GABBR1

Protein-coding gene in the species Homo sapiens
GABBR1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4MQE, 4MQF, 4MR7, 4MR9, 4MRM, 4MS1, 4MS3, 4MS4, 4PAS

Identifiers
AliasesGABBR1, GABABR1, GABBR1-3, GB1, GPRC3A, dJ271M21.1.1, dJ271M21.1.2, gamma-aminobutyric acid type B receptor subunit 1
External IDsOMIM: 603540 MGI: 1860139 HomoloGene: 1132 GeneCards: GABBR1
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for GABBR1
Genomic location for GABBR1
Band6p22.1Start29,555,629 bp[1]
End29,633,976 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for GABBR1
Genomic location for GABBR1
Band17 B1|17 19.16 cMStart37,356,858 bp[2]
End37,385,959 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • cingulate gyrus

  • Brodmann area 9

  • canal of the cervix

  • left uterine tube

  • gastric mucosa

  • ascending aorta

  • right coronary artery

  • anterior pituitary

  • tibial nerve

  • popliteal artery
Top expressed in
  • habenula

  • superior frontal gyrus

  • entorhinal cortex

  • cerebellar cortex

  • medial dorsal nucleus

  • medial geniculate nucleus

  • olfactory tubercle

  • nucleus accumbens

  • cingulate gyrus

  • dorsomedial hypothalamic nucleus
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • G protein-coupled receptor activity
  • signal transducer activity
  • protein binding
  • G protein-coupled GABA receptor activity
  • G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential
Cellular component
  • cytoplasm
  • integral component of membrane
  • G protein-coupled receptor dimeric complex
  • postsynaptic membrane
  • cell projection
  • membrane
  • plasma membrane
  • synapse
  • integral component of plasma membrane
  • extracellular region
  • cell junction
  • dendrite
  • G protein-coupled receptor heterodimeric complex
  • presynaptic membrane
  • presynapse
  • Schaffer collateral - CA1 synapse
  • GABA-ergic synapse
Biological process
  • gamma-aminobutyric acid signaling pathway
  • adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
  • signal transduction
  • negative regulation of adenylate cyclase activity
  • G protein-coupled receptor signaling pathway
  • regulation of postsynaptic membrane potential
  • neuron-glial cell signaling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2550

54393

Ensembl
ENSG00000237112
ENSG00000206511
ENSG00000206466
ENSG00000232632
ENSG00000232569

ENSG00000237051
ENSG00000204681

ENSMUSG00000024462

UniProt

Q9UBS5

Q9WV18

RefSeq (mRNA)

NM_001470
NM_021903
NM_021904
NM_021905
NM_001319053

NM_019439

RefSeq (protein)

NP_001305982
NP_001461
NP_068703
NP_068704

NP_062312

Location (UCSC)Chr 6: 29.56 – 29.63 MbChr 17: 37.36 – 37.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gamma-aminobutyric acid B receptor, 1 (GABAB1), is a G-protein coupled receptor subunit encoded by the GABBR1 gene.

Function

GABAB1 is a receptor for Gamma-aminobutyric acid. Upon binding, GABAB1 will produce a slow and prolonged inhibitory effect. GABAB1 is one part of a heterodimer, which is the GABAB receptor, consisting of it and the related GABAB2 protein. 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.[5]

Interactions

GABBR1 has been shown to interact with ATF4[6] and GABBR2.[7]

See also

References

  1. ^ a b c ENSG00000206511, ENSG00000206466, ENSG00000232632, ENSG00000232569, ENSG00000237051, ENSG00000204681 GRCh38: Ensembl release 89: ENSG00000237112, ENSG00000206511, ENSG00000206466, ENSG00000232632, ENSG00000232569, ENSG00000237051, ENSG00000204681 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024462 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1".
  6. ^ White JH, McIllhinney RA, Wise A, Ciruela F, Chan WY, Emson PC, Billinton A, Marshall FH (December 2000). "The GABAB receptor interacts directly with the related transcription factors CREB2 and ATFx". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13967–72. Bibcode:2000PNAS...9713967W. doi:10.1073/pnas.240452197. PMC 17684. PMID 11087824.
  7. ^ White JH, Wise A, Main MJ, Green A, Fraser NJ, Disney GH, Barnes AA, Emson P, Foord SM, Marshall FH (December 1998). "Heterodimerization is required for the formation of a functional GABA(B) receptor". Nature. 396 (6712): 679–82. Bibcode:1998Natur.396..679W. doi:10.1038/25354. PMID 9872316. S2CID 4406311.

