GABRG1

Protein-coding gene in the species Homo sapiens
GABRG1
Identifiers
AliasesGABRG1, gamma-aminobutyric acid type A receptor gamma1 subunit, gamma-aminobutyric acid type A receptor subunit gamma1
External IDsOMIM: 137166 MGI: 103156 HomoloGene: 22570 GeneCards: GABRG1
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for GABRG1
Genomic location for GABRG1
Band4p12Start46,035,769 bp[1]
End46,124,054 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for GABRG1
Genomic location for GABRG1
Band5 C3.1|5 37.43 cMStart70,908,390 bp[2]
End70,999,960 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • internal globus pallidus

  • endothelial cell

  • external globus pallidus

  • Brodmann area 23

  • entorhinal cortex

  • caudate nucleus

  • nucleus accumbens

  • amygdala

  • Brodmann area 46

  • hypothalamus
Top expressed in
  • paraventricular nucleus of hypothalamus

  • ventromedial nucleus

  • dorsomedial hypothalamic nucleus

  • arcuate nucleus

  • suprachiasmatic nucleus

  • median eminence

  • lateral hypothalamus

  • globus pallidus

  • mammillary body

  • supraoptic nucleus
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • chloride channel activity
  • extracellular ligand-gated ion channel activity
  • GABA-A receptor activity
  • ion channel activity
  • transmembrane signaling receptor activity
  • GABA receptor binding
  • inhibitory extracellular ligand-gated ion channel activity
  • benzodiazepine receptor activity
  • GABA-gated chloride ion channel activity
  • transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
Cellular component
  • integral component of membrane
  • cell junction
  • postsynaptic membrane
  • plasma membrane
  • receptor complex
  • synapse
  • membrane
  • chloride channel complex
  • integral component of plasma membrane
  • dendrite membrane
  • neuron projection
  • postsynapse
  • GABA-A receptor complex
Biological process
  • gamma-aminobutyric acid signaling pathway
  • ion transmembrane transport
  • chloride transport
  • chloride transmembrane transport
  • ion transport
  • chemical synaptic transmission
  • signal transduction
  • regulation of membrane potential
  • nervous system process
  • synaptic transmission, GABAergic
  • regulation of postsynaptic membrane potential
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2565

14405

Ensembl

ENSG00000163285

ENSMUSG00000001260

UniProt

Q8N1C3

Q9R0Y8

RefSeq (mRNA)

NM_173536

NM_010252

RefSeq (protein)

NP_775807

NP_034382

Location (UCSC)Chr 4: 46.04 – 46.12 MbChr 5: 70.91 – 71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gamma-aminobutyric acid receptor subunit gamma-1 is a protein that in humans is encoded by the GABRG1 gene.[5] The protein encoded by this gene is a subunit of the GABAA receptor.[6]

Variants of this gene may be associated with alcohol dependence.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163285 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001260 – 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. ^ Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D, Sikela JM (July 1992). "Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome". Proc. Natl. Acad. Sci. U.S.A. 89 (13): 5857–5861. Bibcode:1992PNAS...89.5857W. doi:10.1073/pnas.89.13.5857. PMC 49396. PMID 1321425.
  6. ^ Hevers W, Lüddens H (August 1998). "The diversity of GABAA receptors. Pharmacological and electrophysiological properties of GABAA channel subtypes". Mol. Neurobiol. 18 (1): 35–86. doi:10.1007/BF02741459. PMID 9824848. S2CID 32359279.
  7. ^ Ittiwut C, Listman J, Mutirangura A, Malison R, Covault J, Kranzler HR, Sughondhabirom A, Thavichachart N, Gelernter J (January 2008). "Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4". Genomics. 91 (1): 61–69. doi:10.1016/j.ygeno.2007.08.007. PMC 2709929. PMID 17976953.

Further reading

  • Nymann-Andersen J, Wang H, Chen L, et al. (2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". J. Neurochem. 80 (5): 815–823. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. S2CID 38049055.
  • Iwakiri M, Mizukami K, Ikonomovic MD, et al. (2009). "An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression". Neuropathology. 29 (3): 263–269. doi:10.1111/j.1440-1789.2008.00978.x. PMC 3078755. PMID 19019179.
  • Craddock N, Jones L, Jones IR, et al. (2010). "Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype". Mol. Psychiatry. 15 (2): 146–153. doi:10.1038/mp.2008.66. PMC 3967096. PMID 19078961.
  • Ray LA, Hutchison KE (2009). "Associations among GABRG1, level of response to alcohol, and drinking behaviors". Alcohol. Clin. Exp. Res. 33 (8): 1382–1390. doi:10.1111/j.1530-0277.2009.00968.x. PMC 2965732. PMID 19426171.
  • Ittiwut C, Listman J, Mutirangura A, et al. (2008). "Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4". Genomics. 91 (1): 61–69. doi:10.1016/j.ygeno.2007.08.007. PMC 2709929. PMID 17976953.
  • Gratacòs M, Costas J, de Cid R, et al. (2009). "Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment". Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6): 808–816. doi:10.1002/ajmg.b.30902. PMID 19086053. S2CID 44524739.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
  • Bonnert TP, McKernan RM, Farrar S, et al. (1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9891–9896. Bibcode:1999PNAS...96.9891B. doi:10.1073/pnas.96.17.9891. PMC 22306. PMID 10449790.
  • Guilmatre A, Dubourg C, Mosca AL, et al. (2009). "Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation". Arch. Gen. Psychiatry. 66 (9): 947–956. doi:10.1001/archgenpsychiatry.2009.80. PMC 2958844. PMID 19736351.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ma DQ, Whitehead PL, Menold MM, et al. (2005). "Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism". Am. J. Hum. Genet. 77 (3): 377–388. doi:10.1086/433195. PMC 1226204. PMID 16080114.
  • Covault J, Gelernter J, Jensen K, et al. (2008). "Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene". Neuropsychopharmacology. 33 (4): 837–848. doi:10.1038/sj.npp.1301456. PMC 2743531. PMID 17507911.
  • Enoch MA, Hodgkinson CA, Yuan Q, et al. (2009). "GABRG1 and GABRA2 as independent predictors for alcoholism in two populations". Neuropsychopharmacology. 34 (5): 1245–1254. doi:10.1038/npp.2008.171. PMC 2656604. PMID 18818659.
  • Wilcox AS, Warrington JA, Gardiner K, et al. (1992). "Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome". Proc. Natl. Acad. Sci. U.S.A. 89 (13): 5857–5861. Bibcode:1992PNAS...89.5857W. doi:10.1073/pnas.89.13.5857. PMC 49396. PMID 1321425.

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