GABRD

Gamma-aminobutyric acid receptor subunit delta is a protein that in humans is encoded by the GABRD gene.[5][6][7]

GABRD
Identifiers
AliasesGABRD, EIG10, EJM7, GEFSP5, gamma-aminobutyric acid type A receptor delta subunit, gamma-aminobutyric acid type A receptor subunit delta
External IDsOMIM: 137163 MGI: 95622 HomoloGene: 55489 GeneCards: GABRD
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p36.33Start2,019,329 bp[1]
End2,030,758 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2563

14403

Ensembl

ENSG00000187730

ENSMUSG00000029054

UniProt

O14764

P22933

RefSeq (mRNA)

NM_000815

NM_008072

RefSeq (protein)

NP_000806

NP_032098

Location (UCSC)Chr 1: 2.02 – 2.03 MbChr 4: 155.38 – 155.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

γ-Aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABAA receptors, which are ligand-gated chloride channels. The GABAA receptor is generally pentameric. Its five subunits are alpha, beta, gamma, delta, and rho. The GABRD gene encodes the delta subunit.[7] Specifically, the δ-subunit is usually expressed in GABAA receptors associated with extrasynaptic activity. The most common GABAA receptors have the gamma subunit, which allows the receptor to bind benzodiazepines. For this reason, receptors containing δ-subunits are sometimes referred to as “benzodiazepine-insensitive” GABAA receptors. However, they do show an exquisitely high sensitivity to ethanol compared to the benzodiazepine-sensitive receptors, which do not respond to ethanol. The δ-subunit containing receptors are also known to be involved in the ventral tegmental area (VTA) pathway in the brain's hippocampus, which means that they may have implications in learning, memory, and reward.[8]

Cell type-specific expression

In a technical comparison between quantitative reverse transcriptase PCR and digital PCR, the expression of the rat gabrd gene was examined across three cell types in the somatosensory cortex: neurogliaform cells, fast spiking basket cells and pyramidal cells.[9] Gene expression was detected in all three cell types, but showed marked enrichment in neurogliaform cells versus the other cell types examined.[9] The GABAA receptor delta subunit is profoundly downregulated with chronic intermittent exposure to ethanol, and appears to contribute strongly to pathological alcohol dependence.[10]

See also

References
  1. GRCh38: Ensembl release 89: ENSG00000187730 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000029054 - 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. Sommer B, Poustka A, Spurr NK, Seeburg PH (Oct 1990). "The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1". DNA and Cell Biology. 9 (8): 561–568. doi:10.1089/dna.1990.9.561. PMID 2176788.
  6. Emberger W, Windpassinger C, Petek E, Kroisel PM, Wagner K (Sep 2000). "Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping". Cytogenetics and Cell Genetics. 89 (3–4): 281–282. doi:10.1159/000015636. PMID 10965146.
  7. "Entrez Gene: GABRD gamma-aminobutyric acid (GABA) A receptor, delta".
  8. Vashchinkina E, Panhelainen A, Aitta-Aho T, Korpi ER (2014-11-25). "GABAA receptor drugs and neuronal plasticity in reward and aversion: focus on the ventral tegmental area". Frontiers in Pharmacology. 5: 256. doi:10.3389/fphar.2014.00256. PMC 4243505. PMID 25505414.
  9. Faragó N, Kocsis ÁK, Lovas S, Molnár G, Boldog E, Rózsa M, Szemenyei V, Vámos E, Nagy LI, Tamás G, Puskás LG (Jun 2013). "Digital PCR to determine the number of transcripts from single neurons after patch-clamp recording". BioTechniques. 54 (6): 327–336. doi:10.2144/000114029. PMID 23750542.
  10. Follesa P, Floris G, Asuni GP, et al. Chronic Intermittent Ethanol Regulates Hippocampal GABA(A) Receptor Delta Subunit Gene Expression. Front Cell Neurosci. 2015;9:445. Published 2015 Nov 9. doi:10.3389/fncel.2015.00445

Further reading
  • Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
  • Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T (Jun 2005). "Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy". Epilepsy Research. 65 (1–2): 53–57. doi:10.1016/j.eplepsyres.2005.04.005. PMID 16023832.
  • Windpassinger C, Kroisel PM, Wagner K, Petek E (Jun 2002). "The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression". Gene. 292 (1–2): 25–31. doi:10.1016/S0378-1119(02)00649-2. PMID 12119096.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.