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

Gene ID: 2568, updated on 14-Nov-2024

Summary

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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; AllianceGenome:HGNC:4089
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
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Genomic context

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See GABRP in Genome Data Viewer
Location:
5q35.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (170782720..170814047)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (171322360..171353718)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (170210729..170241051)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:170065509-170066304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:170066305-170067098 Neighboring gene KCNIP1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:170170758-170171517 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170172277-170173036 Neighboring gene uncharacterized LOC107986473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170173037-170173795 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170176075-170176832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170179101-170179985 Neighboring gene uncharacterized LOC107986474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170178216-170179100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170186375-170186905 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170189029-170189559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170193927-170194791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:170194792-170195655 Neighboring gene uncharacterized LOC107986475 Neighboring gene tubulin epsilon 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:170329817-170330318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:170330319-170330818 Neighboring gene RNA, 7SL, cytoplasmic 623, pseudogene Neighboring gene RAN binding protein 17

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GABRP Promotes the Metastasis of Pancreatic Cancer by Activation of the MEK/ERK Signaling Pathway.
    Title: GABRP Promotes the Metastasis of Pancreatic Cancer by Activation of the MEK/ERK Signaling Pathway.
  2. GABRP promotes CD44s-mediated gemcitabine resistance in pancreatic cancer.
    Title: GABRP promotes CD44s-mediated gemcitabine resistance in pancreatic cancer.
  3. The Emerging Roles of pi Subunit-Containing GABAA Receptors in Different Cancers.
    Title: The Emerging Roles of π Subunit-Containing GABA(A) Receptors in Different Cancers.
  4. GABRP sustains the stemness of triple-negative breast cancer cells through EGFR signaling.
    Title: GABRP sustains the stemness of triple-negative breast cancer cells through EGFR signaling.
  5. Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast.
    Title: Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast.
  6. rs505474, rs1398175, and rs4868029 in the GABRA2, GABRA4, and GABRP genes, respectively, allele frequencies were significantly different between patients and controls.Four haplotypes were significantly associated with Bipolar Disorder (TA and AG for rs3815762 and rs4868029 in GABRP, GG for rs11636988 and rs8024256 in GABRB3 and GAGG for rs2197414, rs4921195, rs13188991, and rs11956731 in GABRA6.
    Title: Contribution of genes in the GABAergic pathway to bipolar disorder and its executive function deficit in the Chinese Han population.
  7. Hypomethylation of the GABRP promoter is associated with aggressive phenotype of ovarian cancer.
    Title: Aberrant epigenetic regulation of GABRP associates with aggressive phenotype of ovarian cancer.
  8. genetic polymorphism is associated with systemic lupus erythematosus in female patients
    Title: The Association of the GABRP Polymorphisms with Systemic Lupus Erythematosus.
  9. data reveal a GABRP-ERK1/2-cytokeratin axis that maintains the migratory phenotype of basal-like breast cancer
    Title: GABA(A) receptor pi (GABRP) stimulates basal-like breast cancer cell migration through activation of extracellular-regulated kinase 1/2 (ERK1/2).
  10. HOXA10 expression leads to production of a less progestin-responsive GABA receptor subtype pi
    Title: HOXA10 regulates endometrial GABAA {pi} receptor expression and membrane translocation.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126386, MGC126387

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GABA-A receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
gamma-aminobutyric acid receptor subunit pi
Names
GABA(A) receptor subunit pi
GABA(A) receptor, pi
GABAAR subunit pi
gamma-aminobutyric acid (GABA) A receptor, pi
gamma-aminobutyric acid type A receptor pi subunit

NCBI Reference Sequences (RefSeq)

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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_001291985.2 → NP_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/TrEMBL
    B4DTP4, E7EWG0
    Related
    ENSP00000430727.1, ENST00000519385.5
    Conserved Domains (2) summary
    pfam02931
    Location:41 → 242
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:249 → 277
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  2. NM_014211.3 → NP_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
    A8KA36, D3DQL2, O00591, Q32MJ1
    Related
    ENSP00000265294.4, ENST00000265294.9
    Conserved Domains (1) summary
    cl27321
    Location:43 → 437
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    170782720..170814047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446012.2 → XP_024301780.1  gamma-aminobutyric acid receptor subunit pi isoform X1

    UniProtKB/Swiss-Prot
    A8KA36, D3DQL2, O00591, Q32MJ1
    Related
    ENSP00000430100.1, ENST00000518525.5
    Conserved Domains (1) summary
    cl27321
    Location:43 → 437
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

  2. XM_005265872.2 → XP_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:1 → 163
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:170 → 250
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    171322360..171353718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352314.1 → XP_054208289.1  gamma-aminobutyric acid receptor subunit pi isoform X1

    UniProtKB/Swiss-Prot
    A8KA36, D3DQL2, O00591, Q32MJ1

  2. XM_054352319.1 → XP_054208294.1  gamma-aminobutyric acid receptor subunit pi isoform X3

    UniProtKB/TrEMBL
    E7EWG0

  3. XM_054352317.1 → XP_054208292.1  gamma-aminobutyric acid receptor subunit pi isoform X1

    UniProtKB/Swiss-Prot
    A8KA36, D3DQL2, O00591, Q32MJ1

  4. XM_054352315.1 → XP_054208290.1  gamma-aminobutyric acid receptor subunit pi isoform X1

    UniProtKB/Swiss-Prot
    A8KA36, D3DQL2, O00591, Q32MJ1

  5. XM_054352316.1 → XP_054208291.1  gamma-aminobutyric acid receptor subunit pi isoform X1

    UniProtKB/Swiss-Prot
    A8KA36, D3DQL2, O00591, Q32MJ1

  6. XM_054352318.1 → XP_054208293.1  gamma-aminobutyric acid receptor subunit pi isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00591.1 GenPept UniProtKB/Swiss-Prot:O00591

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