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ATG5 (autophagy related 5)

Identity

Alias_namesAPG5L
APG5 (autophagy 5, S. cerevisiae)-like
APG5 autophagy 5-like (S. cerevisiae)
ATG5 autophagy related 5 homolog (S. cerevisiae)
Alias_symbol (synonym)ASP
APG5
hAPG5
Other aliasAPG5-LIKE
SCAR25
HGNC (Hugo) ATG5
LocusID (NCBI) 9474
Atlas_Id 51040
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 106184477 and ends at 106325820 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATG5 (6q21) / ATG5 (6q21)ATG5 (6q21) / CEACAM16 (19q13.32)ATG5 (6q21) / EIF3E (8q23.1)
ATG5 (6q21) / PDSS2 (6q21)ATG5 (6q21) / QRSL1 (6q21)ATG5 (6q21) / SYNJ2 (6q25.3)
ATG5 (6q21) / TMEM200A (6q23.1)ATG5 (6q21) / UBE2G2 (21q22.3)CCT4 (2p15) / ATG5 (6q21)
GOLGB1 (3q13.33) / ATG5 (6q21)LTV1 (6q24.2) / ATG5 (6q21)PREP (6q21) / ATG5 (6q21)
ATG5 6q21 / CEACAM16 19q13.32ATG5 6q21 / PDSS2 6q21ATG5 6q21 / QRSL1 6q21
ATG5 6q21 / SYNJ2 6q25.3ATG5 6q21 / TMEM200A 6q23.1LTV1 6q24.2 / ATG5 6q21
PREP 6q21 / ATG5 6q21

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 ]
  Aggressive natural killer leukemia (ANKL)


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(6;6)(q21;q23) ATG5/TMEM200A
t(6;6)(q21;q24) LTV1/ATG5
t(6;6)(q21;q25) ATG5/SYNJ2
t(6;8)(q21;q23) ATG5/EIF3E


