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Aliases for GABRR1 Gene

Aliases for GABRR1 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 1 2 3
  • Gamma-Aminobutyric Acid (GABA) Receptor, Rho 1 2
  • GABA(A) Receptor Subunit Rho-1 4
  • GABA(A) Receptor 2
  • GABA(C) Receptor 4
  • Rho 1 2

External Ids for GABRR1 Gene

Summaries for GABRR1 Gene

Entrez Gene Summary for GABRR1 Gene

  • GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for GABRR1 Gene

GABRR1 (Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 1) is a Protein Coding gene. Among its related pathways are Circadian entrainment and GABA receptor activation. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GLRA3.

UniProtKB/Swiss-Prot for GABRR1 Gene

  • 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. Rho-1 GABA receptor could play a role in retinal neurotransmission

Tocris Summary for GABRR1 Gene

  • GABAC receptors are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory effects of GABA. Despite differing in physiology, biochemistry and pharmacology, GABAC receptors are viewed as a subclass of GABAA receptors. GABAC receptors exist as both homo- and hetero-oligomeric pentamers of the 3 GABAC subunits which have so far been discovered; rho1, rho2, rho3. The resulting ion channel is not blocked or modulated by GABAA receptor ligands, but is 10 times more sensitive to the effects of GABA and selectively blocked by TPMPA. In addition, the GABAC receptor has a longer channel opening time and is slower to desensitize. GABAC receptors are expressed in various brain regions and particularly high levels are found in the retina.

Gene Wiki entry for GABRR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRR1 Gene

Genomics for GABRR1 Gene

Genomic Location for GABRR1 Gene

Start:
89,177,501 bp from pter
End:
89,231,288 bp from pter
Size:
53,788 bases
Orientation:
Minus strand

Genomic View for GABRR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRR1 Gene

Regulatory Elements for GABRR1 Gene

Proteins for GABRR1 Gene

  • Protein details for GABRR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24046-GBRR1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit rho-1
    Protein Accession:
    P24046
    Secondary Accessions:
    • A1L401
    • B4DJK8
    • B4DQT5
    • B7ZBQ7
    • Q9BX06

    Protein attributes for GABRR1 Gene

    Size:
    479 amino acids
    Molecular mass:
    55883 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By similarity).
    SequenceCaution:
    • Sequence=AAA52509.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI30345.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GABRR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRR1 Gene

Proteomics data for GABRR1 Gene at MOPED

Post-translational modifications for GABRR1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn140, Asn234, and Asn274

Other Protein References for GABRR1 Gene

No data available for DME Specific Peptides for GABRR1 Gene

Domains for GABRR1 Gene

Gene Families for GABRR1 Gene

HGNC:
  • GABRA :Ligand-gated ion channels / GABA(A) receptors
  • GABR :GABA receptors
IUPHAR :

UniProtKB/Swiss-Prot:

GBRR1_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR1 sub-subfamily.:
    • P24046
genes like me logo Genes that share domains with GABRR1: view

Function for GABRR1 Gene

Molecular function for GABRR1 Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 1,preferentially expressed in retina,subunit part of a trimeric receptor,mediating inhibitory neurotransmission,colocalizing with MAP1B at post synaptic sites on bipolar cell axon terminals
UniProtKB/Swiss-Prot 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. Rho-1 GABA receptor could play a role in retinal neurotransmission

Gene Ontology (GO) - Molecular Function for GABRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
genes like me logo Genes that share ontologies with GABRR1: view
genes like me logo Genes that share phenotypes with GABRR1: view

Animal Models for GABRR1 Gene

MGI Knock Outs for GABRR1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GABRR1 Gene

Localization for GABRR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRR1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRR1 Gene COMPARTMENTS Subcellular localization image for GABRR1 gene
Compartment Confidence
plasma membrane 5
extracellular 2

Gene Ontology (GO) - Cellular Components for GABRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10779366
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRR1: view

Pathways for GABRR1 Gene

genes like me logo Genes that share pathways with GABRR1: view

Gene Ontology (GO) - Biological Process for GABRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 1849271
GO:0006811 ion transport --
GO:0007214 gamma-aminobutyric acid signaling pathway TAS 10779366
GO:0007268 synaptic transmission TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRR1: view

Compounds for GABRR1 Gene

(3) Tocris Compounds for GABRR1 Gene

Compound Action Cas Number
THIP hydrochloride GABAA agonist [64603-91-4]
TPMPA Selective GABAC antagonist [182485-36-5]
ZAPA sulfate Agonist at low affinity GABAA receptor. More potent than GABA/muscimol [92138-10-8]

(2) HMDB Compounds for GABRR1 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2

(23) Drugbank Compounds for GABRR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adinazolam
37115-32-5 target potentiator
Alprazolam
28981-97-7 target potentiator
Bromazepam
  • 7-Bromo-5-(2-pyridyl)-3H-1,4-benzodiaxepin-2(1H)-one
1812-30-2 target potentiator
Chlordiazepoxide
58-25-3 target potentiator
Cinolazepam
75696-02-5 target potentiator

(13) IUPHAR Ligand for GABRR1 Gene

Ligand Type Action Affinity Pubmed IDs
aza-THIP Antagonist Antagonist
TBPS Channel blocker None
piperidine-4-sulphonic acid Agonist Full agonist
muscimol Agonist Full agonist
isoguvacine Agonist Full agonist
trans-3-ACPBPA Antagonist Antagonist
cis-3-ACPBPA Antagonist Antagonist
THIP Agonist Agonist
5-Me-IAA Agonist Full agonist
(??)-cis-2-CAMP Agonist Full agonist
isonipecotic acid Agonist Full agonist
picrotoxin Channel blocker None
TPMPA Antagonist Antagonist
genes like me logo Genes that share compounds with GABRR1: view

