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.
View complete mutation data:
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 Services
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 |