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GABBR1 - gamma-aminobutyric acid (GABA) B receptor, 1
Entrez Gene Name: gamma-aminobutyric acid (GABA) B receptor, 1
Synonyms: bM573K1.1, dJ271M21.1.1, dJ271M21.1.2, FLJ92613, GABA B1, GABA B1 A, GABAB(1e), GABAB-R1, GABBR1, GABBR1-3, GB1, GBR1, GPRC3A, hGB1a

Gene Summary

  • Human (2550): Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates 4 transcript variants. [provided by RefSeq]
  • Rat (81657): metabotropic G-protein-coupled receptor for gamma-aminobutyric acid (GABA) [RGD]

Cell Regulation

Regulates:
  • GABBR1
  • GABBR2
  • Camk2
View all 27 in IPA
Regulated by:
  • baclofen
  • GABA
  • GABBR2
View all 18 in IPA
Binds:
  • GABBR2
  • ATF4
  • GABA
View all 33 in IPA
Role in cell:
  • apoptosis
  • proliferation
  • differentiation
View all 7 in IPA
Disease:
  • hypothermia
  • epileptic seizure
  • hyperalgesia
View all 22 in IPA

Biological Process

G-protein coupled receptor protein signaling pathway, gamma-aminobutyric acid signaling pathway, negative regulation of adenylate cyclase activity, osteoblast differentiation, signal transduction

Cellular Components

cell junction, cytoplasm, extracellular region, integral to membrane, integral to plasma membrane, membrane, plasma membrane, postsynaptic membrane, synapse

Literature References

  • 11498050Schuler V, Lüscher C, Blanchet C, Klix N, Sansig G, Klebs K, Schmutz M, Heid J, Gentry C, Urban L, Fox A, Spooren W, Jaton AL, Vigouret J, Pozza M, Kelly PH, Mosbacher J, Froestl W, Käslin E, Korn R, Bischoff S, Kaupmann K, van der Putten H, Bettler B. Epilepsy, hyperalgesia, impaired memory, and loss of pre- and postsynaptic GABA(B) responses in mice lacking GABA(B(1)).Neuron 2001 Jul 19;31(1):47-58
  • 17554300Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78
  • 9872316White JH, Wise A, Main MJ, Green A, Fraser NJ, Disney GH, Barnes AA, Emson P, Foord SM, Marshall FH. Heterodimerization is required for the formation of a functional GABA(B) receptor.Nature 1998 Dec 17;396(6712):679-82
  • View 459 categorized literature findings and their references in IPA

Molecular Functions

G-protein coupled receptor activity, GABA-B receptor activity, protein binding, receptor activity, signal transducer activity

Protein Domains

carboxy terminal domain, coiled-coil domain, extracellular ligand binding domain, G-protein coupled receptor, GABA-B receptor, protein binding, short consensus repeat domain

Subcellular Locations

cell body, cell surface, cellular membrane, cis Golgi cisternae, cytoplasm, dendrites, dendritic spines, endoplasmic reticulum, endoplasmic reticulum-rich vesicle fraction, Golgi-enriched fraction, granules, intracellular membranes, intracellular space, membrane fraction, membrane processes, neurites, nuclear fraction, perinuclear region, perinuclear vesicles, plasma membrane, postsynaptic density (PSD) fractions, synaptosomes