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GABARAPL1 Gene

protein-coding   GIFtS: 66
GCID: GC12P010365

GABA(A) Receptor-Associated Protein Like 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GABA(A) Receptor-Associated Protein Like 11 2     APG8L2
GEC12 3 5     ATG82
Early Estrogen-Regulated Protein2 3     ATG8B2
Glandular Epithelial Cell Protein 12 3     ATG8L2
GEC-12 3     GABARAPL1-a2
GABA(A) Receptor-Associated Protein-Like 12 3     Gamma-Aminobutyric Acid Receptor-Associated Protein-Like 12
APG8-LIKE2     

External Ids:    HGNC: 40681   Entrez Gene: 237102   Ensembl: ENSG000001391127   OMIM: 6074205   UniProtKB: Q9H0R83   

Export aliases for GABARAPL1 gene to outside databases

Previous GC identifers: GC12P010048 GC12P010488 GC12P010265 GC12P010256 GC12P010108


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GABARAPL1 Gene:
GABARAPL1 (GABA(A) receptor-associated protein like 1) is a protein-coding gene. Diseases associated with GABARAPL1 include spastic hemiplegia, and hemiplegia. GO annotations related to this gene include GABA receptor binding and beta-tubulin binding. An important paralog of this gene is GABARAPL2.

UniProtKB/Swiss-Prot: GBRL1_HUMAN, Q9H0R8
Function: Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through
facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal
vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is
essential for a later stage in autophagosome maturation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABARAPL1 gene promoter:
         Spz1   MAZR   GCNF   HTF   HNF-4alpha2   HNF-4alpha1   RORalpha1   GCNF-1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABARAPL1 promoter sequence
   Search Chromatin IP Primers for GABARAPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABARAPL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.2   Ensembl cytogenetic band:  12p13.2   HGNC cytogenetic band: 12p13.31

GABARAPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABARAPL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P010365:  view genomic region     (about GC identifiers)

Start:
10,365,057 bp from pter      End:
10,375,727 bp from pter
Size:
10,671 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GBRL1_HUMAN, Q9H0R8 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor-associated protein-like 1 precursor  
Size: 117 amino acids; 14044 Da
Subunit: Interacts with GABRG2 and beta-tubulin (By similarity). Interacts with ATG13, OPRK1, RB1CC1 and ULK1.
Interacts with TP53INP1 and TP53INP2. Directly interacts with SQSTM1. Interacts with ATG3, ATG7 and MAP15.
Interacts with TECPR2
2 PDB 3D structures from and Proteopedia for GABARAPL1:
2L8J (3D)        2R2Q (3D)    
Secondary accessions: B4E0Y7 Q6FIE6
Alternative splicing: 2 isoforms:  Q9H0R8-1   Q9H0R8-2   

Explore the universe of human proteins at neXtProt for GABARAPL1: NX_Q9H0R8

Explore proteomics data for GABARAPL1 at MOPED

Post-translational modifications: 

  • The precursor molecule is cleaved by ATG4B to form the cytosolic form, GABARAPL1-I. This is activated by
    APG7L/ATG7, transferred to ATG3 and conjugated to phospholipid to form the membrane-bound form, GABARAPL1-II (By
    similarity). ATG4B also mediates the delipidation required for GABARAPL1 recycling when autophagosomes fuse with
    lysosomes1
  • The Legionella effector RavZ is a deconjugating enzyme that produces an ATG8 product that would be resistant to
    reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine1
  • Ubiquitination2 at Lys24
  • Modification sites at PhosphoSitePlus

  • See GABARAPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_113600.1  
    ENSEMBL proteins: 
     ENSP00000443122   ENSP00000438029   ENSP00000444108   ENSP00000266458   ENSP00000411256  
     ENSP00000439734   ENSP00000441165   ENSP00000446297   ENSP00000445857   ENSP00000443720  
     ENSP00000444055   ENSP00000444186   ENSP00000445709   ENSP00000446456   ENSP00000444738  
     ENSP00000444209   ENSP00000437451  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004241 Atg8_like

