HRH1 histamine receptor H1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HRH1provided by HGNC
Official Full Name: histamine receptor H1provided by HGNC
Primary source: HGNC:HGNC:5182
See related: Ensembl:ENSG00000196639 MIM:600167; AllianceGenome:HGNC:5182
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H1R; H1-R; HH1R; hisH1
Summary: Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]
Expression: Ubiquitous expression in brain (RPKM 4.0), urinary bladder (RPKM 3.8) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (11137238..11263557)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (11131678..11258484)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (11178924..11305243)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Histamine H1 Receptor-Mediated JNK Phosphorylation Is Regulated by Gq Protein-Dependent but Arrestin-Independent Pathways.
Title: Histamine H(1) Receptor-Mediated JNK Phosphorylation Is Regulated by G(q) Protein-Dependent but Arrestin-Independent Pathways.
Histamine H1- and H4-receptor expression in human colon-derived cell lines.
Title: Histamine H(1)- and H(4)-receptor expression in human colon-derived cell lines.
Pharmacological Characterization of the Zebrafish (Danio Rerio) Histamine H1 Receptor Reveals the Involvement of the Second Extracellular Loop in the Binding of Histamine.
Title: Pharmacological Characterization of the Zebrafish (Danio Rerio) Histamine H(1) Receptor Reveals the Involvement of the Second Extracellular Loop in the Binding of Histamine.
Differential regulation of histamine H1 receptor-mediated ERK phosphorylation by Gq proteins and arrestins.
Title: Differential regulation of histamine H(1) receptor-mediated ERK phosphorylation by G(q) proteins and arrestins.
Simultaneous activation of CXC chemokine receptor 4 and histamine receptor H1 enhances calcium signaling and cancer cell migration.
Title: Simultaneous activation of CXC chemokine receptor 4 and histamine receptor H1 enhances calcium signaling and cancer cell migration.
Molecular Signaling and Transcriptional Regulation of Histamine H1 Receptor Gene.
Title: Molecular Signaling and Transcriptional Regulation of Histamine H(1) Receptor Gene.
Epigallocatechin gallate stimulated histamine production and downregulated histamine H1 receptor in oral cancer cell lines expressing histidine decarboxylase.
Title: Epigallocatechin gallate stimulated histamine production and downregulated histamine H1 receptor in oral cancer cell lines expressing histidine decarboxylase.
P2X4 Receptors Mediate Ca(2+) Release from Lysosomes in Response to Stimulation of P2X7 and H1 Histamine Receptors.
Title: P2X4 Receptors Mediate Ca(2+) Release from Lysosomes in Response to Stimulation of P2X7 and H(1) Histamine Receptors.
Analysis of Missense Variants in the Human Histamine Receptor Family Reveals Increased Constitutive Activity of E410(6.30x30)K Variant in the Histamine H1 Receptor.
Title: Analysis of Missense Variants in the Human Histamine Receptor Family Reveals Increased Constitutive Activity of E410(6.30×30)K Variant in the Histamine H(1) Receptor.
Histamine receptor 1 is expressed in leukaemic cells and affects differentiation sensitivity.
Title: Histamine receptor 1 is expressed in leukaemic cells and affects differentiation sensitivity.

Submit: New GeneRIF Correction See all GeneRIFs (84)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

D3S3461 (e-PCR)
- UniSTS:153907

SHGC-132075 (e-PCR)
- UniSTS:173890

RH79740 (e-PCR)
- UniSTS:88396

HRH1_1003 (e-PCR)
- UniSTS:277327

HRH1_V259 (e-PCR)
- UniSTS:277327

SHGC-148056 (e-PCR)
- UniSTS:172921

D3S4194 (e-PCR)
- UniSTS:2436

SHGC-148108 (e-PCR)
- UniSTS:172932

WI-15608 (e-PCR)
- UniSTS:29585

D3S3145 (e-PCR)
- UniSTS:37830

SHGC-76733 (e-PCR)
- UniSTS:67288

RH36646 (e-PCR)
- UniSTS:85732

D3S3138 (e-PCR)
- UniSTS:37878

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled serotonin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables histamine receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled serotonin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to histamine	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in regulation of vascular permeability	IEA Inferred from Electronic Annotation more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: histamine H1 receptor

Names: histamine receptor, subclass H1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000861.3 → NP_000852.1 histamine H1 receptor

See identical proteins and their annotated locations for NP_000852.1

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as H/I/K, differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AC083855, BC060802, BM905371, D28481, DB073635

Consensus CDS

CCDS2604.1

UniProtKB/Swiss-Prot

A8K047, P35367, Q6P9E5

UniProtKB/TrEMBL

A8K7Z2

Related

ENSP00000380247.1, ENST00000397056.1

Conserved Domains (1) summary

cd15050
Location:28 → 479

7tmA_Histamine_H1R; histamine subtype H1 receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001098211.2 → NP_001091681.1 histamine H1 receptor

See identical proteins and their annotated locations for NP_001091681.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as F/K, differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AC083855, BM905371, D28481, DA372691, DB073635

Consensus CDS

CCDS2604.1

UniProtKB/Swiss-Prot

A8K047, P35367, Q6P9E5

UniProtKB/TrEMBL

A8K7Z2

Conserved Domains (1) summary

cd15050
Location:28 → 479

7tmA_Histamine_H1R; histamine subtype H1 receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001098212.2 → NP_001091682.1 histamine H1 receptor

See identical proteins and their annotated locations for NP_001091682.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as B/K, differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.

Source sequence(s)

AC083855, BM905371, BP366267, D28481

Consensus CDS

CCDS2604.1

UniProtKB/Swiss-Prot

A8K047, P35367, Q6P9E5

UniProtKB/TrEMBL

A8K7Z2

Related

ENSP00000397028.2, ENST00000431010.3

Conserved Domains (1) summary

cd15050
Location:28 → 479

7tmA_Histamine_H1R; histamine subtype H1 receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001098213.2 → NP_001091683.1 histamine H1 receptor

See identical proteins and their annotated locations for NP_001091683.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as A/K, represents the longest transcript. Variants 1-4 encode the same protein.

Source sequence(s)

AC083855, BM905371, D28481, DB073635, DC300229

Consensus CDS

CCDS2604.1

UniProtKB/Swiss-Prot

A8K047, P35367, Q6P9E5

UniProtKB/TrEMBL

A8K7Z2

Related

ENSP00000406705.2, ENST00000438284.2

Conserved Domains (1) summary

cd15050
Location:28 → 479

7tmA_Histamine_H1R; histamine subtype H1 receptor, member of the class A family of seven-transmembrane G protein-coupled receptors