout HEK293 Cell Line EDJ-KQ8527 Human 26476 Details Get a Quote
OR10J1 Knockout HeLa Cell Line EDJ-KQ55936 Human 26476 Details Get a Quote
OR10J1 Knockout A-549 Cell Line EDJ-KQ64424 Human 26476 Details Get a Quote
OR10J1 Knockout HCT 116 Cell Line EDJ-KQ72878 Human 26476 Details Get a Quote
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