    Graphical View of Domain Structure for InterPro Entry Q9H0R8

    ProtoNet protein and cluster: Q9H0R8

    1 Blocks protein domain: IPB004241 Light chain 3 (LC3)

    UniProtKB/Swiss-Prot: GBRL1_HUMAN, Q9H0R8
    Similarity: Belongs to the ATG8 family


    GABARAPL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBRL1_HUMAN, Q9H0R8
    Function: Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through
    facilitating anterograde intracellular trafficking of the receptor. Involved in formation of autophagosomal
    vacuoles. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is
    essential for a later stage in autophagosome maturation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0048487beta-tubulin binding ISS--
    GO:0050811GABA receptor binding ISS--
         
    GABARAPL1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for GABARAPL1:
     Cell division defect  Increased 8N DNA content  Increased number of mitotic ce 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target GABARAPL1:
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    Block miRNA regulation of human, mouse, rat GABARAPL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GABARAPL1 (see all 30):
    hsa-miR-300 hsa-miR-3660 hsa-miR-15a hsa-miR-503 hsa-miR-944 hsa-miR-764 hsa-miR-424 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidGABARAPL1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABARAPL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GBRL1_HUMAN, Q9H0R8: Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Lipid-anchor. Endoplasmic reticulum
    (By similarity). Golgi apparatus (By similarity). Cytoplasmic vesicle, autophagosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    vacuole5
    cytosol3
    endoplasmic reticulum2
    golgi apparatus2
    nucleus2
    plasma membrane2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005737cytoplasm ----
    GO:0005776autophagic vacuole IDA15292400
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    GABARAPL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GABARAPL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    GABAergic synapse0.53
    2Senescence and Autophagy
    Senescence and Autophagy
    3Regulation of autophagy
    Regulation of autophagy
    4FoxO signaling pathway
    FoxO signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GABARAPL1
        Senescence and Autophagy



    3 Kegg Pathways  (Kegg details for GABARAPL1):
        FoxO signaling pathway
    Regulation of autophagy
    GABAergic synapse


    GABARAPL1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GABARAPL1: 
              Autophagy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABARAPL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GABARAPL1 (Q9H0R81, 2, 3 ENSP000002664584) via UniProtKB, MINT, STRING, and/or I2D (see all 681)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly ----
    GO:0006914autophagy IEA--

    GABARAPL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for GABARAPL1 (GBRL1)

    1 HMDB Compound for GABARAPL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GABARAPL1 gene: 
    NM_031412.2  

    Unigene Cluster for GABARAPL1:

    GABA(A) receptor-associated protein like 1
    Hs.524250  [show with all ESTs]
    Unigene Representative Sequence: BX648781
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539408 ENST00000542722 ENST00000545859 ENST00000266458(uc001qxs.3)
    ENST00000421801(uc010shb.1) ENST00000544284 ENST00000545047 ENST00000541453
    ENST00000543602 ENST00000540424(uc001qxt.3) ENST00000537201 ENST00000545887
    ENST00000541960 ENST00000539289 ENST00000546017 ENST00000535576 ENST00000539170
    ENST00000545290
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    hsa-miR-300 hsa-miR-3660 hsa-miR-15a hsa-miR-503 hsa-miR-944 hsa-miR-764 hsa-miR-424 hsa-miR-629*
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      QuantiTect SYBR Green Assays in human, mouse, rat GABARAPL1
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    Additional mRNA sequence: 

    AF087847.1 AF287012.1 AK056846.1 AK074195.1 AK092075.1 AK124150.1 AK303581.1 AK315418.1 
    AL136676.1 BC008891.2 BC009309.2 BC028315.1 BX648781.1 CR533480.1 JN663881.1 

    Selected DOTS entries (see all 31):

