GABRB3
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Gamma-aminobutyric acid receptor subunit beta-3 is a protein that in humans is encoded by the GABRB3 gene.
Function
This gene encodes a member of the ligand-gated ion channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described.[4]
Structure
The crystal structure of a human β3 homopentamer was published in 2014.[5][6]
Clinical significance
Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. The GABRB3 gene has been associated with savant skills accompanying such disorders.[7] The GABRB3 gene deficient mouse has been proposed as a model of autism spectrum disorder.[8]
Interactions
GABRB3 has been shown to interact with AKAP5.[9]
See also
References
- ↑ "Drugs that physically interact with Gamma-aminobutyric acid receptor subunit beta-3 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "Entrez Gene: GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3".
- ↑ PMID 24909990
- ↑ http://www.rcsb.org/pdb/explore/explore.do?structureId=4COF pdb
- ↑ Nurmi EL, Dowd M, Tadevosyan-Leyfer O, Haines JL, Folstein SE, Sutcliffe JS (July 2003). "Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13". J Am Acad Child Adolesc Psychiatry. 42 (7): 856–63. doi:10.1097/01.CHI.0000046868.56865.0F. PMID 12819446.
- ↑ DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD (March 2008). "Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder". Behav. Brain Res. 187 (2): 207–20. doi:10.1016/j.bbr.2007.09.009. PMC 2684890
. PMID 17983671. - ↑ Brandon NJ, Jovanovic JN, Colledge M, Kittler JT, Brandon JM, Scott JD, Moss SJ (January 2003). "A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits". Mol. Cell. Neurosci. 22 (1): 87–97. doi:10.1016/S1044-7431(02)00017-9. PMID 12595241.
Further reading
- Saitoh S, Kubota T, Ohta T, et al. (1992). "Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.". Lancet. 339 (8789): 366–7. doi:10.1016/0140-6736(92)91686-3. PMID 1346439.
- Wagstaff J, Chaillet JR, Lalande M (1992). "The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7.". Genomics. 11 (4): 1071–8. doi:10.1016/0888-7543(91)90034-C. PMID 1664410.
- Wagstaff J, Knoll JH, Fleming J, et al. (1991). "Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.". Am. J. Hum. Genet. 49 (2): 330–7. PMC 1683305. PMID 1714232.
- Russek SJ, Farb DH (1995). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform.". Genomics. 23 (3): 528–33. doi:10.1006/geno.1994.1539. PMID 7851879.
- Knoll JH, Cheng SD, Lalande M (1994). "Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.". Nat. Genet. 6 (1): 41–6. doi:10.1038/ng0194-41. PMID 8136833.
- Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties.". J. Biol. Chem. 269 (17): 12993–8. PMID 8175718.
- Kirkness EF, Fraser CM (1993). "A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3).". J. Biol. Chem. 268 (6): 4420–8. PMID 8382702.
- Sinnett D, Wagstaff J, Glatt K, et al. (1993). "High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients.". Am. J. Hum. Genet. 52 (6): 1216–29. PMC 1682269. PMID 8389098.
- Glatt K, Glatt H, Lalande M (1997). "Structure and organization of GABRB3 and GABRA5.". Genomics. 41 (1): 63–9. doi:10.1006/geno.1997.4639. PMID 9126483.
- Meguro M, Mitsuya K, Sui H, et al. (1997). "Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer.". Hum. Mol. Genet. 6 (12): 2127–33. doi:10.1093/hmg/6.12.2127. PMID 9328477.
- Russek SJ (1999). "Evolution of GABA(A) receptor diversity in the human genome.". Gene. 227 (2): 213–22. doi:10.1016/S0378-1119(98)00594-0. PMID 10023064.
- Buckley ST, Eckert AL, Dodd PR (2006). "Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex.". Ann. N. Y. Acad. Sci. 914: 58–64. doi:10.1111/j.1749-6632.2000.tb05183.x. PMID 11085308.
- Scapoli L, Martinelli M, Pezzetti F, et al. (2002). "Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate.". Hum. Genet. 110 (1): 15–20. doi:10.1007/s00439-001-0639-5. PMID 11810291.
- Buxbaum JD, Silverman JM, Smith CJ, et al. (2002). "Association between a GABRB3 polymorphism and autism.". Mol. Psychiatry. 7 (3): 311–6. doi:10.1038/sj.mp.4001011. PMID 11920158.
- Buhr A, Bianchi MT, Baur R, et al. (2002). "Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).". Hum. Genet. 111 (2): 154–60. doi:10.1007/s00439-002-0766-7. PMID 12189488.
- Trudell J (2002). "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling.". Biochim. Biophys. Acta. 1565 (1): 91–6. doi:10.1016/S0005-2736(02)00512-6. PMID 12225856.
- Sarto I, Wabnegger L, Dögl E, Sieghart W (2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly.". Neuropharmacology. 43 (4): 482–91. doi:10.1016/S0028-3908(02)00160-0. PMID 12367595.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Słopień A, Rajewski A, Budny B, Czerski P (2003). "[Evaluation of q11-q13 locus of chromosome 15 aberrations and polymorphisms in the B3 subunit of the GABA-A receptor gene (GABRB3) in autistic patients]". Psychiatr. Pol. 36 (5): 779–91. PMID 12491987.
- Brandon NJ, Jovanovic JN, Colledge M, et al. (2003). "A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits.". Mol. Cell. Neurosci. 22 (1): 87–97. doi:10.1016/S1044-7431(02)00017-9. PMID 12595241.
External links
- GABRB3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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