ADRB1 adrenoceptor beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADRB1provided by HGNC
Official Full Name: adrenoceptor beta 1provided by HGNC
Primary source: HGNC:HGNC:285
See related: Ensembl:ENSG00000043591 MIM:109630; AllianceGenome:HGNC:285
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: RHR; B1AR; FNSS2; ADRB1R; BETA1AR
Summary: The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (114043866..114046904)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (114935524..114938557)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (115803625..115806663)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

rs1801253 Gly/Gly carriage in the ADRB1 gene leads to unbalanced cardiac sympathetic modulation as assessed by spectral analysis of heart rate variability.
Title: rs1801253 Gly/Gly carriage in the ADRB1 gene leads to unbalanced cardiac sympathetic modulation as assessed by spectral analysis of heart rate variability.
G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the beta1-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells.
Title: G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the β(1)-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells.
Associations between Selected ADRB1 and CYP2D6 Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias.
Title: Associations between Selected ADRB1 and CYP2D6 Gene Polymorphisms in Children with Ventricular and Supraventricular Arrhythmias.
An extensive beta1-adrenergic receptor gene signaling network regulates molecular remodeling in dilated cardiomyopathies.
Title: An extensive β1-adrenergic receptor gene signaling network regulates molecular remodeling in dilated cardiomyopathies.
Expression of the beta1-adrenergic receptor (ADRB1) gene in the myocardium and beta-adrenergic reactivity of the body in patients with a history of myocardium infraction.
Title: Expression of the β1-adrenergic receptor (ADRB1) gene in the myocardium and β-adrenergic reactivity of the body in patients with a history of myocardium infraction.
Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy.
Title: Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy.
Beta-adrenergic receptors gene polymorphisms are associated with cardiac contractility and blood pressure variability.
Title: Beta-adrenergic receptors gene polymorphisms are associated with cardiac contractility and blood pressure variability.
Genetic polymorphisms in ADRB2 and ADRB1 are associated with differential survival in heart failure patients taking beta-blockers.
Title: Genetic polymorphisms in ADRB2 and ADRB1 are associated with differential survival in heart failure patients taking β-blockers.
Investigating changes in beta-adrenergic gene expression (ADRB1 and ADRB2) in Takotsubo (stress) cardiomyopathy syndrome; a pilot study.
Title: Investigating changes in β-adrenergic gene expression (ADRB1 and ADRB2) in Takotsubo (stress) cardiomyopathy syndrome; a pilot study.
Role of alpha- and beta-adrenergic signaling in phenotypic targeting: significance in benign and malignant urologic disease.
Title: Role of α- and β-adrenergic signaling in phenotypic targeting: significance in benign and malignant urologic disease.

Submit: New GeneRIF Correction See all GeneRIFs (257)

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

Associated conditions

Description	Tests
Resting heart rate MedGen: C1821417 OMIM: 607276 GeneReviews: Not available	not available
SHORT SLEEP, FAMILIAL NATURAL, 2 MedGen: C5231420 OMIM: 618591 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. 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

STS-U29690 (e-PCR)
- UniSTS:13348

ADRB1 (e-PCR)
- UniSTS:480051

GDB:193846 (e-PCR)
- UniSTS:155762

NoName (e-PCR)
- UniSTS:489671

Adrb1 (e-PCR), detects polymorphism
- UniSTS:256461

RH68963 (e-PCR)
- UniSTS:13016

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables alpha-2A adrenergic receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-adrenergic receptor activity	TAS Traceable Author Statement more info	PubMed
enables beta1-adrenergic receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta1-adrenergic receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in diet induced thermogenesis	IEA Inferred from Electronic Annotation more info
involved_in fear response	IEA Inferred from Electronic Annotation more info
involved_in heat generation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of heart rate by epinephrine-norepinephrine	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of the force of heart contraction by epinephrine-norepinephrine	IEA Inferred from Electronic Annotation more info
involved_in regulation of circadian sleep/wake cycle, sleep	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in response to cold	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal dense core vesicle	IEA Inferred from Electronic Annotation 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	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-1 adrenergic receptor

Names: adrenergic, beta-1-, receptor; beta-1 adrenoceptor; beta-1 adrenoreceptor

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.