Transcripts for GABRR1 Gene

Unigene Clusters for GABRR1 Gene

Gamma-aminobutyric acid (GABA) A receptor, rho 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GABRR1 Gene

No ASD Table

Relevant External Links for GABRR1 Gene

GeneLoc Exon Structure for
GABRR1
ECgene alternative splicing isoforms for
GABRR1

Expression for GABRR1 Gene

mRNA expression in normal human tissues for GABRR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRR1 Gene

This gene is overexpressed in Artery - Aorta (16.6), Testis (8.6), and Artery - Tibial (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRR1 Gene

SOURCE GeneReport for Unigene cluster for GABRR1 Gene Hs.99927

mRNA Expression by UniProt/SwissProt for GABRR1 Gene

P24046-GBRR1_HUMAN
Tissue specificity: Highly expressed in the retina and in a lesser extent in brain, lung and thymus
genes like me logo Genes that share expressions with GABRR1: view

Orthologs for GABRR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRR1 36
  • 99.3 (n)
  • 99.16 (a)
GABRR1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRR1 36
  • 91.16 (n)
  • 96.94 (a)
GABRR1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRR1 36
  • 90.98 (n)
  • 95.45 (a)
GABRR1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrr1 36
  • 87.68 (n)
  • 94.15 (a)
Gabrr1 16
Gabrr1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRR1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRR1 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrr1 36
  • 88.59 (n)
  • 94.36 (a)
chicken
(Gallus gallus)
Aves GABRR1 36
  • 82.25 (n)
  • 89.94 (a)
GABRR1 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRR1 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497913 36
  • 75.42 (n)
  • 85.92 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrr1 37
  • 73 (a)
OneToMany
GABRR1 (1 of 2) 37
  • 69 (a)
OneToMany
LOC100330554 36
  • 75.2 (n)
  • 79.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7589 38
  • 27 (a)
Rdl 38
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea glc-4 38
  • 30 (a)
F09G2.5 38
  • 27 (a)
gbr-4 38
  • 30 (a)
C39B10.2 38
  • 31 (a)
F55D10.5 38
  • 26 (a)
gbr-5 38
  • 32 (a)
T20B12.9 38
  • 26 (a)
W10G11.16 38
  • 34 (a)
F58G6.4 38
  • 30 (a)
Y46G5A.26 38
  • 33 (a)
F11H8.2 38
  • 35 (a)
C53D6.3 38
  • 32 (a)
K10D6.1 38
  • 31 (a)
gab-1 38
  • 50 (a)
gbr-6 38
  • 30 (a)
T27E9.9 38
  • 29 (a)
T15B7.16 38
  • 31 (a)
Y39A3B.2 38
  • 32 (a)
Species with no ortholog for GABRR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABRR1 Gene

ENSEMBL:
Gene Tree for GABRR1 (if available)
TreeFam:
Gene Tree for GABRR1 (if available)

Paralogs for GABRR1 Gene

genes like me logo Genes that share paralogs with GABRR1: view

Variants for GABRR1 Gene

Sequence variations from dbSNP and Humsavar for GABRR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs43993 -- 89,222,236(-) TTATC(C/T)AGGTA intron-variant
rs166857 -- 89,227,028(+) agcaa(C/T)tgtga intron-variant
rs282112 -- 89,218,983(+) AGACA(C/T)ggcgg upstream-variant-2KB, intron-variant
rs282113 -- 89,221,863(+) TCACT(A/G)TATCG intron-variant
rs282114 -- 89,222,485(+) AGACC(A/G)TTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRR1 Gene

Variant ID Type Subtype PubMed ID
nsv886337 CNV Loss 21882294
esv2479057 CNV Deletion 19546169
esv2400913 CNV Deletion 18987734
esv29539 CNV Gain+Loss 19812545
esv997828 CNV Gain 20482838
esv2732407 CNV Deletion 23290073
esv3265 CNV Deletion 18987735
esv9656 CNV Loss 19470904
esv2662166 CNV Deletion 23128226
esv2539853 OTHER Inversion 19546169
esv5895 OTHER Inversion 19470904
esv1605831 OTHER Inversion 17803354

Relevant External Links for GABRR1 Gene

HapMap Linkage Disequilibrium report
GABRR1

Disorders for GABRR1 Gene

(1) University of Copenhagen DISEASES for GABRR1 Gene

Relevant External Links for GABRR1

Genetic Association Database (GAD)
GABRR1
Human Genome Epidemiology (HuGE) Navigator
GABRR1
genes like me logo Genes that share disorders with GABRR1: view

No data available for UniProtKB/Swiss-Prot for GABRR1 Gene

Publications for GABRR1 Gene

  1. Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. (PMID: 1849271) Cutting G.R. … Kazazian H.H. Jr. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4
  2. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. (PMID: 1315307) Cutting G.R. … Uhl G.R. (Genomics 1992) 2 3 23
  3. Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. (PMID: 10542332) Bailey M.E.S. … Darlison M.G. (Biochim. Biophys. Acta 1999) 3 23
  4. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N. … O'Donovan M.C. (Mol. Psychiatry 2010) 3 49
  5. 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. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 49

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