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Aliases for GABRR1 Gene

Aliases for GABRR1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Rho1 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 1 2
  • Gamma-Aminobutyric Acid (GABA) Receptor, Rho 1 2
  • GABA(A) Receptor Subunit Rho-1 4
  • GABA(A) Receptor, Rho 1 2
  • GABA(C) Receptor 4

External Ids for GABRR1 Gene

Previous GeneCards Identifiers for GABRR1 Gene

  • GC06M089834
  • GC06M089883
  • GC06M089944
  • GC06M087103
  • GC06M089887

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 Type A Receptor Rho1 Subunit) is a Protein Coding gene. Among its related pathways are Peptide ligand-binding receptors and Circadian entrainment. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRR2.

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

  • GABAA-rho receptors, previously known as GABAC receptors, are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory effects of GABA. Despite differing in pharmacology, physiology and biochemistry, they are viewed as a subclass of GABAA receptors.

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

Regulatory Elements for GABRR1 Gene

Enhancers for GABRR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GABRR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRR1 Gene

Chromosome:
6
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

Genes around GABRR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for GABRR1 Gene

  • Glycosylation at Asn 140, Asn 234, and Asn 274
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRR1 Gene

Domains & Families for GABRR1 Gene

Gene Families for GABRR1 Gene

Suggested Antigen Peptide Sequences for GABRR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P24046

UniProtKB/Swiss-Prot:

GBRR1_HUMAN :
  • 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.
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.
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 --
GO:0019904 protein domain specific binding IEA --
GO:0042803 protein homodimerization 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with GABRR1: view

Pathways & Interactions 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:0007214 gamma-aminobutyric acid signaling pathway TAS 10779366
GO:0007268 chemical synaptic transmission TAS 1849271
GO:0034220 ion transmembrane transport TAS --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with GABRR1: view

No data available for SIGNOR curated interactions for GABRR1 Gene

Drugs & Compounds for GABRR1 Gene

(37) Drugs for GABRR1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clotiazepam Approved, Illicit Pharma agonist, Target, potentiator 0
Estazolam Approved, Illicit Pharma agonist, Target, potentiator 4

(4) Additional Compounds for GABRR1 Gene - From: IUPHAR and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(??)-<i>cis</i>-2-CAMP
Full agonist, Agonist
THIP
Agonist
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(3) Tocris Compounds for GABRR1 Gene

Compound Action Cas Number
THIP hydrochloride GABAA agonist 85118-33-8
TPMPA Selective GABAA-rho antagonist 182485-36-5
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 (x16.6), Testis (x8.6), and Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for GABRR1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRR1 Gene



Protein tissue co-expression partners for GABRR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GABRR1 Gene:

GABRR1

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 expression patterns with GABRR1: view

Primer Products

Orthologs for GABRR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRR1 34
  • 91.16 (n)
  • 96.94 (a)
GABRR1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRR1 34
  • 90.98 (n)
  • 95.45 (a)
GABRR1 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrr1 34
  • 87.68 (n)
  • 94.15 (a)
Gabrr1 16
Gabrr1 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRR1 34
  • 99.3 (n)
  • 99.16 (a)
GABRR1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrr1 34
  • 88.59 (n)
  • 94.36 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRR1 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRR1 35
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRR1 34
  • 82.25 (n)
  • 89.94 (a)
GABRR1 35
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRR1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497913 34
  • 75.42 (n)
  • 85.92 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100330554 34
  • 75.2 (n)
  • 79.73 (a)
gabrr1 35
  • 73 (a)
OneToMany
GABRR1 (1 of 2) 35
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7589 36
  • 27 (a)
Rdl 36
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea C39B10.2 36
  • 31 (a)
C53D6.3 36
  • 32 (a)
F09G2.5 36
  • 27 (a)
F11H8.2 36
  • 35 (a)
F55D10.5 36
  • 26 (a)
F58G6.4 36
  • 30 (a)
gab-1 36
  • 50 (a)
gbr-4 36
  • 30 (a)
gbr-5 36
  • 32 (a)
gbr-6 36
  • 30 (a)
glc-4 36
  • 30 (a)
K10D6.1 36
  • 31 (a)
T15B7.16 36
  • 31 (a)
T20B12.9 36
  • 26 (a)
T27E9.9 36
  • 29 (a)
W10G11.16 36
  • 34 (a)
Y39A3B.2 36
  • 32 (a)
Y46G5A.26 36
  • 33 (a)
Species where no ortholog for GABRR1 was found in the sources mined by GeneCards:
  • 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
rs1186902 - 89,217,243(+) GCCAG(C/T)GCATT intron-variant, reference, missense, utr-variant-5-prime
rs12200969 - 89,217,247(+) GTGCA(C/T)TCTGC intron-variant, reference, missense, utr-variant-5-prime
rs833246 -- 89,184,801(+) CATTG(A/G)TAATA intron-variant
rs833247 -- 89,189,351(+) ttcat(A/G)tcctt intron-variant
rs844278 -- 89,184,794(+) TCTGA(C/T)GCATT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv10836n54 CNV loss 21841781
dgv3347n106 CNV deletion 24896259
esv1605831 OTHER inversion 17803354
esv2400913 CNV deletion 18987734
esv2479057 CNV deletion 19546169
esv2539853 OTHER inversion 19546169
esv2662166 CNV deletion 23128226
esv2732407 CNV deletion 23290073
esv29539 CNV gain+loss 19812545
esv3265 CNV loss 18987735
esv3540120 CNV deletion 23714750
esv3571284 CNV loss 25503493
esv3609898 CNV loss 21293372
esv3890901 CNV gain 25118596
esv5895 OTHER inversion 19470904
esv9656 CNV loss 19470904
esv997828 CNV gain 20482838
nsv1023532 CNV loss 25217958
nsv1027007 CNV gain 25217958
nsv1068318 OTHER inversion 25765185
nsv1074946 CNV deletion 25765185
nsv1133099 OTHER inversion 24896259
nsv1139867 CNV duplication 24896259
nsv956512 CNV deletion 24416366

Variation tolerance for GABRR1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.81; 86.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRR1 Gene

Disorders for GABRR1 Gene

Relevant External Links for GABRR1

Genetic Association Database (GAD)
GABRR1
Human Genome Epidemiology (HuGE) Navigator
GABRR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRR1

No disorders were found for GABRR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GABRR1 Gene

Publications for GABRR1 Gene

  1. 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 22 65
  2. 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 65
  3. 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 46 65
  4. GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence. (PMID: 19536785) Xuei X. … Edenberg H.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 65
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro A.P. … Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 65

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