GeneID: 89



Names

Common Name: ADRB1 Type: Gene
Chromosome: 10 (NC_000010.11) Locus: NG_012187.1 (ADRB1)
HUGO Symbol: ADRB1 Full Name: adrenoceptor beta 1
Exons: 1 Introns: N/A

Description:
This gene encodes the beta1-adrenergic receptor (ADRB1), member of the family of G protein-coupled adrenoreceptors and part of the sympathetic nervous system that participates in a fight-or-flight response upon danger. The encoded protein is expressed predominantly in cardiac tissue, where it mediates an increase in inotropy and chronotropy upon stimulation, and binds to catecholamines, such as norepinephrine (noradrenaline) and epinephrine (adrenaline). Ligand-stimulated ADRB1 receptors signal via G-proteins coupled to adenylate cyclase in order to generate the second messenger cyclic AMP (cAMP) and activate downstream cAMP-dependent protein kinases. This gene is intronless encoding a 477-amino-acid protein. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. Polymorphisms in this gene associated with pulmonary hypertension in sickle cell patients.

Synonyms: RHR , B1AR , ADRB1R , BETA1AR

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Pak Y, Pham N, Rotin D, Direct binding of the beta1 adrenergic receptor to the cyclic AMP-dependent guanine nucleotide exchange factor CNrasGEF leads to Ras activation., Mol. Cell. Biol. , 22(22), 7942-52, 2002 PubMed
  2. Taylor MR, Pharmacogenetics of the human beta-adrenergic receptors., Pharmacogenomics J. , 7(1), 29-37, 2007 PubMed
  3. Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ, Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease., Blood , 111(12), 5721-6, 2008 PubMed
Created on 2016-04-26 17:57:46, Last reviewed on (Show full history)


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