U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    ADRB1 adrenoceptor beta 1 [ Homo sapiens (human) ]

    Gene ID: 153, updated on 10-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADRB1 in Genome Data Viewer
    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_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4078 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:115785885-115787084 Neighboring gene uncharacterized LOC105378493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2841 Neighboring gene uncharacterized LOC124902554 Neighboring gene RNA, U6 small nuclear 709, pseudogene

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    EBI GWAS 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.
    EBI GWAS Catalog
    New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B0LPE2, P08588, Q5T5Y4, Q9UKG7, Q9UKG8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      114935524..114938557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)