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Aliases for ATG5 Gene

Aliases for ATG5 Gene

  • Autophagy Related 5 2 3 5
  • Apoptosis-Specific Protein 3 4
  • APG5-LIKE 3 4
  • APG5L 3 4
  • ASP 3 4
  • ATG5 Autophagy Related 5 Homolog (S. Cerevisiae) 2
  • APG5 (Autophagy 5, S. Cerevisiae)-Like 2
  • APG5 Autophagy 5-Like (S. Cerevisiae) 2
  • ATG5 Autophagy Related 5 Homolog 3
  • APG5 Autophagy 5-Like 3
  • Autophagy Protein 5 3
  • HAPG5 3
  • APG5 3

External Ids for ATG5 Gene

Previous HGNC Symbols for ATG5 Gene

  • APG5L

Previous GeneCards Identifiers for ATG5 Gene

  • GC06M106740
  • GC06M106632
  • GC06M104079
  • GC06M106184

Summaries for ATG5 Gene

Entrez Gene Summary for ATG5 Gene

  • The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

GeneCards Summary for ATG5 Gene

ATG5 (Autophagy Related 5) is a Protein Coding gene. Diseases associated with ATG5 include Spinocerebellar Ataxia 14 and Bardet-Biedl Syndrome 4. Among its related pathways are Autophagy Pathway and Innate Immune System. GO annotations related to this gene include Atg8 ligase activity.

UniProtKB/Swiss-Prot for ATG5 Gene

  • Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. The ATG12-ATG5 conjugate also negatively regulates the innate antiviral immune response by blocking the type I IFN production pathway through direct association with RARRES3 and MAVS. Also plays a role in translation or delivery of incoming viral RNA to the translation apparatus. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.

  • May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.

Gene Wiki entry for ATG5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATG5 Gene

Genomics for ATG5 Gene

Regulatory Elements for ATG5 Gene

Enhancers for ATG5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G106093 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +231.6 231623 1.7 GATAD2A HMG20B TEAD1 CEBPG ZNF644 PPARG YY1 TEAD3 NFIL3 HNF4A PRDM1 ATG5 RNU6-344P ENSG00000269919
GH06G106141 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +183.3 183328 2.5 BCOR USF1 TBL1XR1 ZMYM3 ZIC2 RELA ARID3A POLR2A RELB IKZF2 PRDM1 ATG5 ENSG00000269919 PIR35075
GH06G106509 1.5 Ensembl ENCODE dbSUPER 10.6 -187.5 -187524 7.7 PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SOBP CRYBG1 ATG5 BEND3 QRSL1 LOC101927405 GC06P106528
GH06G106158 1 ENCODE dbSUPER 9.9 +166.2 166225 1.9 ZNF263 CTCF ARNT ZNF10 TRIM22 REST MNT RAD21 JUND ZNF766 PRDM1 ATG5 ENSG00000269919 PIR35075
GH06G106144 0.8 dbSUPER 10.2 +179.0 179016 4.4 HDAC1 PKNOX1 GATA2 RELB IKZF2 CEBPB JUNB TBX21 MAFF SMARCA4 PRDM1 ATG5 ENSG00000269919 PIR35075
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATG5 on UCSC Golden Path with GeneCards custom track

Promoters for ATG5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200612 320 1800 HDGF HNRNPUL1 CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Location for ATG5 Gene

Chromosome:
6
Start:
106,045,423 bp from pter
End:
106,325,820 bp from pter
Size:
280,398 bases
Orientation:
Minus strand

Genomic View for ATG5 Gene

Genes around ATG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATG5 Gene

Proteins for ATG5 Gene

  • Protein details for ATG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1Y0-ATG5_HUMAN
    Recommended name:
    Autophagy protein 5
    Protein Accession:
    Q9H1Y0
    Secondary Accessions:
    • O60875
    • Q5JVR2
    • Q68DI4
    • Q9H2B8
    • Q9HCZ7

    Protein attributes for ATG5 Gene

    Size:
    275 amino acids
    Molecular mass:
    32447 Da
    Quaternary structure:
    • Forms a conjugate with ATG12. The ATG5-ATG12 conjugate forms a complex with several units of ATG16L. Interacts with TECPR1; the interaction is direct and does not take place when ATG16L is associated with the ATG5-ATG12 conjugate. ATG12-ATG5 interacts with MAVS, MGA and RARRES3. Interacts with ATG3, ATG7 and ATG10. Interacts with FADD. Interacts transiently interacts with hepatitis C virus (HCV) protein NS5B during HCV infection.

