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    GABARAPL1 GABA type A receptor associated protein like 1 [ Homo sapiens (human) ]

    Gene ID: 23710, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GABARAPL1provided by HGNC
    Official Full Name
    GABA type A receptor associated protein like 1provided by HGNC
    Primary source
    HGNC:HGNC:4068
    See related
    Ensembl:ENSG00000139112 MIM:607420; AllianceGenome:HGNC:4068
    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; GEC1; APG8L; ATG8B; ATG8L; APG8-LIKE
    Summary
    Enables Tat protein binding activity; phospholipid binding activity; and ubiquitin protein ligase binding activity. Predicted to be involved in autophagy of mitochondrion; cellular response to nitrogen starvation; and macroautophagy. Located in autophagosome and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 136.2), kidney (RPKM 101.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GABARAPL1 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10212877..10223128)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10099612..10109862)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10365476..10375727)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369655 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:10286337-10287157 Neighboring gene C-type lectin domain containing 7A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:10305885-10306388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5959 Neighboring gene MPRA-validated peak1568 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:10331989-10333188 Neighboring gene oxidized low density lipoprotein receptor 1 Neighboring gene transmembrane protein 52B Neighboring gene MPRA-validated peak1569 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4236 Neighboring gene GABARAPL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:10364713-10365255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4237 Neighboring gene killer cell lectin like receptor D1 Neighboring gene uncharacterized LOC124902875 Neighboring gene uncharacterized LOC105369656

    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 role of GABARAPL1/GEC1 in autophagic flux and mitochondrial quality control in MDA-MB-436 breast cancer cells. Boyer-Guittaut M, et al. Autophagy, 2014 Jun. PMID 24879149, Free PMC Article
    2. Low expression of GABARAPL1 is associated with a poor outcome for patients with hepatocellular carcinoma. Liu C, et al. Oncol Rep, 2014 May. PMID 24647565
    3. High expression of gabarapl1 is associated with a better outcome for patients with lymph node-positive breast cancer. Berthier A, et al. Br J Cancer, 2010 Mar 16. PMID 20197771, Free PMC Article
    4. GABARAPL1 (GEC1) associates with autophagic vesicles. Chakrama FZ, et al. Autophagy, 2010 May. PMID 20404487
    5. Loss of GABARAPL1 confers ferroptosis resistance to cancer stem-like cells in hepatocellular carcinoma. Du X, et al. Mol Oncol, 2022 Oct. PMID 36062307, Free PMC Article

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The transcription factor NRF1 (NFE2L1) activates aggrephagy by inducing p62 and GABARAPL1 after proteasome inhibition to maintain proteostasis.
      Title: The transcription factor NRF1 (NFE2L1) activates aggrephagy by inducing p62 and GABARAPL1 after proteasome inhibition to maintain proteostasis.
    2. 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.
    3. ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain dopaminergic neuronal resilience.
      Title: ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain dopaminergic neuronal resilience.
    4. Loss of GABARAPL1 confers ferroptosis resistance to cancer stem-like cells in hepatocellular carcinoma.
      Title: Loss of GABARAPL1 confers ferroptosis resistance to cancer stem-like cells in hepatocellular carcinoma.
    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. 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.
    8. PIK3C3, BECN1 and ATG14 contain functional LIR motifs and interact with the Atg8-family proteins with a preference for GABARAP and GABARAPL1.
      Title: Members of the autophagy class III phosphatidylinositol 3-kinase complex I interact with GABARAP and GABARAPL1 via LIR motifs.
    9. Knockdown of p62 or GABARAPL1 reduced cell survival upon proteasome inhibition.
      Title: Rapid induction of p62 and GABARAPL1 upon proteasome inhibition promotes survival before autophagy activation.
    10. GABARAPs are identified as the first known direct interaction partners of Nef that are essential for its plasma membrane localization.
      Title: Direct binding to GABARAP family members is essential for HIV-1 Nef plasma membrane localization.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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

    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 GABA receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables Tat protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables beta-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylethanolamine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid 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 glycophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus 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 TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with mitochondrion IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    gamma-aminobutyric acid receptor-associated protein-like 1
    Names
    GABA(A) receptor-associated protein-like 1
    early estrogen-regulated protein
    glandular epithelial cell protein 1

    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_001363598.2 → NP_001350527.1  gamma-aminobutyric acid receptor-associated protein-like 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC115676, DC365706
      Consensus CDS
      CCDS86280.1
      Related
      ENSP00000411256.2, ENST00000421801.6
      Conserved Domains (1) summary
      cl28922
      Location:5 → 96
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    2. NM_031412.4 → NP_113600.1  gamma-aminobutyric acid receptor-associated protein-like 1 isoform 2

      See identical proteins and their annotated locations for NP_113600.1

      Status: VALIDATED

      Source sequence(s)
      AC115676, BC028315
      Consensus CDS
      CCDS8620.1
      UniProtKB/Swiss-Prot
      B4E0Y7, Q6FIE6, Q9H0R8
      UniProtKB/TrEMBL
      B2RD60
      Related
      ENSP00000266458.5, ENST00000266458.10
      Conserved Domains (1) summary
      cd16127
      Location:5 → 111
      Ubl_ATG8_GABARAP_like; ubiquitin-like (Ubl) domain found in gamma-aminobutyric acid receptor-associated protein (GABARAP) and similar proteins; sub-family of the autophagy-related 8 (ATG8) protein family

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      10212877..10223128
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      10099612..10109862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0R8.1 GenPept UniProtKB/Swiss-Prot:Q9H0R8

    Gene LinkOut

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

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