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Aliases for GABRP Gene

Aliases for GABRP Gene

  • Gamma-Aminobutyric Acid Type A Receptor Pi Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Pi 2 5
  • GABA(A) Receptor Subunit Pi 4
  • GABA(A) Receptor 2
  • Pi 2

External Ids for GABRP Gene

Previous GeneCards Identifiers for GABRP Gene

  • GC05P170445
  • GC05P170913
  • GC05P170146
  • GC05P170191
  • GC05P170143
  • GC05P165308

Summaries for GABRP Gene

Entrez Gene Summary for GABRP Gene

  • The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for GABRP Gene

GABRP (Gamma-Aminobutyric Acid Type A Receptor Pi Subunit) is a Protein Coding gene. Among its related pathways are Circadian entrainment and Peptide ligand-binding receptors. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GABRP 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. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.

Tocris Summary for GABRP Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRP Gene

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

Genomics for GABRP Gene

Regulatory Elements for GABRP Gene

Genomic Location for GABRP Gene

Chromosome:
5
Start:
170,763,350 bp from pter
End:
170,814,047 bp from pter
Size:
50,698 bases
Orientation:
Plus strand

Genomic View for GABRP Gene

Genes around GABRP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GABRP Gene

Proteins for GABRP Gene

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

    Protein Symbol:
    O00591-GBRP_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit pi
    Protein Accession:
    O00591
    Secondary Accessions:
    • A8KA36
    • D3DQL2
    • Q32MJ1

    Protein attributes for GABRP Gene

    Size:
    440 amino acids
    Molecular mass:
    50640 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex.

neXtProt entry for GABRP Gene

Proteomics data for GABRP Gene at MOPED

Post-translational modifications for GABRP Gene

  • Glycosylation at Asn 43, Asn 102, Asn 145, Asn 196, and Asn 228
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for GABRP Gene

Domains & Families for GABRP Gene

Gene Families for GABRP Gene

Graphical View of Domain Structure for InterPro Entry

O00591

UniProtKB/Swiss-Prot:

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

Function for GABRP Gene

Molecular function for GABRP Gene

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. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.

Gene Ontology (GO) - Molecular Function for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
genes like me logo Genes that share ontologies with GABRP: view
genes like me logo Genes that share phenotypes with GABRP: view

Animal Models for GABRP Gene

MGI Knock Outs for GABRP:

Animal Model Products

miRNA for GABRP Gene

miRTarBase miRNAs that target GABRP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GABRP Gene

Localization for GABRP Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRP 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 GABRP Gene COMPARTMENTS Subcellular localization image for GABRP gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with GABRP: view

Pathways & Interactions for GABRP Gene

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

Interacting Proteins for GABRP Gene

Gene Ontology (GO) - Biological Process for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with GABRP: view

No data available for SIGNOR curated interactions for GABRP Gene

Drugs & Compounds for GABRP Gene

(61) Drugs for GABRP Gene - From: Tocris, DrugBank, PharmGKB, DGIdb, HMDB, and IUPHAR

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
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 4
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 19

(6) Additional Compounds for GABRP Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
gaba
56-12-2
Isoguvacine hydrochloride
68547-97-7
TACA
38090-53-8

(5) Tocris Compounds for GABRP Gene

Compound Action Cas Number
GABA Endogenous agonist 56-12-2
Isoguvacine hydrochloride Selective GABAA agonist 68547-97-7
Muscimol Potent GABAA agonist 2763-96-4
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
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 GABRP: view

Transcripts for GABRP Gene

Unigene Clusters for GABRP Gene

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

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1:
SP2:
SP3: -

Relevant External Links for GABRP Gene

GeneLoc Exon Structure for
GABRP
ECgene alternative splicing isoforms for
GABRP

Expression for GABRP Gene

mRNA expression in normal human tissues for GABRP Gene

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

This gene is overexpressed in Breast - Mammary Tissue (x13.8), Esophagus - Mucosa (x9.4), Minor Salivary Gland (x7.1), Vagina (x5.6), and Skin - Sun Exposed (Lower leg) (x4.7).

SOURCE GeneReport for Unigene cluster for GABRP Gene Hs.26225

mRNA Expression by UniProt/SwissProt for GABRP Gene

O00591-GBRP_HUMAN
Tissue specificity: Most abundant in the uterus, also expressed in lung, thymus and prostate.
genes like me logo Genes that share expression patterns with GABRP: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GABRP Gene

Orthologs for GABRP Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRP 35
  • 91.14 (n)
  • 94.09 (a)
GABRP 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRP 35
  • 91.44 (n)
  • 95 (a)
GABRP 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrp 35
  • 88.86 (n)
  • 92.73 (a)
Gabrp 16
Gabrp 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRP 35
  • 99.17 (n)
  • 99.77 (a)
GABRP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrp 35
  • 89.02 (n)
  • 92.95 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRP 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRP 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRP 35
  • 75.52 (n)
  • 79.49 (a)
GABRP 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRP 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrp 35
  • 63.52 (n)
  • 62.24 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrp 35
  • 60.78 (n)
  • 60.7 (a)
gabrp 36
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gbr-4 37
  • 27 (a)
K10D6.1 37
  • 25 (a)
T24D8.1 37
  • 28 (a)
Species with no ortholog for GABRP:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 GABRP Gene

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

Paralogs for GABRP Gene

Pseudogenes.org Pseudogenes for GABRP Gene

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

Variants for GABRP Gene

Sequence variations from dbSNP and Humsavar for GABRP Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1063310 - 170,812,108(+) AAGTT(A/C)AAGTT reference, missense, utr-variant-3-prime
VAR_036034 A breast cancer sample
rs732157 -- 170,784,247(+) AGTGA(C/T)AAGGA intron-variant
rs929761 -- 170,783,757(+) ACATA(C/T)GAGGG intron-variant, utr-variant-5-prime
rs929762 -- 170,783,816(+) TTGCC(C/T)GGAAG intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2731083 CNV Deletion 23290073
nsv327390 CNV Insertion 16902084
esv2731085 CNV Deletion 23290073

Variation tolerance for GABRP Gene

Residual Variation Intolerance Score: 65.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.21; 88.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRP Gene

HapMap Linkage Disequilibrium report
GABRP

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

Disorders for GABRP Gene

Relevant External Links for GABRP

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

No disorders were found for GABRP Gene.

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

Publications for GABRP Gene

  1. A novel class of GABAA receptor subunit in tissues of the reproductive system. (PMID: 9182563) Hedblom E. … Kirkness E.F. (J. Biol. Chem. 1997) 2 3 4 67
  2. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  3. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  4. Benzodiazepine metabolism: an analytical perspective. (PMID: 18855614) Mandrioli R. … Raggi M.A. (Curr. Drug Metab. 2008) 25 26
  5. Ethanol acts directly on extrasynaptic subtypes of GABAA receptors to increase tonic inhibition. (PMID: 17591544) Santhakumar V. … Otis T.S. (Alcohol 2007) 25 26

Products for GABRP Gene

Sources for GABRP Gene

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