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GABRP gamma-aminobutyric acid type A receptor pi subunit [ Homo sapiens (human) ]

Gene ID: 2568, updated on 27-Jan-2018
Official Symbol
GABRPprovided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor pi subunitprovided by HGNC
Primary source
HGNC:HGNC:4089
See related
Ensembl:ENSG00000094755 MIM:602729; Vega:OTTHUMG00000130443
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Biased expression in esophagus (RPKM 45.1), endometrium (RPKM 30.6) and 5 other tissues See more
Orthologs
Location:
5q35.1
Exon count:
10
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (170783719..170814047)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (170210723..170241051)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986474 Neighboring gene uncharacterized LOC107986475 Neighboring gene RNA, 7SL, cytoplasmic 623, pseudogene Neighboring gene tubulin epsilon 1 pseudogene Neighboring gene tubulin epsilon 1 pseudogene Neighboring gene RAN binding protein 17

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Genes, including GABRP, ADF, HINT, PRSS2, SDCBP, PTK9, PPP2R5B, ITGA3, PRKCBP1, HMOX2, HAT1, PPP1cB, and ICAM-1, are upregulated after treatment of human astrocytes with HIV-1 gp120 PubMed

Go to the HIV-1, Human Interaction Database

  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...

Markers

Homology

Clone Names

  • MGC126386, MGC126387

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gamma-aminobutyric acid receptor subunit pi
Names
GABA(A) receptor subunit pi
GABA(A) receptor, pi
gamma-aminobutyric acid (GABA) A receptor, pi

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052803.1 RefSeqGene

    Range
    5001..35329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291985.1NP_001278914.1  gamma-aminobutyric acid receptor subunit pi isoform 2 precursor

    See identical proteins and their annotated locations for NP_001278914.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the penultimate exon, which causes a frameshift, compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC008514, AK300303, BC074810, DC346374, U95367
    Consensus CDS
    CCDS75368.1
    UniProtKB/Swiss-Prot
    O00591
    UniProtKB/TrEMBL
    B4DTP4, E7EWG0
    Related
    ENSP00000430727.1, OTTHUMP00000223235, ENST00000519385.5, OTTHUMT00000371873
    Conserved Domains (2) summary
    pfam02931
    Location:41242
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:249277
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. NM_014211.2NP_055026.1  gamma-aminobutyric acid receptor subunit pi isoform 1 precursor

    See identical proteins and their annotated locations for NP_055026.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC008514, AL708685, BC109106
    Consensus CDS
    CCDS4375.1
    UniProtKB/Swiss-Prot
    O00591
    Related
    ENSP00000265294.4, ENST00000265294.8
    Conserved Domains (3) summary
    TIGR00860
    Location:43437
    LIC; Cation transporter family protein
    pfam02931
    Location:41242
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:249329
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

    Range
    170783719..170814047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265872.2XP_005265929.1  gamma-aminobutyric acid receptor subunit pi isoform X1

    See identical proteins and their annotated locations for XP_005265929.1

    Conserved Domains (2) summary
    pfam02931
    Location:1163
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:170250
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    169643250..169673563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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