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Aliases for GABRP Gene

Aliases for GABRP Gene

  • Gamma-Aminobutyric Acid Type A Receptor Pi Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Pi 2
  • GABA(A) Receptor Subunit Pi 4
  • GABA(A) Receptor, 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 GABAergic synapse and Nicotine addiction. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRB1.

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

Additional gene information for GABRP Gene

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

Genomics for GABRP Gene

Regulatory Elements for GABRP Gene

Enhancers for GABRP 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
GH05H170743 1.7 FANTOM5 Ensembl ENCODE dbSUPER 61.2 -17.1 -17116 4 PKNOX1 RB1 ARNT KLF17 ZNF2 RAD21 GLIS2 ZNF143 RCOR1 ZNF391 GABRP ENSG00000253348 LOC105377716
GH05H170749 1.3 FANTOM5 ENCODE dbSUPER 40.8 -12.2 -12170 3 PKNOX1 KLF1 ZNF687 NFIB MNT ZNF592 ZNF217 ZNF692 POLR2A GLIS1 GABRP ENSG00000253348 RPL10P8 LOC105377716
GH05H170329 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14 -429.6 -429574 8 HDGF PKNOX1 ATF1 ARNT SIN3A YBX1 FEZF1 ETS1 ELK1 FOS LCP2 KCNMB1 LINC01366 GABRP CTD-2270F17.1 C5orf58 KCNIP1
GH05H171493 1.3 Ensembl ENCODE 14 +731.5 731524 2 HDGF PKNOX1 ATF1 FEZF1 ZNF766 GLIS2 CBX5 FOS ATF7 SP3 GABRP LOC105377720 FGF18
GH05H170861 1.2 FANTOM5 ENCODE 14.1 +99.2 99192 2 ZNF76 SIN3A YBX1 ZBTB7B RCOR1 EGR2 SMARCA5 SP3 ZNF280D HCFC1 GABRP LOC100419059 RANBP17 RN7SL623P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABRP on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for GABRP Gene

  • Glycosylation at isoforms=43, posLast=102102, isoforms=145, posLast=196196, and isoforms=228
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRP Gene

Domains & Families for GABRP Gene

Gene Families for GABRP Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

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.

Phenotypes From GWAS Catalog for GABRP Gene

Gene Ontology (GO) - Molecular Function for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA --
GO:0005216 ion channel 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 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

CRISPR Products

miRNA for GABRP Gene

miRTarBase miRNAs that target GABRP

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GABRP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRP gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with GABRP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRP Gene

Pathways & Interactions for GABRP Gene

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

Gene Ontology (GO) - Biological Process for GABRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IEA --
GO:0034220 ion transmembrane 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

(67) Drugs for GABRP Gene - From: DrugBank, PharmGKB, 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
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 5
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 21

(2) Additional Compounds for GABRP Gene - From: 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

(5) Tocris Compounds for GABRP Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist 40709-69-1
(-)-Bicuculline methochloride Water-soluble GABAA antagonist 53552-05-9
Muscimol Potent GABAA agonist 2763-96-4
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist 104104-50-9
TP 003 Functionally selective GABAA receptor (alpha3 subtype) partial agonist 628690-75-5
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GABRP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of GABRP Gene:

GABRP

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.

Evidence on tissue expression from TISSUES for GABRP Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with GABRP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GABRP 33 34
  • 99.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GABRP 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRP 33 34
  • 91.44 (n)
cow
(Bos Taurus)
Mammalia GABRP 33 34
  • 91.14 (n)
rat
(Rattus norvegicus)
Mammalia Gabrp 33
  • 89.02 (n)
mouse
(Mus musculus)
Mammalia Gabrp 33 16 34
  • 88.86 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRP 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRP 33 34
  • 75.52 (n)
lizard
(Anolis carolinensis)
Reptilia GABRP 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrp 33
  • 63.52 (n)
zebrafish
(Danio rerio)
Actinopterygii gabrp 33 34
  • 60.78 (n)
worm
(Caenorhabditis elegans)
Secernentea T24D8.1 35
  • 28 (a)
gbr-4 35
  • 27 (a)
K10D6.1 35
  • 25 (a)
Species where no ortholog for GABRP 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)
  • 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
VAR_036034 A breast cancer sample
rs886042237 Uncertain significance 170,805,781(+) GACTG(-/G)AACAC reference, frameshift-variant
rs1000015141 -- 170,802,672(+) TCACA(A/T)ATACC intron-variant
rs1000195492 -- 170,806,402(+) TATTA(A/G)GAACG intron-variant
rs1000240872 -- 170,812,636(+) TAAAG(A/T)AACTA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2731083 CNV deletion 23290073
esv2731085 CNV deletion 23290073
nsv327390 CNV insertion 16902084
nsv600262 CNV gain 21841781

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

Human Gene Mutation Database (HGMD)
GABRP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 EF (The Journal of biological chemistry 1997) 2 3 4 60
  2. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N … O'Donovan MC (Molecular psychiatry 2010) 3 45 60
  3. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 45 60
  4. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PMID: 20583128) Green EK … Craddock N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 45 60
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler HE … Kim SK (PLoS genetics 2009) 3 45 60

Products for GABRP Gene

Sources for GABRP Gene

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