GABBR1

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Receptor 1 gama aminobuterne kiseline B

PDB prikaza baziran na 1srz.
Dostupne strukture
1srz, 1ss2
Identifikatori
SimboliGABBR1; GABABR1; GABBR1-3; GB1; GPRC3A; dJ271M21.1.1; dJ271M21.1.2
Vanjski IDOMIM603540 MGI1860139 HomoloGene1132 IUPHAR: GABAB1 GeneCards: GABBR1 Gene
Pregled RNK izražavanja
PBB GE GABBR1 205890 s at tn.png
PBB GE GABBR1 203146 s at tn.png
podaci
Ortolozi
VrstaČovekMiš
Entrez255054393
EnsemblENSG00000204681ENSMUSG00000024462
UniProtQ9UBS5Q9WV18
RefSeq (mRNA)NM_001470.2NM_019439.3
RefSeq (protein)NP_001461.1NP_062312.3
Lokacija (UCSC)Chr 6:
29.52 - 29.6 Mb
Chr 17:
37.18 - 37.21 Mb
PubMed pretraga[1][2]

Receptor 1 gama-aminobuterne kiseline B (GABAB1) je podjedinica G protein spregnutog receptora koja je kodirana GABBR1 genom.

Gama-aminobuterna kiselina (GABA) je inhibitorni neurotransmiter u centralnom nervnom sistemu sisara. GABA deluje na jonotropne GABA(A/C) receptore čime se proizvodi brza sinaptička inhibicija, kao i na metabotropne GABA(B) receptore, čime nastaju dugotrajniji inhibitorni signali. GABA(B) receptor se sastoji od heterodimera sa dva srodna 7-transmembranska receptora, GABA(B) receptor 1 i GABA(B) receptor 2. Gen GABA(B) receptora 1 se nalazi na hromozomu 6p21.3 u regionu HLA klase I, blizo HLA-F gena. Lokusi predispozicije za maltiplu sklerozu, epilepsiju, i šizofreniju su mapirani u ovaj region. Alternativno splajsovanje ovog gena generiše 4 transkriptne varijante.[1]

Interakcije[uredi - уреди | uredi izvor]

Pokazano je da GABBR1 formira interakcije sa ATF4[2] i GABBR2.[3]

Reference[uredi - уреди | uredi izvor]

  1. "Entrez Gene: GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2550. 
  2. White, J H; McIllhinney R A, Wise A, Ciruela F, Chan W Y, Emson P C, Billinton A, Marshall F H (December 2000). "The GABAB receptor interacts directly with the related transcription factors CREB2 and ATFx". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 97 (25): 13967–72. ISSN 0027-8424. PMC 17684. PMID 11087824. doi:10.1073/pnas.240452197. 
  3. White, J H; Wise A, Main M J, Green A, Fraser N J, Disney G H, Barnes A A, Emson P, Foord S M, Marshall F H (December 1998). "Heterodimerization is required for the formation of a functional GABA(B) receptor". Nature (ENGLAND) 396 (6712): 679–82. ISSN 0028-0836. PMID 9872307. doi:10.1038/25354. 

Literatura[uredi - уреди | uredi izvor]

  • Fraser DD, Mudrick-Donnon LA, MacVicar BA (1994). "Astrocytic GABA receptors.". Glia 11 (2): 83–93. PMID 7927650. doi:10.1002/glia.440110203. 
  • 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. PMID 8125298. doi:10.1016/0378-1119(94)90802-8. 
  • Kaupmann K, Huggel K, Heid J et al. (1997). "Expression cloning of GABA(B) receptors uncovers similarity to metabotropic glutamate receptors". Nature 386 (6622): 239–46. PMID 9069281. doi:10.1038/386239a0. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3. 
  • Grifa A, Totaro A, Rommens JM et al. (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. PMID 9753614. doi:10.1006/bbrc.1998.9296. 
  • Goei VL, Choi J, Ahn J et al. (1999). "Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization". Biol. Psychiatry 44 (8): 659–66. PMID 9798068. doi:10.1016/S0006-3223(98)00244-3. 
  • Kaupmann K, Schuler V, Mosbacher J et al. (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. PMC 24563. PMID 9844003. doi:10.1073/pnas.95.25.14991. 
  • White JH, Wise A, Main MJ et al. (1999). "Heterodimerization is required for the formation of a functional GABA(B) receptor". Nature 396 (6712): 679–82. PMID 9872316. doi:10.1038/25354. 
  • Kuner R, Köhr G, Grünewald S et al. (1999). "Role of heteromer formation in GABAB receptor function". Science 283 (5398): 74–7. PMID 9872744. doi:10.1126/science.283.5398.74. 
  • Makoff A (1999). "Molecular cloning of human GABABR1 and its tissue distribution". Brain Res. Mol. Brain Res. 64 (1): 137–40. PMID 9889352. doi:10.1016/S0169-328X(98)00316-7. 
  • Peters HC, Kämmer G, Volz A et al. (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. PMID 9933300. doi:10.1007/s100480050051. 
  • Ng GY, Clark J, Coulombe N et al. (1999). "Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity". J. Biol. Chem. 274 (12): 7607–10. PMID 10075644. doi:10.1074/jbc.274.12.7607. 
  • Sander T, Peters C, Kämmer G et al. (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. PMID 10402495. doi:10.1002/(SICI)1096-8628(19990820)88:4<305::AID-AJMG5>3.0.CO;2-X. 
  • Wise A, Green A, Main MJ et al. (1999). "Calcium sensing properties of the GABA(B) receptor". Neuropharmacology 38 (11): 1647–56. PMID 10587080. doi:10.1016/S0028-3908(99)00119-7. 
  • Sullivan R, Chateauneuf A, Coulombe N et al. (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 et al. (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. PMID 10906333. doi:10.1074/jbc.M005333200. 
  • White JH, McIllhinney RA, Wise A et al. (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. PMC 17684. PMID 11087824. doi:10.1073/pnas.240452197. 
  • Couve A, Kittler JT, Uren JM et al. (2001). "Association of GABA(B) receptors and members of the 14-3-3 family of signaling proteins". Mol. Cell. Neurosci. 17 (2): 317–28. PMID 11178869. doi:10.1006/mcne.2000.0938. 
  • 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. PMID 12115687. doi:10.1002/cne.10287. 

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