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GABARAPL1 (GABA type A receptor associated protein like 1)

Identity

Alias_namesGABA(A) receptor-associated protein like 1
Alias_symbol (synonym)gec1
APG8L
ATG8L
ATG8B
Other aliasAPG8-LIKE
ATG8
GEC1
HGNC (Hugo) GABARAPL1
LocusID (NCBI) 23710
Atlas_Id 51482
Location 12p13.2  [Link to chromosome band 12p13]
Location_base_pair Starts at 10365489 and ends at 10375724 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DTNA (18q12.1) / GABARAPL1 (12p13.2)GABARAPL1 (12p13.2) / GIGYF2 (2q37.1)LDB3 (10q23.2) / GABARAPL1 (12p13.2)
NPIPB7 (16q23.1) / GABARAPL1 (12p13.2)RPS16 (19q13.2) / GABARAPL1 (12p13.2)RREB1 (6p24.3) / GABARAPL1 (12p13.2)
RREB1 6p24.3 / GABARAPL1 12p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;5)(p23;q35) SQSTM1/ALK


External links

Nomenclature
HGNC (Hugo)GABARAPL1   4068
Cards
Entrez_Gene (NCBI)GABARAPL1  23710  GABA type A receptor associated protein like 1
AliasesAPG8-LIKE; APG8L; ATG8; ATG8B; 
ATG8L; GEC1
GeneCards (Weizmann)GABARAPL1
Ensembl hg19 (Hinxton)ENSG00000139112 [Gene_View]  chr12:10365489-10375724 [Contig_View]  GABARAPL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139112 [Gene_View]  chr12:10365489-10375724 [Contig_View]  GABARAPL1 [Vega]
ICGC DataPortalENSG00000139112
TCGA cBioPortalGABARAPL1
AceView (NCBI)GABARAPL1
Genatlas (Paris)GABARAPL1
WikiGenes23710
SOURCE (Princeton)GABARAPL1
Genetics Home Reference (NIH)GABARAPL1
Genomic and cartography
GoldenPath hg19 (UCSC)GABARAPL1  -     chr12:10365489-10375724 +  12p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GABARAPL1  -     12p13.2   [Description]    (hg38-Dec_2013)
EnsemblGABARAPL1 - 12p13.2 [CytoView hg19]  GABARAPL1 - 12p13.2 [CytoView hg38]
Mapping of homologs : NCBIGABARAPL1 [Mapview hg19]  GABARAPL1 [Mapview hg38]
OMIM607420   
Gene and transcription
Genbank (Entrez)AF087847 AF287012 AK056846 AK074195 AK092075
RefSeq transcript (Entrez)NM_031412
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)GABARAPL1
Cluster EST : UnigeneHs.524250 [ NCBI ]
CGAP (NCI)Hs.524250
Alternative Splicing GalleryENSG00000139112
Gene ExpressionGABARAPL1 [ NCBI-GEO ]   GABARAPL1 [ EBI - ARRAY_EXPRESS ]   GABARAPL1 [ SEEK ]   GABARAPL1 [ MEM ]
Gene Expression Viewer (FireBrowse)GABARAPL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23710
GTEX Portal (Tissue expression)GABARAPL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0R8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0R8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0R8
Splice isoforms : SwissVarQ9H0R8
PhosPhoSitePlusQ9H0R8
Domains : Interpro (EBI)Atg8-like    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)Atg8 (PF02991)   
Domain families : Pfam (NCBI)pfam02991   
Conserved Domain (NCBI)GABARAPL1
DMDM Disease mutations23710
Blocks (Seattle)GABARAPL1
PDB (SRS)2L8J    2R2Q   
PDB (PDBSum)2L8J    2R2Q   
PDB (IMB)2L8J    2R2Q   
PDB (RSDB)2L8J    2R2Q   
Structural Biology KnowledgeBase2L8J    2R2Q   
SCOP (Structural Classification of Proteins)2L8J    2R2Q   
CATH (Classification of proteins structures)2L8J    2R2Q   
SuperfamilyQ9H0R8
Human Protein AtlasENSG00000139112
Peptide AtlasQ9H0R8
HPRD07601
IPIIPI00027733   IPI00745475   IPI00792211   IPI01012105   IPI00910716   IPI01014519   IPI01012572   IPI01015784   IPI01012940   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0R8
