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ATG3 Gene

protein-coding   GIFtS: 57
GCID: GC03M112251

Autophagy Related 3

(Previous names: APG3 autophagy 3-like (S. cerevisiae), ATG3 autophagy related...)
(Previous symbol: APG3L)
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(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
Autophagy Related 31 2     APG3-LIKE2
APG3L1 2 3     PC3-962
Autophagy-Related Protein 32 3     ATG3 Autophagy Related 3 Homolog2
APG32 3     Ubiquitin-Like-Conjugating Enzyme ATG32
hApg32 3     APG3-like3
APG3 Autophagy 3-Like (S. Cerevisiae)1     EC 6.3.2.-3
ATG3 Autophagy Related 3 Homolog (S. Cerevisiae)1     Protein PC3-963
2610016C12Rik2     

External Ids:    HGNC: 209621   Entrez Gene: 644222   Ensembl: ENSG000001448487   OMIM: 6096065   UniProtKB: Q9NT623   

Export aliases for ATG3 gene to outside databases

Previous GC identifers: GC03M113735 GC03M109636


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATG3 Gene:
This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved
in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells.
This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is
located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different
isoforms. (provided by RefSeq, Jul 2013)

GeneCards Summary for ATG3 Gene:
ATG3 (autophagy related 3) is a protein-coding gene. GO annotations related to this gene include Atg12 ligase activity and enzyme binding.

UniProtKB/Swiss-Prot: ATG3_HUMAN, Q9NT62
Function: E2 conjugating enzyme required for the cytoplasm to vacuole transport (Cvt), autophagy, and
mitochondrial homeostasis. Responsible for the E2-like covalent binding of phosphatidylethanolamine to the
C-terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A). The ATG12-ATG5 conjugate plays
a role of an E3 and promotes the transfer of ATG8-like proteins from ATG3 to phosphatidylethanolamine (PE). This
step is required for the membrane association of ATG8-like proteins. The formation of the
ATG8-phosphatidylethanolamine conjugates is essential for autophagy and for the cytoplasm to vacuole transport
(Cvt). Preferred substrate is MAP1LC3A. Also acts as an autocatalytic E2-like enzyme, catalyzing the conjugation
of ATG12 to itself, ATG12 conjugation to ATG3 playing a role in mitochondrial homeostasis but not in autophagy.
ATG7 (E1-like enzyme) facilitates this reaction by forming an E1-E2 complex with ATG3. Promotes primary
ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway




(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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATG3 gene promoter:
         Nkx3-1   Nkx3-1 v1   STAT5A   YY1   Nkx3-1 v2   MEF-2A   FOXO1a   ZID   MRF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATG3 promoter sequence
   Search Chromatin IP Primers for ATG3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATG3


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

Entrez Gene cytogenetic band: 3q13.2   Ensembl cytogenetic band:  3q13.2   HGNC cytogenetic band: 3q13.2

ATG3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATG3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M112251:  view genomic region     (about GC identifiers)

Start:
112,251,356 bp from pter      End:
112,280,893 bp from pter
Size:
29,538 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ATG3_HUMAN, Q9NT62 (See protein sequence)
Recommended Name: Ubiquitin-like-conjugating enzyme ATG3  
Size: 314 amino acids; 35864 Da
Subunit: Interacts with ATG7 and ATG12. The complex, composed of ATG3 and ATG7, plays a role in the conjugation of
ATG12 to ATG5. Interacts with FNBP1L
Sequence caution: Sequence=AAH02830.1; Type=Frameshift; Positions=290; Sequence=BAB15237.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for ATG3:
4NAW (3D)    
Secondary accessions: Q6PKC5 Q9H6L9
Alternative splicing: 2 isoforms:  Q9NT62-1   Q9NT62-2   (No experimental confirmation available. Ref.4 (AAH02830) sequence differs from that shown due to a frameshift in position 311)

Explore the universe of human proteins at neXtProt for ATG3: NX_Q9NT62

Explore proteomics data for ATG3 at MOPED

Post-translational modifications: 

  • Conjugated to ATG12 at Lys-243. ATG12-conjugation plays a role in regulation of mitochondrial homeostasis and cell
    death, while it is not involved in PE-conjugation to ATG8-like proteins and autophagy1
  • Cleaved by CASP8 upon death ligand binding such as tumor necrosis factor-alpha. CASP8 cleavage blocks
    survival-related autophagy and favors apoptosis1
  • Ubiquitination2 at Lys11
  • Modification sites at PhosphoSitePlus

  • See ATG3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265641.1  NP_071933.2  

    ENSEMBL proteins: 
     ENSP00000283290   ENSP00000385943   ENSP00000420259   ENSP00000420378  

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    antibodies-online proteins for ATG3 (19 products) 

     
    antibodies-online peptides for ATG3

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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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    3 InterPro protein domains:
     IPR019461 Autophagy-rel_prot_3_C
     IPR007135 Autophagy-rel_prot_3
     IPR007134 Autophagy-rel_prot_3_N

