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    GABARAPL2 GABA type A receptor associated protein like 2 [ Homo sapiens (human) ]

    Gene ID: 11345, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GABARAPL2provided by HGNC
    Official Full Name
    GABA type A receptor associated protein like 2provided by HGNC
    Primary source
    HGNC:HGNC:13291
    See related
    Ensembl:ENSG00000034713 MIM:607452; AllianceGenome:HGNC:13291
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATG8; GEF2; ATG8C; GEF-2; GATE16; GATE-16
    Summary
    Enables phosphatidylethanolamine binding activity and ubiquitin protein ligase binding activity. Involved in negative regulation of proteasomal protein catabolic process and protein localization to endoplasmic reticulum. Located in Golgi membrane and autophagosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 110.1), heart (RPKM 86.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GABARAPL2 in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75566379..75577881)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81614626..81626171)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75600277..75611779)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene carbohydrate sulfotransferase 5 Neighboring gene transmembrane protein 231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11138 Neighboring gene Sharpr-MPRA regulatory region 12601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75600739-75601492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11142 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75626991-75627988 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75627989-75628985 Neighboring gene adenosine deaminase tRNA specific 1 Neighboring gene Sharpr-MPRA regulatory region 14871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75655412-75655932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75655933-75656452 Neighboring gene H3K27ac hESC enhancers GRCh37_chr16:75656453-75656972 and GRCh37_chr16:75656973-75657492 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 Neighboring gene lysyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11144

    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. ATG8 proteins are co-factors for human dopaminergic neuronal transcriptional control: implications for neuronal resilience in Parkinson disease. Jiménez-Moreno N, et al. Autophagy, 2024 Apr. PMID 37312406, Free PMC Article
    2. Conformational Polymorphism in Autophagy-Related Protein GATE-16. Ma P, et al. Biochemistry, 2015 Sep 8. PMID 26284781
    3. In vitro assays of lipidation of Mammalian Atg8 homologs. Tanida I, et al. Curr Protoc Cell Biol, 2014 Sep 2. PMID 25181299
    4. Genetic variants in autophagy associated genes are associated with DNA damage levels in Chinese population. Li Z, et al. Gene, 2017 Aug 30. PMID 28512061
    5. Inhibition of GATE-16 attenuates ATRA-induced neutrophil differentiation of APL cells and interferes with autophagosome formation. Brigger D, et al. Biochem Biophys Res Commun, 2013 Aug 23. PMID 23891751, Free PMC Article

    See all (145) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ATG8 proteins are co-factors for human dopaminergic neuronal transcriptional control: implications for neuronal resilience in Parkinson disease.
      Title: ATG8 proteins are co-factors for human dopaminergic neuronal transcriptional control: implications for neuronal resilience in Parkinson disease.
    2. An ALS-associated variant of the autophagy receptor SQSTM1/p62 reprograms binding selectivity toward the autophagy-related hATG8 proteins.
      Title: An ALS-associated variant of the autophagy receptor SQSTM1/p62 reprograms binding selectivity toward the autophagy-related hATG8 proteins.
    3. The V-ATPase complex regulates non-canonical Atg8-family protein lipidation through ATG16L1 recruitment.
      Title: The V-ATPase complex regulates non-canonical Atg8-family protein lipidation through ATG16L1 recruitment.
    4. Phosphorylation of the LIR Domain of SCOC Modulates ATG8 Binding Affinity and Specificity.
      Title: Phosphorylation of the LIR Domain of SCOC Modulates ATG8 Binding Affinity and Specificity.
    5. Non-canonical autophagy drives alternative ATG8 conjugation to phosphatidylserine.
      Title: Non-canonical autophagy drives alternative ATG8 conjugation to phosphatidylserine.
    6. Autophagic Network Analysis of the Dual Effect of Sevoflurane on Neurons Associated with GABARAPL1 and 2.
      Title: Autophagic Network Analysis of the Dual Effect of Sevoflurane on Neurons Associated with GABARAPL1 and 2.
    7. A PI3K-WIPI2 positive feedback loop allosterically activates LC3 lipidation in autophagy.
      Title: A PI3K-WIPI2 positive feedback loop allosterically activates LC3 lipidation in autophagy.
    8. Lack of GABARAP-Type Proteins Is Accompanied by Altered Golgi Morphology and Surfaceome Composition.
      Title: Lack of GABARAP-Type Proteins Is Accompanied by Altered Golgi Morphology and Surfaceome Composition.
    9. Curvature-sensitive trans-assembly of human Atg8-family proteins in autophagy-related membrane tethering.
      Title: Curvature-sensitive trans-assembly of human Atg8-family proteins in autophagy-related membrane tethering.
    10. An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5.
      Title: An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    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 study identifies multiple susceptibility loci for pancreatic cancer.
    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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of GABA(A) receptor-associated protein-like 2 (GABARAPL2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag and Gag-derived proteins colocalize and interact with the autophagy factor LC3 (ATG8), and autophagy factor LC3 (ATG8) promotes productive Gag processing 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables GABA receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables GABA receptor binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables SNARE binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables beta-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables microtubule binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 autophagy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to nitrogen starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intra-Golgi vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in mitophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ATP-dependent activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein localization to endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gamma-aminobutyric acid receptor-associated protein-like 2
    Names
    GABA(A) receptor-associated protein-like 2
    MAP1 light chain 3 related protein
    ganglioside expression factor 2
    general protein transport factor p16
    golgi-associated ATPase enhancer of 16 kDa

    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.

    mRNA and Protein(s)

    1. NM_007285.7 → NP_009216.1  gamma-aminobutyric acid receptor-associated protein-like 2

      See identical proteins and their annotated locations for NP_009216.1

      Status: VALIDATED

      Source sequence(s)
      AB030710
      Consensus CDS
      CCDS10921.1
      UniProtKB/Swiss-Prot
      O08765, P60520, Q6FG91, Q9DCP8, Q9UQF7
      Related
      ENSP00000037243.2, ENST00000037243.7
      Conserved Domains (1) summary
      cd17163
      Location:5 → 116
      Ubl_ATG8_GABARAPL2; ubiquitin-like (Ubl) domain found in GABA type A receptor associated protein like 2 (GABARAPL2, also known as GATE16)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      75566379..75577881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      81614626..81626171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60520.1 GenPept UniProtKB/Swiss-Prot:P60520

    Gene LinkOut

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

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