HTR1D
5-Hydroxytryptamine Receptor 1D
Gene Information Card
| Symbol | HTR1D |
|---|---|
| Full Name | 5-Hydroxytryptamine Receptor 1D |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 3352 ncbi.nlm.nih.gov/gene/3352 |
| Ensembl ID | ENSG00000179546 |
| UniProt ID | P28221 |
| OMIM ID | 182133 |
| HGNC ID | 5290 |
| Aliases | 5-HT1D, 5-HT1DA, HTR1DA, 5-HT1Dbeta |
Description
HTR1D encodes the 5-hydroxytryptamine (serotonin) receptor 1D, a G protein-coupled receptor (GPCR) that binds serotonin (5-HT). This receptor is primarily expressed in the central nervous system and mediates inhibitory neurotransmission via Gi/Go proteins, reducing cAMP levels. It is involved in the regulation of neurotransmitter release, vasoconstriction, and pain perception. HTR1D is a target for triptan drugs used in migraine therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Migraine (with or without aura) | Receptor activation by triptans constricts cranial blood vessels and inhibits trigeminal nerve firing | ClinVar, OMIM |
| Cluster headache | Similar mechanism as migraine; triptans used for acute treatment | OMIM |
| Anxiety disorders | Modulation of serotonergic signaling in limbic system | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 2.1 | Low |
| Brain (cerebellum) | 1.5 | Low |
| Brain (hippocampus) | 3.0 | Low |
| Brain (substantia nigra) | 4.2 | Medium |
| Spinal cord | 1.8 | Low |
| Testis | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.2 | Low expression |
| U-87 MG (glioblastoma) | 0.8 | Very low |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274G>A (p.Gly92Ser) | missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.455C>T (p.Thr152Met) | missense | 0.005% (gnomAD) | Unknown; predicted possibly damaging (in silico) |
| c.1003G>A (p.Val335Ile) | missense | 0.02% (gnomAD) | Unknown; predicted benign |
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 dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • serotonin binding |
| • serotonin receptor activity | • adenylate cyclase inhibition |
| • G protein-coupled serotonin receptor signaling pathway | • chemical synaptic transmission |
| • nervous system development |
Pathways
• Serotonergic synapse (KEGG: hsa04726)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
The 5-HT1D receptor is a 377-amino acid protein with seven transmembrane domains typical of GPCRs. It couples to Gi/Go proteins, inhibiting adenylyl cyclase and reducing intracellular cAMP. The receptor is expressed in brain regions involved in mood, pain, and motor control. It is a key target for triptans (e.g., sumatriptan) used in acute migraine treatment. No major somatic mutations are reported in COSMIC; germline variants are rare and of uncertain significance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HTR1D Knockout HEK293 Cell Line | EDJ-KQ50373 | Human | 3352 | Details Get a Quote |
| HTR1D Knockout HeLa Cell Line | EDJ-KQ53588 | Human | 3352 | Details Get a Quote |
| HTR1D Knockout A-549 Cell Line | EDJ-KQ62056 | Human | 3352 | Details Get a Quote |
| HTR1D Knockout HCT 116 Cell Line | EDJ-KQ70538 | Human | 3352 | Details Get a Quote |