    DT.40195388  DT.100879636  DT.100031425  DT.91650894  DT.100879666  DT.101985482  DT.121210432  DT.100879661 
    DT.100879627  DT.121210517  DT.100879644  DT.121210463  DT.100879663  DT.121210477  DT.100684731  DT.121210422 
    DT.121210447  DT.121210469  DT.40204612  DT.92456805  DT.95249234  DT.95362600  DT.100879647  DT.121210431 

    Selected AceView cDNA sequences (see all 579):

    CR623491 BP346505 AI453591 BQ719127 AA682356 CR623363 AA973691 BQ083511 
    BX445004 CR605097 CR622348 BU735070 BP334426 BM843299 AA643354 CR616417 
    AI081102 T35232 CR621758 AA434560 CR626234 AL558269 CA952832 CR593137 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GABARAPL1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d
    SP1:                                            -     -     -     -     -     -     -     -                             -                           
    SP2:                                                                                -                                   -                           
    SP3:                                            -     -     -     -     -     -     -     -                             -                           
    SP4:                                            -     -     -     -     -     -     -                                                               
    SP5:                                                  -     -     -     -     -     -     -                             -                           


    ECgene alternative splicing isoforms for GABARAPL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GABARAPL1 expression in normal human tissues (normalized intensities)      GABARAPL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATTTCAAT
    GABARAPL1 Expression
    About this image


    GABARAPL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    GABARAPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABARAPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524250

    UniProtKB/Swiss-Prot: GBRL1_HUMAN, Q9H0R8
    Tissue specificity: Ubiquitous. Expressed at very high levels in the brain, heart, peripheral blood leukocytes,
    liver, kidney, placenta and skeletal muscle. Expressed at very low levels in thymus and small intestine. In the
    brain, expression is particularly intense in motoneurons in the embryo and in neurons involved in somatomotor and
    neuroendocrine functions in the adult, particularly in the substantia nigra pars compacta

        Pathway & Disease-focused RT2 Profiler PCR Array including GABARAPL1: 
              Autophagy in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABARAPL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GABARAPL1 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabarapl11 , 5 gamma-aminobutyric acid (GABA) A receptor-associated more1, 5 92.88(n)1
    100(a)1
      6 (63.39 cM)5
    574361  NM_020590.41  NP_065615.11 
     1295332005 
    chicken
    (Gallus gallus)
    Aves GABARAPL11 GABA(A) receptor-associated protein like 1 86.32(n)
    100(a)
      769118  XM_001231887.3  XP_001231888.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABARAPL16
    GABA(A) receptor-associated protein like 1
    95(a)
    1 ↔ 1
    2(81871037-81895165)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabarapl11 GABA(A) receptor-associated protein like 1 81.2(n)
    100(a)
      595040  NM_001030481.1  NP_001025652.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7932001 gamma-aminobutyric acid receptor-associated protein-like 76.07(n)
    87.18(a)
      793200  XM_003199019.2  XP_003199067.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG123343
    Atg8a1
    Autophagy-specific gene 8a1 73(a)3
    74.71(n)1
    85.34(a)1
      90C23
    320011  NM_167245.21  NP_727447.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lgg-11 , 3 lgg-11 78(a)3
    71.84(n)1
    78.45(a)1
      II(6346634-6347795)3
    1740501  NM_062876.51  NP_495277.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATG81 ATG8 56.13(n)
    54.7(a)
      852200   NP_009475.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATG8D1 ATG8D 61.36(n)
    56.64(a)
      815112  NM_126586.3  NP_178631.1 
    rice
    (Oryza sativa)
    Liliopsida AK062573.12   -- 76.28(n)    AK062573.1 


