Human Gene GABRG1 (uc003gxb.3) Description and Page Index
  Description: Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.
RefSeq Summary (NM_173536): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX648937.1, SRR1660803.87940.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145245, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000295452.5/ ENSP00000295452.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr4:46,037,787-46,126,082 Size: 88,296 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr4:46,043,005-46,125,930 Size: 82,926 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr4:46,037,787-46,126,082)mRNA (may differ from genome)Protein (465 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit gamma-1; AltName: Full=GABA(A) receptor subunit gamma-1; Flags: Precursor;
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.
SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
PTM: May be palmitoylated (By similarity).
MISCELLANEOUS: This subunit carries the benzodiazepine binding site.
SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG1 sub-subfamily.
WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GABRG1
CDC HuGE Published Literature: GABRG1
Positive Disease Associations: Blood Pressure , Carotid Artery Diseases , Mortality
Related Studies:
  1. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  2. Carotid Artery Diseases
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  3. Mortality
    Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics. [PubMed 17903295]
    Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GABRG1
Diseases sorted by gene-association score: alcohol dependence (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.16 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 114.29 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.00152-0.362 Picture PostScript Text
3' UTR -1210.675218-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006028 - GABAA_rcpt
IPR005438 - GABBAg1_rcpt
IPR005437 - GABBAg_rcpt
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

SCOP Domains:
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore

ModBase Predicted Comparative 3D Structure on Q8N1C3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0004890 GABA-A receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
GO:0050811 GABA receptor binding

Biological Process:
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 chemical synaptic transmission
GO:0034220 ion transmembrane transport
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex
GO:0043235 receptor complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane

-  Descriptions from all associated GenBank mRNAs
  KJ896851 - Synthetic construct Homo sapiens clone ccsbBroadEn_06245 GABRG1 gene, encodes complete protein.
CR933628 - Homo sapiens mRNA; cDNA DKFZp686H2042 (from clone DKFZp686H2042).
BX648937 - Homo sapiens mRNA; cDNA DKFZp686G1844 (from clone DKFZp686G1844).
AK124800 - Homo sapiens cDNA FLJ42810 fis, clone BRCAN2008894.
AK122845 - Homo sapiens cDNA FLJ16458 fis, clone BRAWH3009546, highly similar to Gamma-aminobutyric-acid receptor gamma-1 subunit precursor.
BC031087 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1, mRNA (cDNA clone MGC:33838 IMAGE:5289008), complete cds.
JD298854 - Sequence 279878 from Patent EP1572962.
AK299884 - Homo sapiens cDNA FLJ56944 complete cds, highly similar to Gamma-aminobutyric-acid receptor gamma-1subunit precursor.
AK289806 - Homo sapiens cDNA FLJ78149 complete cds, highly similar to Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1, mRNA.
JD562892 - Sequence 543916 from Patent EP1572962.
JD410398 - Sequence 391422 from Patent EP1572962.
JD092799 - Sequence 73823 from Patent EP1572962.
DQ890976 - Synthetic construct clone IMAGE:100003606; FLH168161.01X; RZPDo839C1192D gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1) gene, encodes complete protein.
DQ894150 - Synthetic construct Homo sapiens clone IMAGE:100008610; FLH168157.01L; RZPDo839C1191D gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1) gene, encodes complete protein.
CU689108 - Synthetic construct Homo sapiens gateway clone IMAGE:100019524 5' read GABRG1 mRNA.
JD202626 - Sequence 183650 from Patent EP1572962.
JD117761 - Sequence 98785 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

-  Other Names for This Gene
  Alternate Gene Symbols: GBRG1_HUMAN, NM_173536, NP_775807, Q5H9T8, Q8N1C3
UCSC ID: uc003gxb.3
RefSeq Accession: NM_173536
Protein: Q8N1C3 (aka GBRG1_HUMAN or GAC1_HUMAN)
CCDS: CCDS3470.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_173536.3
exon count: 9CDS single in 3' UTR: no RNA size: 6769
ORF size: 1398CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2705.00frame shift in genome: no % Coverage: 99.99
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.