    Graphical View of Domain Structure for InterPro Entry Q9NT62

    ProtoNet protein and cluster: Q9NT62

    UniProtKB/Swiss-Prot: ATG3_HUMAN, Q9NT62
    Similarity: Belongs to the ATG3 family


    Find genes that share domains with ATG3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATG3_HUMAN, Q9NT62
    Function: E2 conjugating enzyme required for the cytoplasm to vacuole transport (Cvt), autophagy, and
    mitochondrial homeostasis. Responsible for the E2-like covalent binding of phosphatidylethanolamine to the
    C-terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A). The ATG12-ATG5 conjugate plays
    a role of an E3 and promotes the transfer of ATG8-like proteins from ATG3 to phosphatidylethanolamine (PE). This
    step is required for the membrane association of ATG8-like proteins. The formation of the
    ATG8-phosphatidylethanolamine conjugates is essential for autophagy and for the cytoplasm to vacuole transport
    (Cvt). Preferred substrate is MAP1LC3A. Also acts as an autocatalytic E2-like enzyme, catalyzing the conjugation
    of ATG12 to itself, ATG12 conjugation to ATG3 playing a role in mitochondrial homeostasis but not in autophagy.
    ATG7 (E1-like enzyme) facilitates this reaction by forming an E1-E2 complex with ATG3. Promotes primary
    ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11825910
    GO:0019776Atg8 ligase activity ISS--
    GO:0019777Atg12 ligase activity ISS--
    GO:0019787small conjugating protein ligase activity IDA11825910
    GO:0019899enzyme binding IPI11825910
         
    Find genes that share ontologies with ATG3           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atg3):
     cellular  hematopoietic system  immune system 

    Find genes that share phenotypes with ATG3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATG3

    miRNA
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    hsa-mir-155-5p (MIRT001566), hsa-mir-10a-5p (MIRT047709)

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    1 qRT-PCR Assays for microRNA that regulate ATG3:
    hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidATG3 3' UTR sequence
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    (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
    ATG3_HUMAN, Q9NT62: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane3
    vacuole3
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000153cytoplasmic ubiquitin ligase complex IPI11825910
    GO:0005829cytosol IDA11825910

    Find genes that share ontologies with ATG3           About GenesLikeMe


    (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 ATG3 About    
    See pathways by source

    SuperPathContained pathways About
    1Senescence and Autophagy
    Senescence and Autophagy
    2Regulation of autophagy
    Regulation of autophagy


    Find genes that share SuperPaths with ATG3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ATG3
        Senescence and Autophagy



    1 Kegg Pathway  (Kegg details for ATG3):
        Regulation of autophagy

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATG3: 
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATG3

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

    Selected Interacting proteins for ATG3 (Q9NT621, 3 ENSP000002832904) via UniProtKB, MINT, STRING, and/or I2D (see all 249)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly ISS--
    GO:0006464cellular protein modification process IDA11825910
    GO:0006612protein targeting to membrane ISS--
    GO:0006914autophagy ----
    GO:0016567protein ubiquitination IDA11825910

    Find genes that share ontologies with ATG3           About GenesLikeMe



    (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
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for ATG3



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATG3 gene (2 alternative transcripts): 
    NM_001278712.1  NM_022488.4  

    Unigene Cluster for ATG3:

    Autophagy related 3
    Hs.477126  [show with all ESTs]
    Unigene Representative Sequence: BC002830
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283290(uc003dzd.3) ENST00000402314(uc003dzc.3) ENST00000494571
    ENST00000495756(uc010hqe.3) ENST00000467275 ENST00000496423 ENST00000492886
    ENST00000465980 ENST00000488910
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    1 qRT-PCR Assays for microRNA that regulate ATG3:
    hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidATG3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB079384.1 AF202092.1 AK025778.1 AK123511.1 AK307432.1 AK308919.1 AL137515.1 BC002830.1 
    BC024221.2 BC043267.1 

    21 DOTS entries:

    DT.91762273  DT.100790037  DT.91762274  DT.116917  DT.315607  DT.92426391  DT.91762293  DT.100031349 
    DT.91841273  DT.95257119  DT.100790035  DT.91762280  DT.92033201  DT.100790034  DT.100790036  DT.86854393 
    DT.91762281  DT.97846905  DT.120895630  DT.120895670  DT.99996501 

    Selected AceView cDNA sequences (see all 349):

    BQ774064 CR623472 BC024221 AB079384 BG540258 AI242239 AA908387 AA883741 
    BM480249 BP367499 BU688604 CR594782 AI753516 BX363198 W95829 BU687082 
    BM980777 AI739251 BU626468 BM745334 BM793909 CA422470 BM671085 F03691 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATG3    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
    SP1:                                                                                            -         
    SP2:                                                                                                      
    SP3:        -     -                                                                                       
    SP4:                                      -     -                                                         
    SP5:                          -                                                                           


    ECgene alternative splicing isoforms for ATG3

    (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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    ATG3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAGGTGAT
    ATG3 Expression
    About this image


    ATG3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    ATG3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATG3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.477126

