HTR1E
5-Hydroxytryptamine Receptor 1E
Gene Information Card
| Symbol | HTR1E |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 1E |
| Gene Type | protein-coding |
| Chromosomal Location | 6q14.3 |
| NCBI Gene ID | 3354 ncbi.nlm.nih.gov/gene/3354 |
| Ensembl ID | ENSG00000168830 |
| UniProt ID | P28566 |
| OMIM ID | 182133 |
| HGNC ID | 5290 |
| Aliases | 5-HT1E, 5-HT-1E, S31 |
Description
HTR1E is a member of the 5-hydroxytryptamine (serotonin) receptor family, specifically the 5-HT1 subtype. It encodes a G-protein-coupled receptor that inhibits adenylyl cyclase activity. The receptor is predominantly expressed in the central nervous system, particularly in the cortex, hippocampus, and striatum, and is involved in modulating neurotransmitter release and neuronal excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Major Depressive Disorder | Altered serotonergic signaling via 5-HT1E may contribute to mood dysregulation | Genetic association studies (PMID: 12815588) |
| Schizophrenia | Dysregulation of 5-HT1E expression in prefrontal cortex linked to cognitive symptoms | Postmortem brain analysis (PMID: 10432246) |
| Obsessive-Compulsive Disorder | Potential role in cortico-striatal circuits | Candidate gene studies (PMID: 16936799) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral Cortex | 4.2 | Medium |
| Hippocampus | 3.8 | Medium |
| Striatum | 3.5 | Medium |
| Cerebellum | 1.1 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
| U-87 MG | 1.5 | Glioblastoma cell line |
| HEK293 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • G-protein coupled receptor activity | • serotonin receptor activity |
| • adenylate cyclase inhibiting G-protein coupled receptor signaling pathway | • chemical synaptic transmission |
| • nervous system development |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
The 5-HT1E receptor is a 365-amino acid protein with seven transmembrane domains typical of GPCRs. It couples to Gi/Go proteins, inhibiting cAMP production upon serotonin binding. The receptor is highly conserved in mammals and plays a role in modulating synaptic plasticity and neuronal firing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR1E Knockout HEK293 Cell Line | EDJ-KQ1785 | Human | 3354 | Details Get a Quote |
| HTR1E Knockout HeLa Cell Line | EDJ-KQ53589 | Human | 3354 | Details Get a Quote |
| HTR1E Knockout A-549 Cell Line | EDJ-KQ62057 | Human | 3354 | Details Get a Quote |
| HTR1E Knockout HCT 116 Cell Line | EDJ-KQ70539 | Human | 3354 | Details Get a Quote |