    ENSEMBL Gene Tree for GABARAPL1 (if available)
    TreeFam Gene Tree for GABARAPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for GABARAPL1 gene
    GABARAPL22  MAP1LC3B2  MAP1LC3A2  GABARAP2  MAP1LC3C2  GABARAPL32  MAP1LC3B22  
    9 SIMAP similar genes for GABARAPL1 using alignment to 6 protein entries:     GBRL1_HUMAN (see all proteins):
    DKFZp586A1923    GABARAP    GABARAPL3    GABARAPL2    MAP1LC3B2    DKFZp762B153
    MAP1LC3A    MAP1LC3B    MAP1LC3C

    GABARAPL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GABARAPL1 (see all 301)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381302891,2
    --10363507(+) AAAGTC/GCTGGG 1 -- us2k10--------
    rs1496486441,2
    C--10363521(+) ACAGTA/CGTGAG 1 -- us2k10--------
    rs1461498281,2
    --10363533(+) CACTGC/TGCCCG 1 -- us2k10--------
    rs1389921771,2
    --10363535(+) CTGCGA/CCCGGC 1 -- us2k10--------
    rs1116804581,2
    F--10363549(+) ATTTTA/GGTTTT 1 -- us2k12Minor allele frequency- G:0.05CSA WA 120
    rs1823003771,2
    --10363564(+) CAAATA/GTAGTT 1 -- us2k10--------
    rs732627001,2
    C,F--10363587(+) GTTCTC/ACCTTC 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1421565591,2
    --10363624(+) GGCTCC/TCGAGT 1 -- us2k10--------
    rs1161906501,2
    C,F--10363658(+) CACCAG/CGCTCA 1 -- us2k11Minor allele frequency- C:0.06WA 118
    rs1866478791,2
    --10363682(+) GTATTA/GTTAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GABARAPL1 (10365057 - 10375727 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GABARAPL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898757CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABARAPL1
    DNA2.0 Custom Variant and Variant Library Synthesis for GABARAPL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607420    OMIM disorders: --

    9 diseases for GABARAPL1:    About MalaCards
    spastic hemiplegia    hemiplegia    retinitis pigmentosa    spasticity
    pulmonary function    retinitis    ovarian cancer    breast cancer
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for GABARAPL1:
    Spastic hemiplegia

    GABARAPL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABARAPL1
    Human Genome Epidemiology (HuGE) Navigator: GABARAPL1 (1 document)

    Export disorders for GABARAPL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GABARAPL1 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with GABARAPL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel early estrogen-regulated gene gec1 encodes a protein related to GABARAP. (PubMed id 11374880)1, 2, 3, 9 Vernier-Magnin S.... Fraichard A. (Biochem. Biophys. Res. Commun. 2001)
    2. Cloning, expression patterns, and chromosome localization of three human and two mouse homologues of GABA(A) receptor-associated protein. (PubMed id 11414770)1, 2, 3, 9 Xin Y....Zhao S. (Genomics 2001)
    3. ATG8 family proteins act as scaffolds for assembly of the ULK complex: sequence requirements for LC3-interacting region (LIR) motifs. (PubMed id 23043107)1, 2 Alemu E.A.... Johansen T. (J. Biol. Chem. 2012)
    4. MAPK15/ERK8 stimulates autophagy by interacting with LC3 and GABARAP proteins. (PubMed id 22948227)1, 2 Colecchia D.... Chiariello M. (Autophagy 2012)
    5. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    6. Network organization of the human autophagy system. (PubMed id 20562859)1, 2 Behrends C....Harper J.W. (Nature 2010)
    7. GEC1 interacts with the kappa opioid receptor and enhances expression of the receptor. (PubMed id 16431922)1, 2 Chen C.... Liu-Chen L.-Y. (J. Biol. Chem. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23710 HGNC: 4068 AceView: GABARAPL1 Ensembl:ENSG00000139112 euGenes: HUgn23710
    ECgene: GABARAPL1 Kegg: 23710 H-InvDB: GABARAPL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GABARAPL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for GABARAPL1 gene:
    Search GeneIP for patents involving GABARAPL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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