GABBR1

Receptor 1 gama aminobuterne kiseline B
	; PDB prikaza baziran na 1srz.
Dostupne strukture
	1srz, 1ss2
Identifikatori
Simboli	GABBR1; GABABR1; GABBR1-3; GB1; GPRC3A; dJ271M21.1.1; dJ271M21.1.2
Vanjski ID	OMIM: 603540 MGI: 1860139 HomoloGene: 1132 IUPHAR: GABAB1 GeneCards: GABBR1 Gene
Ontologija gena
Molekularna funkcija	• aktivnost prenosnika signala • receptorska aktivnost • aktivnost G-protein spregnutog GABA receptora • proteinsko vezivanje • vezivanje transkripcionog faktora
Celularna komponenta	• ekstracelularni region • rastvorna frakcija • citoplazma • membrana endoplazmatičnog retikuluma • mikrozom • ćelijska membrana • integralno sa ćelijskom membranom • sinaptička vezikula • sinaptozom • ćelijski spoj • aksolema • mitohondrijska membrana • neuronsko ćelijsko telo • dendritska osnova • sinapsa • postsinaptička membrana
Biološki proces	• osteoblastna diferencijacija • negativna regulacija aktivnosti adenilat ciklaze • signalni put gama-aminobuterne kiseline • sinaptička transmisija • negativna regulacija ćelijske proliferacije • regulacija glutamatne sekrecije • negativna regulacija sekrecije gama-aminobutirne kiseline • regulacija cAMP biosintetičkog procesa • negativna regulacija sekrecije epinefrina • negativna regulacija sekrecije dopamina • respons na nikotin • respons na etanol • negativna regulacija sinaptičke transmisije • pozitivna regulacija sekrecije hormona rasta
Pregled RNK izražavanja
	podaci
Ortolozi

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Receptor 1 gama-aminobuterne kiseline B (GABA_B1) 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

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

Reference

↑ „Entrez Gene: GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1”.
↑ 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. DOI:10.1073/pnas.240452197. ISSN 0027-8424. PMC 17684. PMID 11087824.
↑ 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. DOI:10.1038/25354. ISSN 0028-0836. PMID 9872307.

Literatura

Fraser DD, Mudrick-Donnon LA, MacVicar BA (1994). „Astrocytic GABA receptors.”. Glia 11 (2): 83–93. DOI:10.1002/glia.440110203. PMID 7927650.
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, et al. (1997). „Expression cloning of GABA(B) receptors uncovers similarity to metabotropic glutamate receptors”. Nature 386 (6622): 239–46. DOI:10.1038/386239a0. PMID 9069281.
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. DOI:10.1016/S0378-1119(97)00411-3. PMID 9373149.
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. DOI:10.1006/bbrc.1998.9296. PMID 9753614.
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. DOI:10.1016/S0006-3223(98)00244-3. PMID 9798068.
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. DOI:10.1073/pnas.95.25.14991. PMC 24563. PMID 9844003.
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. DOI:10.1038/25354. PMID 9872316.
Kuner R, Köhr G, Grünewald S, et al. (1999). „Role of heteromer formation in GABAB receptor function”. Science 283 (5398): 74–7. 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, 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. DOI:10.1007/s100480050051. PMID 9933300.
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. DOI:10.1074/jbc.274.12.7607. PMID 10075644.
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. 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, et al. (1999). „Calcium sensing properties of the GABA(B) receptor”. Neuropharmacology 38 (11): 1647–56. DOI:10.1016/S0028-3908(99)00119-7. PMID 10587080.
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. DOI:10.1074/jbc.M005333200. PMID 10906333.
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. DOI:10.1073/pnas.240452197. PMC 17684. PMID 11087824.
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. DOI:10.1006/mcne.2000.0938. PMID 11178869.
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.

Povezano

GABAB receptor

Vanjske veze

„GABA_B Receptors: GABA_B1”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Arhivirano iz originala na datum 2016-03-03.

[entrez-1] „Entrez Gene: GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1”.

[pmid11087824-2] 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. DOI:10.1073/pnas.240452197. ISSN 0027-8424. PMC 17684. PMID 11087824.

[pmid9872316-3] 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. DOI:10.1038/25354. ISSN 0028-0836. PMID 9872307.

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