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.

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 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
Displaying Records 1 To 4 Of 4 Records
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