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ADRB1 adrenoceptor beta 1 [ Homo sapiens (human) ]

Gene ID: 153, updated on 28-Jun-2020

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
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

Genomic context

See ADRB1 in Genome Data Viewer
Location:
10q25.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (114043866..114046904)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115803806..115806667)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378492 Neighboring gene uncharacterized LOC105378493 Neighboring gene RNA, U6 small nuclear 709, pseudogene Neighboring gene UBE2V1 pseudogene 5

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
Ras guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
alpha-2A adrenergic receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-adrenergic receptor activity TAS
Traceable Author Statement
more info
PubMed 
beta1-adrenergic receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epinephrine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
norepinephrine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
adenylate cyclase-activating adrenergic receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating adrenergic receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brown fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
diet induced thermogenesis IEA
Inferred from Electronic Annotation
more info
 
fear response IEA
Inferred from Electronic Annotation
more info
 
heat generation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of heart rate by epinephrine-norepinephrine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of the force of heart contraction by epinephrine-norepinephrine IEA
Inferred from Electronic Annotation
more info
 
regulation of circadian sleep/wake cycle, sleep IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
response to cold IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
beta-1 adrenergic receptor
Names
adrenergic, beta-1-, receptor
beta-1 adrenoceptor
beta-1 adrenoreceptor

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012187.1 RefSeqGene

    Range
    4820..7858
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000684.3NP_000675.1  beta-1 adrenergic receptor

    See identical proteins and their annotated locations for NP_000675.1

    Status: REVIEWED

    Source sequence(s)
    AL355543
    Consensus CDS
    CCDS7586.1
    UniProtKB/Swiss-Prot
    P08588
    Related
    ENSP00000358301.2, ENST00000369295.4
    Conserved Domains (2) summary
    pfam00001
    Location:75377
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:67266
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    114043866..114046904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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