External links

Nomenclature
HGNC (Hugo)ATG5   589
Cards
Entrez_Gene (NCBI)ATG5  9474  autophagy related 5
AliasesAPG5; APG5-LIKE; APG5L; ASP; 
SCAR25; hAPG5
GeneCards (Weizmann)ATG5
Ensembl hg19 (Hinxton)ENSG00000057663 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000057663 [Gene_View]  ENSG00000057663 [Sequence]  chr6:106184477-106325820 [Contig_View]  ATG5 [Vega]
ICGC DataPortalENSG00000057663
TCGA cBioPortalATG5
AceView (NCBI)ATG5
Genatlas (Paris)ATG5
WikiGenes9474
SOURCE (Princeton)ATG5
Genetics Home Reference (NIH)ATG5
Genomic and cartography
GoldenPath hg38 (UCSC)ATG5  -     chr6:106184477-106325820 -  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATG5  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblATG5 - 6q21 [CytoView hg19]  ATG5 - 6q21 [CytoView hg38]
Mapping of homologs : NCBIATG5 [Mapview hg19]  ATG5 [Mapview hg38]
OMIM604261   617584   
Gene and transcription
Genbank (Entrez)AF293841 AK001899 AK299577 AK315800 BC002699
RefSeq transcript (Entrez)NM_001286106 NM_001286107 NM_001286108 NM_001286111 NM_004849
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATG5
Cluster EST : UnigeneHs.486063 [ NCBI ]
CGAP (NCI)Hs.486063
Alternative Splicing GalleryENSG00000057663
Gene ExpressionATG5 [ NCBI-GEO ]   ATG5 [ EBI - ARRAY_EXPRESS ]   ATG5 [ SEEK ]   ATG5 [ MEM ]
Gene Expression Viewer (FireBrowse)ATG5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9474
GTEX Portal (Tissue expression)ATG5
Human Protein AtlasENSG00000057663-ATG5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H1Y0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H1Y0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H1Y0
Splice isoforms : SwissVarQ9H1Y0
PhosPhoSitePlusQ9H1Y0
Domains : Interpro (EBI)Atg5   
Domain families : Pfam (Sanger)APG5 (PF04106)   
Domain families : Pfam (NCBI)pfam04106   
Conserved Domain (NCBI)ATG5
DMDM Disease mutations9474
Blocks (Seattle)ATG5
PDB (SRS)4GDK    4GDL    4NAW    4TQ0    4TQ1    5D7G   
PDB (PDBSum)4GDK    4GDL    4NAW    4TQ0    4TQ1    5D7G   
PDB (IMB)4GDK    4GDL    4NAW    4TQ0    4TQ1    5D7G   
PDB (RSDB)4GDK    4GDL    4NAW    4TQ0    4TQ1    5D7G   
Structural Biology KnowledgeBase4GDK    4GDL    4NAW    4TQ0    4TQ1    5D7G   
SCOP (Structural Classification of Proteins)4GDK    4GDL    4NAW    4TQ0    4TQ1    5D7G   
CATH (Classification of proteins structures)4GDK    4GDL    4NAW    4TQ0    4TQ1    5D7G   
SuperfamilyQ9H1Y0
Human Protein Atlas [tissue]ENSG00000057663-ATG5 [tissue]
Peptide AtlasQ9H1Y0
HPRD16051
IPIIPI00006800   IPI00220640   IPI00844068   
Protein Interaction databases
DIP (DOE-UCLA)Q9H1Y0
IntAct (EBI)Q9H1Y0
FunCoupENSG00000057663
BioGRIDATG5
STRING (EMBL)ATG5
ZODIACATG5
Ontologies - Pathways
QuickGOQ9H1Y0
Ontology : AmiGOautophagosome assembly  autophagosome assembly  autophagy of mitochondrion  blood vessel remodeling  regulation of cytokine secretion involved in immune response  protein binding  cytoplasm  autophagosome  cytosol  axoneme  C-terminal protein lipidation  autophagy  autophagy  apoptotic process  cellular response to nitrogen starvation  response to fungus  membrane  macroautophagy  cellular homeostasis  Atg8 ligase activity  antigen processing and presentation of endogenous antigen  phagocytic vesicle membrane  negative regulation of protein ubiquitination  phagophore assembly site membrane  phagophore assembly site membrane  Atg12-Atg5-Atg16 complex  aggrephagy  negative stranded viral RNA replication  vasodilation  response to drug  negative regulation of apoptotic process  post-translational protein modification  ER-mitochondrion membrane contact site  autophagy of nucleus  negative thymic T cell selection  otolith development  negative regulation of phagocytosis  regulation of release of sequestered calcium ion into cytosol  ventricular cardiac muscle cell development  heart contraction  negative regulation of cell death  protein lipidation involved in autophagosome assembly  positive regulation of mucus secretion  cellular response to nitrosative stress  autophagy of host cells involved in interaction with symbiont  regulation of cilium assembly  negative regulation of reactive oxygen species metabolic process  negative regulation of histone H4-K16 acetylation  
Ontology : EGO-EBIautophagosome assembly  autophagosome assembly  autophagy of mitochondrion  blood vessel remodeling  regulation of cytokine secretion involved in immune response  protein binding  cytoplasm  autophagosome  cytosol  axoneme  C-terminal protein lipidation  autophagy  autophagy  apoptotic process  cellular response to nitrogen starvation  response to fungus  membrane  macroautophagy  cellular homeostasis  Atg8 ligase activity  antigen processing and presentation of endogenous antigen  phagocytic vesicle membrane  negative regulation of protein ubiquitination  phagophore assembly site membrane  phagophore assembly site membrane  Atg12-Atg5-Atg16 complex  aggrephagy  negative stranded viral RNA replication  vasodilation  response to drug  negative regulation of apoptotic process  post-translational protein modification  ER-mitochondrion membrane contact site  autophagy of nucleus  negative thymic T cell selection  otolith development  negative regulation of phagocytosis  regulation of release of sequestered calcium ion into cytosol  ventricular cardiac muscle cell development  heart contraction  negative regulation of cell death  protein lipidation involved in autophagosome assembly  positive regulation of mucus secretion  cellular response to nitrosative stress  autophagy of host cells involved in interaction with symbiont  regulation of cilium assembly  negative regulation of reactive oxygen species metabolic process  negative regulation of histone H4-K16 acetylation  
Pathways : KEGGRegulation of autophagy   
NDEx NetworkATG5
Atlas of Cancer Signalling NetworkATG5
Wikipedia pathwaysATG5
Orthology - Evolution
OrthoDB9474
GeneTree (enSembl)ENSG00000057663
Phylogenetic Trees/Animal Genes : TreeFamATG5
HOVERGENQ9H1Y0
HOGENOMQ9H1Y0
Homologs : HomoloGeneATG5
Homology/Alignments : Family Browser (UCSC)ATG5
Gene fusions - Rearrangements
Fusion : MitelmanATG5/CEACAM16 [6q21/19q13.32]  
Fusion : MitelmanATG5/SYNJ2 [6q21/6q25.3]  [t(6;6)(q21;q25)]  
Fusion : MitelmanATG5/TMEM200A [6q21/6q23.1]  [t(6;6)(q21;q23)]  
Fusion : MitelmanLTV1/ATG5 [6q24.2/6q21]  [t(6;6)(q21;q24)]  
Fusion PortalATG5 6q21 CEACAM16 19q13.32 LGG
Fusion PortalATG5 6q21 PDSS2 6q21 GBM
Fusion PortalATG5 6q21 QRSL1 6q21 BRCA
Fusion PortalATG5 6q21 SYNJ2 6q25.3 LUSC
Fusion PortalATG5 6q21 TMEM200A 6q23.1 BRCA
Fusion PortalLTV1 6q24.2 ATG5 6q21 BRCA
Fusion PortalPREP 6q21 ATG5 6q21 LUAD
Fusion : QuiverATG5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATG5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATG5
dbVarATG5
ClinVarATG5
1000_GenomesATG5 
Exome Variant ServerATG5
ExAC (Exome Aggregation Consortium)ENSG00000057663
GNOMAD BrowserENSG00000057663
Genetic variants : HAPMAP9474
Genomic Variants (DGV)ATG5 [DGVbeta]
DECIPHERATG5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATG5 
Mutations
ICGC Data PortalATG5 
TCGA Data PortalATG5 
Broad Tumor PortalATG5
OASIS PortalATG5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATG5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATG5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATG5
DgiDB (Drug Gene Interaction Database)ATG5
DoCM (Curated mutations)ATG5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATG5 (select a term)
intoGenATG5
Cancer3DATG5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604261    617584   
Orphanet
DisGeNETATG5
MedgenATG5
Genetic Testing Registry ATG5
NextProtQ9H1Y0 [Medical]
TSGene9474
GENETestsATG5
Target ValidationATG5
Huge Navigator ATG5 [HugePedia]
snp3D : Map Gene to Disease9474
BioCentury BCIQATG5
ClinGenATG5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9474
Chemical/Pharm GKB GenePA24880
Clinical trialATG5
Miscellaneous
canSAR (ICR)ATG5 (select the gene name)
Probes
Litterature
PubMed137 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATG5
EVEXATG5
GoPubMedATG5
iHOPATG5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:15:21 CEST 2018

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