GeneID: 424



Names

Common Name: ARRB1 Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NG_028118.1 (ARRB1)
HUGO Symbol: ARRB1 Full Name: arrestin beta 1
Exons: 16 Introns: 15

Description:
Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. In addition, ARRB1 is implicated in the regulation of MAP kinase signaling pathways such as MAPK1/3 (ERK1/2) and p38 MAPK, which play a key role in the regulation of erythropoiesis. Ineffective erythropoiesis due to intramedullary apoptosis and delayed maturation of erythroid progenitor cells is the hallmark of beta-thalassaemia. Studies have shown significant changes in the expression of the ARRB1 gene in patients with beta-thalassaemia, thus implicating the ARRB1 gene in the pathogenesis of beta-thalassaemia, likely through the MAP kinase pathway.

Synonyms: ARB1 , ARR1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Elghobashy YA, Assar MF, Mahmoud AA, Monem A Eltorgoman A, Elmasry S, The relation between mitogen activated protein kinase (MAPK) pathway and different genes expression in patients with beta Thalassemia., Biochem Biophys Rep, 24(0), 100836, 2020 PubMed
Created on 2021-01-25 21:19:19, Last reviewed on (Show full history)


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