    UniProtKB/Swiss-Prot: ATG3_HUMAN, Q9NT62
    Tissue specificity: Widely expressed, with a highest expression in heart, skeletal muscle, kidney, liver and
    placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATG3: 
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG3

    (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 ATG3 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atg31 , 5 autophagy-related 3 (yeast)5
    autophagy related 31
    92.36(n)1
    97.45(a)1
      16 (29.45 cM)5
    678411  NM_026402.31  NP_080678.11 
     451587855 
    chicken
    (Gallus gallus)
    Aves ATG31 autophagy related 3 84.56(n)
    92.65(a)
      418369  NM_001278070.1  NP_001264999.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATG36
    autophagy related 3
    91(a)
    1 ↔ 1
    3(175764454-175786320)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.126292 Xenopus laevis, clone IMAGE5542698, mRNA 80.75(n)    BC045018.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb15g122 wufb15g12 80.41(n)   336632  BC057434.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aut11 Aut1 63.46(n)
    66.67(a)
      40044  NM_140802.3  NP_649059.1 
    worm
    (Caenorhabditis elegans)
    Secernentea atg-31 atg-3 58.11(n)
    55.82(a)
      176921  NM_067623.4  NP_500024.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATG3(YNR007C)4 E2-like enzyme involved in autophagy and the cytoplasm-to-vacuole more   --   14(640114-639182) 855741  NP_014404.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATG31 ATG3 57.61(n)
    49.64(a)
      836271  NM_125543.4  NP_568934.1 
    rice
    (Oryza sativa)
    Liliopsida Os.276652 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.67(n)    AK067737.1 


    ENSEMBL Gene Tree for ATG3 (if available)
    TreeFam Gene Tree for ATG3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATG3 gene

    Find genes that share paralogs with ATG3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATG3
    PGOHUM00000247532


    (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 ATG3 (see all 572)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs678233751,2
    C--109657689(-) CAAAT-/TAAAC 
            
    TAGAG
    1 -- int12Minor allele frequency- TAAAC:0.25NA 4
    rs675713981,2
    C--112222089(-) GTGTC-/TTT   
       
    /TTTT
    TTTTT
    2 -- int1 cds12NA 4
    rs29331401,2
    C,F,A,H--112250872(-) TATTCT/CCTTTA 1 -- int117Minor allele frequency- C:0.02NS EA NA WA CSA 793
    rs340808151,2
    C,F--112250934(+) ACTTGC/TCTTTC 1 -- int14Minor allele frequency- T:0.05NA EA 244
    rs1470642611,2
    C--112251056(+) AAAAA-/TAATTT 1 -- int10--------
    rs1436849881,2
    C--112251073(+) TATCAA/GTATCA 1 -- int10--------
    rs2005845701,2
    --112251111(+) GTACT-/TAAAGAG 1 -- int10--------
    rs593336341,2
    C--112251112(+) TACTTAA/-AGAGT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1996083941,2
    C--112251113(+) ACTTAA/GAGAGT 1 -- int10--------
    rs1463420491,2
    --112251404(+) GGAACA/GTATTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATG3 (112251356 - 112280893 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATG3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv272571CNV Insertion20981092
    nsv877342CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATG3
    DNA2.0 Custom Variant and Variant Library Synthesis for ATG3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609606    OMIM disorders: --


    Find genes that share disorders with ATG3           About GenesLikeMe

    Genetic Association Database (GAD): ATG3
    Human Genome Epidemiology (HuGE) Navigator: ATG3 (1 document)

    Export disorders for ATG3 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 ATG3 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with ATG3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p. (PubMed id 11825910)1, 2, 3, 9 Tanida I.... Kominami E. (J. Biol. Chem. 2002)
    2. Cleavage of Atg3 protein by caspase-8 regulates autophagy during receptor-activated cell death. (PubMed id 22644571)1, 2 Oral O....Gozuacik D. (Apoptosis 2012)
    3. ATG12 conjugation to ATG3 regulates mitochondrial homeostasis and cell death. (PubMed id 20723759)1, 2 Radoshevich L....Debnath J. (Cell 2010)
    4. Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7. (PubMed id 20697744)1, 4 Metzger S....Nguyen H.P. (Hum. Genet. 2010)
    5. A novel hybrid yeast-human network analysis reveals an essential role for FNBP1L in antibacterial autophagy. (PubMed id 19342671)1, 2 Huett A.... Xavier R.J. (J. Immunol. 2009)
    6. Atg8L/Apg8L is the fourth mammalian modifier of mammalian Atg8 conjugation mediated by human Atg4B, Atg7 and Atg3. (PubMed id 16704426)1, 2 Tanida I....Kominami E. (FEBS J. 2006)
    7. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    8. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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)

    (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: 64422 HGNC: 20962 AceView: APG3L Ensembl:ENSG00000144848 euGenes: HUgn64422
    ECgene: ATG3 Kegg: 64422 H-InvDB: ATG3

    (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 ATG3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATG3 gene:
    Search GeneIP for patents involving ATG3

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



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