Further reading

  • Fraser DD, Mudrick-Donnon LA, MacVicar BA (1994). "Astrocytic GABA receptors". Glia. 11 (2): 83–93. doi:10.1002/glia.440110203. PMID 7927650. S2CID 8640162.
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Kaupmann K, Huggel K, Heid J, Flor PJ, Bischoff S, Mickel SJ, McMaster G, Angst C, Bittiger H, Froestl W, Bettler B (1997). "Expression cloning of GABA(B) receptors uncovers similarity to metabotropic glutamate receptors". Nature. 386 (6622): 239–46. Bibcode:1997Natur.386..239K. doi:10.1038/386239a0. PMID 9069281. S2CID 4345443.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Grifa A, Totaro A, Rommens JM, Carella M, Roetto A, Borgato L, Zelante L, Gasparini P (1998). "GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene". Biochem. Biophys. Res. Commun. 250 (2): 240–5. doi:10.1006/bbrc.1998.9296. PMID 9753614.
  • Goei VL, Choi J, Ahn J, Bowlus CL, Raha-Chowdhury R, Gruen JR (1999). "Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization". Biol. Psychiatry. 44 (8): 659–66. doi:10.1016/S0006-3223(98)00244-3. PMID 9798068. S2CID 22947340.
  • Kaupmann K, Schuler V, Mosbacher J, Bischoff S, Bittiger H, Heid J, Froestl W, Leonhard S, Pfaff T, Karschin A, Bettler B (1999). "Human gamma-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K+ channels". Proc. Natl. Acad. Sci. U.S.A. 95 (25): 14991–6. doi:10.1073/pnas.95.25.14991. PMC 24563. PMID 9844003.
  • White JH, Wise A, Main MJ, Green A, Fraser NJ, Disney GH, Barnes AA, Emson P, Foord SM, Marshall FH (1999). "Heterodimerization is required for the formation of a functional GABA(B) receptor". Nature. 396 (6712): 679–82. Bibcode:1998Natur.396..679W. doi:10.1038/25354. PMID 9872316. S2CID 4406311.
  • Kuner R, Köhr G, Grünewald S, Eisenhardt G, Bach A, Kornau HC (1999). "Role of heteromer formation in GABAB receptor function". Science. 283 (5398): 74–7. Bibcode:1999Sci...283...74K. doi:10.1126/science.283.5398.74. PMID 9872744.
  • Makoff A (1999). "Molecular cloning of human GABABR1 and its tissue distribution". Brain Res. Mol. Brain Res. 64 (1): 137–40. doi:10.1016/S0169-328X(98)00316-7. PMID 9889352.
  • Peters HC, Kämmer G, Volz A, Kaupmann K, Ziegler A, Bettler B, Epplen JT, Sander T, Riess O (2000). "Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy". Neurogenetics. 2 (1): 47–54. doi:10.1007/s100480050051. PMID 9933300. S2CID 9649940.
  • Ng GY, Clark J, Coulombe N, Ethier N, Hebert TE, Sullivan R, Kargman S, Chateauneuf A, Tsukamoto N, McDonald T, Whiting P, Mezey E, Johnson MP, Liu Q, Kolakowski LF, Evans JF, Bonner TI, O'Neill GP (1999). "Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity". J. Biol. Chem. 274 (12): 7607–10. doi:10.1074/jbc.274.12.7607. PMID 10075644.
  • Sander T, Peters C, Kämmer G, Samochowiec J, Zirra M, Mischke D, Ziegler A, Kaupmann K, Bettler B, Epplen JT, Riess O (1999). "Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy". Am. J. Med. Genet. 88 (4): 305–10. doi:10.1002/(SICI)1096-8628(19990820)88:4<305::AID-AJMG5>3.0.CO;2-X. PMID 10402495.
  • Wise A, Green A, Main MJ, Wilson R, Fraser N, Marshall FH (1999). "Calcium sensing properties of the GABA(B) receptor". Neuropharmacology. 38 (11): 1647–56. doi:10.1016/S0028-3908(99)00119-7. PMID 10587080. S2CID 19916703.
  • Sullivan R, Chateauneuf A, Coulombe N, Kolakowski LF, Johnson MP, Hebert TE, Ethier N, Belley M, Metters K, Abramovitz M, O'Neill GP, Ng GY (2000). "Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor". J. Pharmacol. Exp. Ther. 293 (2): 460–7. PMID 10773016.
  • Schwarz DA, Barry G, Eliasof SD, Petroski RE, Conlon PJ, Maki RA (2000). "Characterization of gamma-aminobutyric acid receptor GABAB(1e), a GABAB(1) splice variant encoding a truncated receptor". J. Biol. Chem. 275 (41): 32174–81. doi:10.1074/jbc.M005333200. PMID 10906333.
  • White JH, McIllhinney RA, Wise A, Ciruela F, Chan WY, Emson PC, Billinton A, Marshall FH (2001). "The GABAB receptor interacts directly with the related transcription factors CREB2 and ATFx". Proc. Natl. Acad. Sci. U.S.A. 97 (25): 13967–72. Bibcode:2000PNAS...9713967W. doi:10.1073/pnas.240452197. PMC 17684. PMID 11087824.
  • Couve A, Kittler JT, Uren JM, Calver AR, Pangalos MN, Walsh FS, Moss SJ (2001). "Association of GABA(B) receptors and members of the 14-3-3 family of signaling proteins". Mol. Cell. Neurosci. 17 (2): 317–28. doi:10.1006/mcne.2000.0938. PMID 11178869. S2CID 24344705.
  • Muñoz A, Arellano JI, DeFelipe J (2002). "GABABR1 receptor protein expression in human mesial temporal cortex: changes in temporal lobe epilepsy". J. Comp. Neurol. 449 (2): 166–79. doi:10.1002/cne.10287. PMID 12115687. S2CID 21596884.

External links

  • "GABAB Receptors: GABAB1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Archived from the original on 2016-03-03. Retrieved 2008-12-04.
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  • 1srz: Solution structure of the second complement control protein (CCP) module of the GABA(B)R1a receptor, Pro-119 trans conformer
    1srz: Solution structure of the second complement control protein (CCP) module of the GABA(B)R1a receptor, Pro-119 trans conformer
  • 1ss2: Solution structure of the second complement control protein (CCP) module of the GABA(B)R1a receptor, Pro-119 cis conformer
    1ss2: Solution structure of the second complement control protein (CCP) module of the GABA(B)R1a receptor, Pro-119 cis conformer
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