IntAct (EBI)Q9H0R8
FunCoupENSG00000139112
BioGRIDGABARAPL1
STRING (EMBL)GABARAPL1
ZODIACGABARAPL1
Ontologies - Pathways
QuickGOQ9H0R8
Ontology : AmiGOautophagosome assembly  autophagosome membrane  autophagosome membrane  mitophagy  protein binding  intracellular  mitochondrion  autophagosome  endoplasmic reticulum  Golgi apparatus  cytosol  cytosol  microtubule  cellular response to nitrogen starvation  macroautophagy  cytoplasmic vesicle membrane  Tat protein binding  ubiquitin protein ligase binding  dendrite membrane  dendrite cytoplasm  cell body  beta-tubulin binding  GABA receptor binding  
Ontology : EGO-EBIautophagosome assembly  autophagosome membrane  autophagosome membrane  mitophagy  protein binding  intracellular  mitochondrion  autophagosome  endoplasmic reticulum  Golgi apparatus  cytosol  cytosol  microtubule  cellular response to nitrogen starvation  macroautophagy  cytoplasmic vesicle membrane  Tat protein binding  ubiquitin protein ligase binding  dendrite membrane  dendrite cytoplasm  cell body  beta-tubulin binding  GABA receptor binding  
Pathways : KEGGFoxO signaling pathway    Regulation of autophagy    GABAergic synapse   
NDEx NetworkGABARAPL1
Atlas of Cancer Signalling NetworkGABARAPL1
Wikipedia pathwaysGABARAPL1
Orthology - Evolution
OrthoDB23710
GeneTree (enSembl)ENSG00000139112
Phylogenetic Trees/Animal Genes : TreeFamGABARAPL1
HOVERGENQ9H0R8
HOGENOMQ9H0R8
Homologs : HomoloGeneGABARAPL1
Homology/Alignments : Family Browser (UCSC)GABARAPL1
Gene fusions - Rearrangements
Fusion : MitelmanRREB1/GABARAPL1 [6p24.3/12p13.2]  [t(6;12)(p24;p13)]  
Fusion: TCGARREB1 6p24.3 GABARAPL1 12p13.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABARAPL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABARAPL1
dbVarGABARAPL1
ClinVarGABARAPL1
1000_GenomesGABARAPL1 
Exome Variant ServerGABARAPL1
ExAC (Exome Aggregation Consortium)GABARAPL1 (select the gene name)
Genetic variants : HAPMAP23710
Genomic Variants (DGV)GABARAPL1 [DGVbeta]
DECIPHER (Syndromes)12:10365489-10375724  ENSG00000139112
CONAN: Copy Number AnalysisGABARAPL1 
Mutations
ICGC Data PortalGABARAPL1 
TCGA Data PortalGABARAPL1 
Broad Tumor PortalGABARAPL1
OASIS PortalGABARAPL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABARAPL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABARAPL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GABARAPL1
DgiDB (Drug Gene Interaction Database)GABARAPL1
DoCM (Curated mutations)GABARAPL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABARAPL1 (select a term)
intoGenGABARAPL1
Cancer3DGABARAPL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607420   
Orphanet
MedgenGABARAPL1
Genetic Testing Registry GABARAPL1
NextProtQ9H0R8 [Medical]
TSGene23710
GENETestsGABARAPL1
Huge Navigator GABARAPL1 [HugePedia]
snp3D : Map Gene to Disease23710
BioCentury BCIQGABARAPL1
ClinGenGABARAPL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23710
Chemical/Pharm GKB GenePA28481
Clinical trialGABARAPL1
Miscellaneous
canSAR (ICR)GABARAPL1 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABARAPL1
EVEXGABARAPL1
GoPubMedGABARAPL1
iHOPGABARAPL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:01:53 CEST 2017

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