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

Gene ID: 2568, updated on 24-Nov-2020

Summary

Official Symbol
GABRPprovided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit piprovided by HGNC
Primary source
HGNC:HGNC:4089
See related
Ensembl:ENSG00000094755 MIM:602729
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

Genomic context

See GABRP in Genome Data Viewer
Location:
5q35.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (170782841..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 RAN binding protein 17

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
GeneReviews: Not available

HIV-1 interactions

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

General gene information

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
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
gamma-aminobutyric acid type A receptor pi subunit

NCBI Reference Sequences (RefSeq)

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
    5007..35329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291985.2NP_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, U95367
    Consensus CDS
    CCDS75368.1
    UniProtKB/Swiss-Prot
    O00591
    UniProtKB/TrEMBL
    B4DTP4, E7EWG0
    Related
    ENSP00000430727.1, ENST00000519385.5
    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_014211.3NP_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, ENST00000265294.9
    Conserved Domains (1) summary
    cl27321
    Location:43437
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    170782841..170814047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446012.1XP_024301780.1  gamma-aminobutyric acid receptor subunit pi isoform X1

    Conserved Domains (1) summary
    cl27321
    Location:43437
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_005265872.2XP_005265929.1  gamma-aminobutyric acid receptor subunit pi isoform X2

    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
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