    Three dimensional structures from OCA and Proteopedia for ATG5 Gene

    Alternative splice isoforms for ATG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATG5 Gene

Post-translational modifications for ATG5 Gene

  • Acetylated by EP300.
  • Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATG5 (ATG5)

No data available for DME Specific Peptides for ATG5 Gene

Domains & Families for ATG5 Gene

Gene Families for ATG5 Gene

Protein Domains for ATG5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ATG5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1Y0

UniProtKB/Swiss-Prot:

ATG5_HUMAN :
  • Belongs to the ATG5 family.
Family:
  • Belongs to the ATG5 family.
genes like me logo Genes that share domains with ATG5: view

Function for ATG5 Gene

Molecular function for ATG5 Gene

UniProtKB/Swiss-Prot Function:
Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. The ATG12-ATG5 conjugate also negatively regulates the innate antiviral immune response by blocking the type I IFN production pathway through direct association with RARRES3 and MAVS. Also plays a role in translation or delivery of incoming viral RNA to the translation apparatus. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
UniProtKB/Swiss-Prot Function:
May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
UniProtKB/Swiss-Prot Induction:
By apoptotic stimuli.

Gene Ontology (GO) - Molecular Function for ATG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9852036
GO:0019776 contributes_to Atg8 ligase activity IBA --
genes like me logo Genes that share ontologies with ATG5: view
genes like me logo Genes that share phenotypes with ATG5: view

Animal Models for ATG5 Gene

MGI Knock Outs for ATG5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATG5
  • Applied Biological Materials Clones for ATG5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATG5 Gene

Localization for ATG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATG5 Gene

Cytoplasm. Preautophagosomal structure membrane; Peripheral membrane protein. Note=Colocalizes with nonmuscle actin. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed (By similarity). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATG5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 3
lysosome 3
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
endosome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ATG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IEA --
GO:0005776 autophagosome IDA 15292400
GO:0005829 cytosol TAS --
GO:0005930 axoneme ISS --
GO:0016020 membrane IDA,IEA 23093945
genes like me logo Genes that share ontologies with ATG5: view

Pathways & Interactions for ATG5 Gene

genes like me logo Genes that share pathways with ATG5: view

SIGNOR curated interactions for ATG5 Gene

Activates:

Gene Ontology (GO) - Biological Process for ATG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly ISS --
GO:0000422 mitophagy IBA --
GO:0001974 blood vessel remodeling IEA --
GO:0002376 immune system process IEA --
GO:0002739 regulation of cytokine secretion involved in immune response IEA --
genes like me logo Genes that share ontologies with ATG5: view

Drugs & Compounds for ATG5 Gene

(3) Drugs for ATG5 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 494

(1) Additional Compounds for ATG5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATG5: view

Transcripts for ATG5 Gene

Unigene Clusters for ATG5 Gene

Autophagy related 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATG5
  • Applied Biological Materials Clones for ATG5

Alternative Splicing Database (ASD) splice patterns (SP) for ATG5 Gene

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

Relevant External Links for ATG5 Gene

GeneLoc Exon Structure for
ATG5
ECgene alternative splicing isoforms for
ATG5

Expression for ATG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATG5 Gene

Protein differential expression in normal tissues from HIPED for ATG5 Gene

This gene is overexpressed in Stomach (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATG5 Gene



Protein tissue co-expression partners for ATG5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATG5 Gene:

ATG5

SOURCE GeneReport for Unigene cluster for ATG5 Gene:

Hs.486063

mRNA Expression by UniProt/SwissProt for ATG5 Gene:

Q9H1Y0-ATG5_HUMAN
Tissue specificity: Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the protein is dramatically highly expressed in apoptotic cells.

