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FLASH GENE

Symbol

ADRB1

contributors: mct - updated : 15-09-2016

HGNC name	adrenergic, beta-1-, receptor
HGNC id	285

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000684 1 - 2862 NP_000675 51.1 477 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Nervous brain forebrain cerebral cortex   moderately Urinary kidney tubule collecting duct     Homo sapiens   kidney tubule convoluted tubule     Homo sapiens Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens Muscular myocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven transmembrane segments (7TM) receptor
	the extreme C-terminus of ADRB1 binds DLG1 and AKAP5 to organize a scaffold involved in trafficking of the ADRB1

HOMOLOGY

Homologene

FAMILY

G protein coupled receptor superfamily

CATEGORY

signaling , receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
text	localized with TRPV5 in DCT2/CNT

basic FUNCTION	activating adenylate cyclase and in other organs mediating the action of catecholamines and sympathetic nervous system
	in cardiomyocytes, ADRB1 plays an important role in regulating cardiac functions
	activation of ADRB1 stimulates active Ca(2+) reabsorption in late distal convoluted and connecting tubules (DCT2/CNT)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ADRBK1
	trans-Golgi network (TGN) acts as a checkpoint for both the recycling and down-regulation of ADRB1 and that arrestin-3 not only mediates ADRB1 endocytosis but also its recycling through the TGN
	recycles via a membranous organelle, recycling endosome, by binding with SNX27
	significant role for the AKAP5 scaffold in signaling and trafficking of the ADRB1 in cardiac myocytes and mammalian cells
	ADRB1 associates with PDE4D8 through the receptor C-terminal PDZ motif-dependent binding to synaptic-associated protein 97 (DLG1)
	role for ADRB1 in the downregulation of PTGS2
	GOPC colocalizes with SNX1 and the internalized ADRB1 and protects endocytosed receptors from lysosomal degradation

cell & other

REGULATION

Other

is S-palmitoylated at a second, more distal site within the C-terminal tail

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   of 2 transcripts in heart failure constitutional     --over   in infantile hemangioma (IH) independent of the proliferative or regressive phase

Susceptibility

to takotsubo cardiomyopathy (TTC)

Variant & Polymorphism	no apparent association of the C1165G variant with idiopathic cardiomyopathy
	Arg389 predisposing to heart failure, in hypertrophic cardiomyopathy, allele Gly-Gly having protective effect
	Arg389Gly influencing the pathophysiology of OAG in Japanese patients
	association between TTC phenotype and beta1 adrenoreceptor gene polymorphisms

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS