HTR1B
5-Hydroxytryptamine Receptor 1B
Gene Information Card
| Symbol | HTR1B |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 3351 ncbi.nlm.nih.gov/gene/3351 |
| Ensembl ID | ENSG00000135312 |
| UniProt ID | P28222 |
| OMIM ID | 182131 |
| HGNC ID | 5288 |
| Aliases | 5-HT1B, 5-HT1DB, S12, HTR1DB |
Description
HTR1B encodes the 5-hydroxytryptamine (serotonin) receptor 1B, a G-protein-coupled receptor that inhibits adenylyl cyclase activity. It is expressed in the central nervous system and peripheral tissues, modulating neurotransmitter release, vasoconstriction, and behavior. Variants in HTR1B are associated with psychiatric disorders and migraine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Migraine (with aura) | Altered receptor function affects trigeminal nociception and vascular tone | PMID: 11566896 |
| Major depressive disorder | Polymorphisms influence serotonergic signaling and antidepressant response | PMID: 17997367 |
| Substance dependence | Modulation of reward pathways via presynaptic inhibition | PMID: 18342288 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cortex) | 5.2 | Medium |
| Brain (cerebellum) | 3.8 | Low |
| Heart | 1.1 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.3 | Neuroblastoma cell line |
| HEK293 | 0.1 | Low expression |
| U-87 MG | 1.0 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs6296 (G861C) | SNP | 0.30 (global) | Alters receptor expression and binding affinity |
| rs130058 (A-161T) | SNP | 0.15 | Associated with altered promoter activity |
Mutation functional classification
Loss of Function (LOF)
rs6296 (G861C) reduces receptor density and signaling efficiency.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • serotonin binding |
| • adenylate cyclase inhibiting G protein-coupled receptor signaling pathway | • synaptic transmission |
| • serotonergic | • presynaptic modulation of chemical synaptic transmission |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
The 5-HT1B receptor is a 390-amino acid integral membrane protein with seven transmembrane domains. It couples to Gi/Go proteins, inhibiting cAMP production. It functions as a presynaptic autoreceptor and heteroreceptor, regulating serotonin and other neurotransmitter release. The receptor is a target for triptan drugs used in migraine therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR1B Knockout HEK293 Cell Line | EDJ-KQ1121 | Human | 3351 | Details Get a Quote |
| HTR1B Knockout HeLa Cell Line | EDJ-KQ53587 | Human | 3351 | Details Get a Quote |
| HTR1B Knockout A-549 Cell Line | EDJ-KQ62055 | Human | 3351 | Details Get a Quote |
| HTR1B Knockout HCT 116 Cell Line | EDJ-KQ70537 | Human | 3351 | Details Get a Quote |
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