HRH1: Histamine Receptor H1
A key G protein-coupled receptor mediating histamine signaling in allergic and inflammatory responses.
Gene Information Card
| Symbol | HRH1 |
|---|---|
| Full Name | Histamine Receptor H1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 3269 ncbi.nlm.nih.gov/gene/3269 |
| Ensembl ID | ENSG00000196639 |
| UniProt ID | P35367 |
| OMIM ID | 600167 |
| HGNC ID | 5182 |
| Aliases | H1R, H1-R, hisH1 |
Description
HRH1 encodes the histamine H1 receptor, a G protein-coupled receptor (GPCR) that mediates the effects of histamine. It is primarily involved in allergic and inflammatory responses, including bronchoconstriction, vasodilation, and pruritus. The receptor is a target for antihistamine drugs used to treat allergies and motion sickness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Allergic rhinitis | HRH1 activation by histamine induces nasal congestion, sneezing, and itching via Gq/11-mediated signaling. | ClinVar, OMIM |
| Urticaria | Histamine binding to HRH1 on mast cells and endothelial cells causes wheal-and-flare reactions. | ClinVar, OMIM |
| Asthma | HRH1-mediated bronchial smooth muscle contraction contributes to airway hyperresponsiveness. | NCBI Gene, OMIM |
| Atopic dermatitis | HRH1 signaling in skin keratinocytes and immune cells promotes pruritus and inflammation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Skin | 6.7 | Low |
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in recombinant systems |
| A549 | 7.8 | Lung epithelial cell line |
| HUVEC | 5.4 | Endothelial cells |
| Jurkat | 2.1 | T-cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.68C>T (p.Pro23Leu) | Missense | 0.01% | Reduced receptor expression and signaling |
| c.314A>G (p.Asn105Ser) | Missense | 0.005% | Altered ligand binding affinity |
| c.1066G>A (p.Glu356Lys) | Missense | 0.02% | Impaired G protein coupling |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Pro23Leu reduce cell surface expression and histamine-induced calcium mobilization.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in HRH1.
Dominant Negative (DN)
No dominant-negative mutations described for HRH1.
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • histamine receptor activity |
| • Gq/11-coupled receptor activity | • plasma membrane |
| • inflammatory response | • positive regulation of vasodilation |
| • positive regulation of smooth muscle contraction |
Pathways
• Histamine signaling pathway
• G alpha (q) signaling events
• Inflammatory mediator regulation of TRP channels
• Calcium signaling pathway
Protein Summary
The HRH1 protein is a 487-amino acid GPCR with seven transmembrane domains. It couples primarily to Gq/11 proteins, activating phospholipase C and increasing intracellular calcium. It is expressed in smooth muscle, endothelium, and immune cells, and is a major drug target for antihistamines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HRH1 Knockout HEK293 Cell Line | EDJ-KQ1590 | Human | 3269 | Details Get a Quote |
| HRH1 Knockout A-549 Cell Line | EDJ-KQ21273 | Human | 3269 | Details Get a Quote |
| HRH1 Knockout HCT 116 Cell Line | EDJ-KQ21274 | Human | 3269 | Details Get a Quote |
| HRH1 Knockout HeLa Cell Line | EDJ-KQ21275 | Human | 3269 | Details Get a Quote |
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