Evidence on tissue expression from TISSUES for ATG5 Gene

  • Nervous system(4.6)
  • Liver(2.4)
  • Lung(2.4)
  • Heart(2.3)
  • Muscle(2.3)
  • Blood(2.2)
  • Intestine(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ATG5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG5 Gene

Orthologs for ATG5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATG5 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia ATG5 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATG5 34 35
  • 95.64 (n)
cow
(Bos Taurus)
Mammalia ATG5 34 35
  • 95.27 (n)
mouse
(Mus musculus)
Mammalia Atg5 34 16 35
  • 91.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATG5 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATG5 34 35
  • 84.73 (n)
lizard
(Anolis carolinensis)
Reptilia ATG5 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atg5 34
  • 78.64 (n)
Str.17181 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23730 34
zebrafish
(Danio rerio)
Actinopterygii atg5 34 35
  • 73.87 (n)
Dr.12686 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010939 34
  • 55.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atg5 34 35
  • 54.58 (n)
worm
(Caenorhabditis elegans)
Secernentea atg-5 34 35
  • 49.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATG5 35 37
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons APG5 34
  • 46.92 (n)
rice
(Oryza sativa)
Liliopsida Os02g0117800 34
  • 44.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7077 35
  • 46 (a)
OneToOne
Species where no ortholog for ATG5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATG5 Gene

ENSEMBL:
Gene Tree for ATG5 (if available)
TreeFam:
Gene Tree for ATG5 (if available)

Paralogs for ATG5 Gene

(1) SIMAP similar genes for ATG5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATG5: view

No data available for Paralogs for ATG5 Gene

Variants for ATG5 Gene

Sequence variations from dbSNP and Humsavar for ATG5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_036243 A colorectal cancer sample
rs1000031275 -- 106,211,094(+) TTAAA(A/G)ATGAC intron-variant
rs1000050530 -- 106,224,135(+) AAGGC(A/T)ATTCC intron-variant
rs1000055845 -- 106,259,446(+) AGATA(A/T)CTGAA intron-variant
rs1000092719 -- 106,231,331(+) TCGCC(A/G)TAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATG5 Gene

Variant ID Type Subtype PubMed ID
dgv391n21 CNV gain 19592680
dgv6134n100 CNV gain 25217958
esv24511 CNV loss 19812545
esv2615044 CNV insertion 19546169
esv26469 CNV gain 19812545
esv2657202 CNV deletion 23128226
esv2677509 CNV deletion 23128226
esv3450548 CNV insertion 20981092
esv3610266 CNV gain 21293372
esv3610267 CNV gain 21293372
esv3610268 CNV gain 21293372
esv3610270 CNV loss 21293372
esv3610271 CNV loss 21293372
esv3610272 CNV gain 21293372
esv3610273 CNV loss 21293372
nsv1025231 CNV gain 25217958
nsv1161442 CNV duplication 26073780

Variation tolerance for ATG5 Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATG5 Gene

Human Gene Mutation Database (HGMD)
ATG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG5 Gene

Disorders for ATG5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATG5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 14
  • spinocerebellar ataxia type 14
bardet-biedl syndrome 4
  • bbs4
- elite association - COSMIC cancer census association via MalaCards
Search ATG5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ATG5

Genetic Association Database (GAD)
ATG5
Human Genome Epidemiology (HuGE) Navigator
ATG5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATG5
genes like me logo Genes that share disorders with ATG5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATG5 Gene

Publications for ATG5 Gene

  1. Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death. (PMID: 15778222) Pyo J.O. … Jung Y.K. (J. Biol. Chem. 2005) 2 3 4 22 64
  2. Homology between a human apoptosis specific protein and the product of APG5, a gene involved in autophagy in yeast. (PMID: 9563500) Hammond E.M. … Grand R.J.A. (FEBS Lett. 1998) 2 3 4 22 64
  3. Regulation of autophagy by the p300 acetyltransferase. (PMID: 19124466) Lee I.H. … Finkel T. (J. Biol. Chem. 2009) 3 4 22 64
  4. Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PMID: 19197948) Kang M.R. … Lee S.H. (J. Pathol. 2009) 3 22 46 64
  5. A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy. (PMID: 9852036) Mizushima N. … Ohsumi Y. (J. Biol. Chem. 1998) 3 4 22 64

Products for ATG5 Gene

  • Addgene plasmids for ATG5

Sources for ATG5 Gene

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