GABRG1:Gamma-aminobutyric acid receptor subunit gamma-1

Gene Name
Gamma-aminobutyric acid receptor subunit gamma-1
Protein ID
Q8N1C3
Chromosome ID
4
HPP Status
2
Protein Name
Gamma-aminobutyric acid receptor subunit gamma-1
Synonyms

gamma-aminobutyric acid receptor subunit gamma-1

GABA(A) receptor, gamma

GABA(A) receptor subunit gamma-1

gamma-aminobutyric acid (GABA) A receptor, gamma 1

gamma"

gamma-1 polypeptide

"GABA(A) receptor


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRG1 ]
Chromosomal Position
4p12 | Start:46035769 End:46035769
Sequence
Q8N1C3.fasta
Description

Entrez Gene Summary for GABRG1
The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. (provided by RefSeq, Jul 2008)

UniProtKB Summary for GABRG1
Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

Tocris Summary for GABRG1
GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRG1 ]
External IDs
Hgnc ID: 4086 EntrezGene ID: 2565 Ensembl ID: ENSG00000163285
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=GABRG1 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
16080114Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2008-03-13
17507911Logistic regression analysis indicated that genetic elements in the GABRG1 haplotype block likely contribute to alcohol dependence risk in an additive manner.2010-01-21
17507911Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17976953study of patterns of htSNPs & linkage disequilibrium (LD)in 6 populations; LD extended from most of the GABRA2 gene through the GABRG1 locus in the same GABAA cluster region suggesting possible association of these genes with alcohol dependence2010-01-21
18818659Observational study of gene-disease association. (HuGE Navigator)2008-10-08
19019179results of the present study suggest that hippocampal neurons expressing GABAAgamma receptor subunits resist the progression of neurofibrillary degeneration in Alzheimer disease hippocampus2010-01-21
19078961Observational study of gene-disease association. (HuGE Navigator)2009-01-11
19086053Observational study of gene-disease association. (HuGE Navigator)2009-01-11
19426171A single nucleotide polymorphism of the GABRG1 gene (rs1497571) is associated with level of response to alcohol and drinking patterns.2010-04-19
19426171Observational study of gene-disease association. (HuGE Navigator)2009-05-17
19736351Observational study of gene-disease association. (HuGE Navigator)2009-09-20
20379614Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)2010-06-30
20468064Observational study of gene-disease association. (HuGE Navigator)2010-06-30
20583128Observational study of gene-disease association. (HuGE Navigator)2010-09-15
21750581An intronic single nucleotide polymorphism (SNP) (rs17536211) in GABRG1 shows the strongest statistical evidence of association of recovery from eating disorders.2012-03-24
21919924we genotyped 13 single nucleotide polymorphisms spanning GABRG1 and GABRA2 in African Americans with alcohol dependence2012-07-21
22817768A significant GABRG1 genotype influences self-administration of alcohol and GABAergic manipulation.2013-10-19
24425869Switching the intracellular domains of the gamma2 and gamma1 subunits substantiated this inference. Because this region determines post-synaptic localization, we hypothesize that GABAARs containing gamma1 and gamma2 use different mechanisms for synaptic clustering.2014-04-26
26087834rs1497577 not significantly associated with adaptation to subjective responses to alcohol2016-04-16
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceGBRG1_HUMANGBRG2_RAT46541880.3889.8978350465514660659
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
GBRG1_HUMANIPR005437GO:0004890FamilyGamma-aminobutyric-acid A receptor, gamma subunitMolecular FunctionGABA-A receptor activity
GBRG1_HUMANIPR005437GO:0006821FamilyGamma-aminobutyric-acid A receptor, gamma subunitBiological Processchloride transport
GBRG1_HUMANIPR005437GO:0007214FamilyGamma-aminobutyric-acid A receptor, gamma subunitBiological Processgamma-aminobutyric acid signaling pathway
GBRG1_HUMANIPR005437GO:0016021FamilyGamma-aminobutyric-acid A receptor, gamma subunitCellular Componentintegral to membrane
GBRG1_HUMANIPR005438GO:0004890FamilyGamma-aminobutyric-acid A receptor, gamma 1 subunitMolecular FunctionGABA-A receptor activity
GBRG1_HUMANIPR005438GO:0006821FamilyGamma-aminobutyric-acid A receptor, gamma 1 subunitBiological Processchloride transport
GBRG1_HUMANIPR005438GO:0007214FamilyGamma-aminobutyric-acid A receptor, gamma 1 subunitBiological Processgamma-aminobutyric acid signaling pathway
GBRG1_HUMANIPR005438GO:0016021FamilyGamma-aminobutyric-acid A receptor, gamma 1 subunitCellular Componentintegral to membrane
GBRG1_HUMANIPR006028GO:0006811FamilyGamma-aminobutyric acid A receptorBiological Procession transport
GBRG1_HUMANIPR006028GO:0016021FamilyGamma-aminobutyric acid A receptorCellular Componentintegral to membrane
GBRG1_HUMANIPR006029GO:0006811DomainNeurotransmitter-gated ion-channel transmembrane domainBiological Procession transport
GBRG1_HUMANIPR006029GO:0016020DomainNeurotransmitter-gated ion-channel transmembrane domainCellular Componentmembrane
GBRG1_HUMANIPR006201GO:0006811FamilyNeurotransmitter-gated ion-channelBiological Procession transport
GBRG1_HUMANIPR006201GO:0016021FamilyNeurotransmitter-gated ion-channelCellular Componentintegral to membrane
GBRG1_HUMANIPR006202GO:0005230DomainNeurotransmitter-gated ion-channel ligand-bindingMolecular Functionextracellular ligand-gated ion channel activity
GBRG1_HUMANIPR006202GO:0006810DomainNeurotransmitter-gated ion-channel ligand-bindingBiological Processtransport
GBRG1_HUMANIPR006202GO:0016020DomainNeurotransmitter-gated ion-channel ligand-bindingCellular Componentmembrane
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

KEGG Pathways

Pathway IDDatabase NamePathway Name
hsa04080KEGG PATHWAYNeuroactive ligand-receptor interaction
hsa04723KEGG PATHWAYRetrograde endocannabinoid signaling
hsa04727KEGG PATHWAYGABAergic synapse
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




Showing 1-2 of 2 items.

gpmDB

Peptide SequenceEvidence LevelLog ENumber Of ObservationSpectraAccession IDProteotypicityAnnotation
LYQFAFVGLRred-6.1171ENSP00000295452Proteotypic
LYQFAFVGLRred-6.1171ENSP00000295452Proteotypic
Evidence File
/mnt/mpp/ms_data/Q8N1C3_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM


Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q8N1C3_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB