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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
    mouse all
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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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    Related articles in PubMed

    1. GABRP Promotes the Metastasis of Pancreatic Cancer by Activation of the MEK/ERK Signaling Pathway. Meng Y, et al. Biochem Genet, 2024 Feb. PMID 37326897
    2. The Emerging Roles of π Subunit-Containing GABA(A) Receptors in Different Cancers. Juvale IIA, et al. Int J Med Sci, 2021. PMID 34790061, Free PMC Article
    3. An update on GABAA receptors. Mehta AK, et al. Brain Res Brain Res Rev, 1999 Apr. PMID 10209232
    4. Identification of amino acid residues within GABA(A) receptor beta subunits that mediate both homomeric and heteromeric receptor expression. Taylor PM, et al. J Neurosci, 1999 Aug 1. PMID 10414965, Free PMC Article
    5. Systematic characterisation of GABRP expression in sporadic breast cancer and normal breast tissue. Zafrakas M, et al. Int J Cancer, 2006 Mar 15. PMID 16187283

    See all (29) citations in PubMed

    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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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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