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    GABARAP GABA type A receptor-associated protein [ Homo sapiens (human) ]

    Gene ID: 11337, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GABARAPprovided by HGNC
    Official Full Name
    GABA type A receptor-associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:4067
    See related
    Ensembl:ENSG00000170296 MIM:605125; AllianceGenome:HGNC:4067
    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
    Also known as
    MM46; ATG8A; GABARAP-a
    Summary
    Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 212.0), ovary (RPKM 206.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GABARAP in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7240008..7242449, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7140933..7143371, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7143327..7145768, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA dehydrogenase very long chain Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7128275-7128774 Neighboring gene microRNA 324 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7132793-7133992 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7142377-7143026 Neighboring gene PHD finger protein 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11605 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7144925-7145476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7145477-7146028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8094 Neighboring gene CTD nuclear envelope phosphatase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7154656-7155243 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7155244-7155832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8097 Neighboring gene elongator acetyltransferase complex subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7164637-7165600 Neighboring gene Sharpr-MPRA regulatory region 7888 Neighboring gene claudin 7

    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. The X-ray crystal structure and putative ligand-derived peptide binding properties of gamma-aminobutyric acid receptor type A receptor-associated protein. Knight D, et al. J Biol Chem, 2002 Feb 15. PMID 11729197
    2. Ligand binding mode of GABAA receptor-associated protein. Weiergräber OH, et al. J Mol Biol, 2008 Sep 19. PMID 18638487
    3. Sustained structural change of GABA(A) receptor-associated protein underlies long-term potentiation at inhibitory synapses on a cerebellar Purkinje neuron. Kawaguchi SY, et al. J Neurosci, 2007 Jun 20. PMID 17581966, Free PMC Article
    4. Characterization of {gamma}-aminobutyric acid type A receptor-associated protein, a novel tumor suppressor, showing reduced expression in breast cancer. Klebig C, et al. Cancer Res, 2005 Jan 15. PMID 15695379
    5. [The analysis of protein-protein interaction with special reference to PRIP-1]. Kanematsu T, et al. Nihon Yakurigaku Zasshi, 2002 Apr. PMID 11979730

    See all (173) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Microautophagy regulated by STK38 and GABARAPs is essential to repair lysosomes and prevent aging.
      Title: Microautophagy regulated by STK38 and GABARAPs is essential to repair lysosomes and prevent aging.
    2. ATG4B antagonizes antiviral immunity by GABARAP-directed autophagic degradation of TBK1.
      Title: ATG4B antagonizes antiviral immunity by GABARAP-directed autophagic degradation of TBK1.
    3. METTL3 promotes hyperoxia-induced pyroptosis in neonatal bronchopulmonary dysplasia by inhibiting ATG8-mediated autophagy.
      Title: METTL3 promotes hyperoxia-induced pyroptosis in neonatal bronchopulmonary dysplasia by inhibiting ATG8-mediated autophagy.
    4. TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1.
      Title: TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1.
    5. GABARAP suppresses EMT and breast cancer progression via the AKT/mTOR signaling pathway.
      Title: GABARAP suppresses EMT and breast cancer progression via the AKT/mTOR signaling pathway.
    6. Differential expression and prognostic relevance of autophagy-related markers ATG4B, GABARAP, and LC3B in breast cancer.
      Title: Differential expression and prognostic relevance of autophagy-related markers ATG4B, GABARAP, and LC3B in breast cancer.
    7. GABARAPs and LC3s have opposite roles in regulating ULK1 for autophagy induction.
      Title: GABARAPs and LC3s have opposite roles in regulating ULK1 for autophagy induction.
    8. A conserved ATG2-GABARAP family interaction is critical for phagophore formation.
      Title: A conserved ATG2-GABARAP family interaction is critical for phagophore formation.
    9. Ankyrin-G regulates forebrain connectivity and network synchronization via interaction with GABARAP.
      Title: Ankyrin-G regulates forebrain connectivity and network synchronization via interaction with GABARAP.
    10. A Conserved LIR Motif in Connexins Mediates Ubiquitin-Independent Binding to LC3/GABARAP Proteins.
      Title: A Conserved LIR Motif in Connexins Mediates Ubiquitin-Independent Binding to LC3/GABARAP Proteins.
    Submit: New GeneRIF Correction See all GeneRIFs (60)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of GABA(A) receptor-associated protein (GABARAP) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef downregulates the mRNA expression of GABARAP in human mesenchymal stem cells PubMed
    Tat tat HIV-1 Tat activates a CaMKII pathway at inhibitory synapses that leads to structural changes in GABARAP, resulting in increased membrane insertion of the gamma 2 subunit of GABAR 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

    • FLJ25768, MGC120154, MGC120155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GABA receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylethanolamine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylethanolamine binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to nitrogen starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein K48-linked ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein targeting TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Rac protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in autophagosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in autophagosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of microtubule associated complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in smooth endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gamma-aminobutyric acid receptor-associated protein
    Names
    GABA(A) receptor-associated protein
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_007278.2 → NP_009209.1  gamma-aminobutyric acid receptor-associated protein

      See identical proteins and their annotated locations for NP_009209.1

      Status: REVIEWED

      Source sequence(s)
      AC120057, AF067171
      Consensus CDS
      CCDS11092.1
      UniProtKB/Swiss-Prot
      O95166
      UniProtKB/TrEMBL
      B2R5J1, Q6IAW1
      Related
      ENSP00000306866.5, ENST00000302386.10
      Conserved Domains (1) summary
      cd17232
      Location:2 → 116
      Ubl_ATG8_GABARAP; ubiquitin-like (Ubl) domain found in gamma-aminobutyric acid receptor-associated protein (GABARAP)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7240008..7242449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7140933..7143371 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95166.1 GenPept UniProtKB/Swiss-Prot:O95166

    Gene LinkOut

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

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