Human Gene ATG7 (uc003bwc.3)
  Description: Homo sapiens autophagy related 7 (ATG7), transcript variant 1, mRNA.
RefSeq Summary (NM_006395): This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015].
Transcript (Including UTRs)
   Position: hg19 chr3:11,314,010-11,599,139 Size: 285,130 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr3:11,340,170-11,596,317 Size: 256,148 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:11,314,010-11,599,139)mRNA (may differ from genome)Protein (703 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ATG7_HUMAN
DESCRIPTION: RecName: Full=Ubiquitin-like modifier-activating enzyme ATG7; AltName: Full=ATG12-activating enzyme E1 ATG7; AltName: Full=Autophagy-related protein 7; Short=APG7-like; Short=hAGP7; AltName: Full=Ubiquitin-activating enzyme E1-like protein;
FUNCTION: Functions as an E1 enzyme essential for multisubstrates such as ATG8-like proteins and ATG12. Forms intermediate conjugates with ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A). PE-conjugation to ATG8-like proteins is essential for autophagy. Also acts as an E1 enzyme for ATG12 conjugation to ATG5 and ATG3 (By similarity).
SUBUNIT: Homodimer (By similarity). Interacts with ATG3 and ATG12. The complex, composed of ATG3 and ATG7, plays a role in the conjugation of ATG12 to ATG5.
INTERACTION: P29692:EEF1D; NbExp=2; IntAct=EBI-987834, EBI-358607; O95166:GABARAP; NbExp=8; IntAct=EBI-987834, EBI-712001; Q9H0R8:GABARAPL1; NbExp=6; IntAct=EBI-987834, EBI-746969; P60520:GABARAPL2; NbExp=4; IntAct=EBI-987834, EBI-720116; P14316:IRF2; NbExp=2; IntAct=EBI-987834, EBI-2866589; Q9GZQ8:MAP1LC3B; NbExp=7; IntAct=EBI-987834, EBI-373144;
SUBCELLULAR LOCATION: Cytoplasm (Probable).
TISSUE SPECIFICITY: Widely expressed, especially in kidney, liver, lymph nodes and bone marrow.
DOMAIN: The C-terminal part of the protein is essential for the dimerization and interaction with ATG3 and ATG12 (By similarity).
SIMILARITY: Belongs to the ATG7 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATG7
CDC HuGE Published Literature: ATG7

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.80 RPKM in Testis
Total median expression: 176.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.60117-0.458 Picture PostScript Text
3' UTR -1062.172822-0.376 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006285 - E1-like_Apg7
IPR009036 - Molybdenum_cofac_synth_MoeB
IPR016040 - NAD(P)-bd_dom
IPR000594 - ThiF_NAD_FAD-bd

Pfam Domains:
PF00899 - ThiF family
PF16420 - Ubiquitin-like modifier-activating enzyme ATG7 N-terminus

SCOP Domains:
69572 - Activating enzymes of the ubiquitin-like proteins
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on O95352
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004839 ubiquitin activating enzyme activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008641 small protein activating enzyme activity
GO:0019778 Atg12 activating enzyme activity
GO:0019779 Atg8 activating enzyme activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0000045 autophagosome assembly
GO:0000422 mitophagy
GO:0006464 cellular protein modification process
GO:0006497 protein lipidation
GO:0006501 C-terminal protein lipidation
GO:0006914 autophagy
GO:0006995 cellular response to nitrogen starvation
GO:0007568 aging
GO:0009267 cellular response to starvation
GO:0009749 response to glucose
GO:0010508 positive regulation of autophagy
GO:0015031 protein transport
GO:0016236 macroautophagy
GO:0016567 protein ubiquitination
GO:0031401 positive regulation of protein modification process
GO:0031667 response to nutrient levels
GO:0034727 piecemeal microautophagy of nucleus
GO:0039521 suppression by virus of host autophagy
GO:0043065 positive regulation of apoptotic process
GO:0043312 neutrophil degranulation
GO:0044805 late nucleophagy
GO:0045732 positive regulation of protein catabolic process
GO:0051607 defense response to virus
GO:0060548 negative regulation of cell death
GO:0061025 membrane fusion
GO:0071315 cellular response to morphine
GO:0071455 cellular response to hyperoxia
GO:0075044 autophagy of host cells involved in interaction with symbiont
GO:0090298 negative regulation of mitochondrial DNA replication
GO:1901214 regulation of neuron death
GO:1902617 response to fluoride
GO:1903204 negative regulation of oxidative stress-induced neuron death

Cellular Component:
GO:0000407 pre-autophagosomal structure
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005930 axoneme
GO:0030424 axon
GO:0034774 secretory granule lumen
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  KJ893066 - Synthetic construct Homo sapiens clone ccsbBroadEn_02460 ATG7 gene, encodes complete protein.
AK298833 - Homo sapiens cDNA FLJ53475 complete cds, highly similar to Autophagy-related protein 7.
AK303694 - Homo sapiens cDNA FLJ53485 complete cds, highly similar to Autophagy-related protein 7.
AK075221 - Homo sapiens cDNA FLJ90740 fis, clone PLACE1011045, highly similar to Autophagy-related protein 7.
AK314504 - Homo sapiens cDNA, FLJ95321, highly similar to Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), mRNA.
BC000091 - Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae), mRNA (cDNA clone MGC:1334 IMAGE:3504204), complete cds.
AF094516 - Homo sapiens E1-like protein mRNA, complete cds.
AL122075 - Homo sapiens mRNA; cDNA DKFZp434N0735 (from clone DKFZp434N0735); partial cds.
JD469372 - Sequence 450396 from Patent EP1572962.
CU674028 - Synthetic construct Homo sapiens gateway clone IMAGE:100017768 5' read ATG7 mRNA.
JD199199 - Sequence 180223 from Patent EP1572962.
JD372819 - Sequence 353843 from Patent EP1572962.
JD199113 - Sequence 180137 from Patent EP1572962.
JD261276 - Sequence 242300 from Patent EP1572962.
JD423950 - Sequence 404974 from Patent EP1572962.
DQ596683 - Homo sapiens piRNA piR-34749, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04140 - Regulation of autophagy

Reactome (by CSHL, EBI, and GO)

Protein O95352 (Reactome details) participates in the following event(s):

R-HSA-5681980 ATG12 binds ATG7 dimer
R-HSA-5683583 ATG10:ATG12:ATG7 dimer dissociates
R-HSA-5683593 ATG7:ATG3:LC3 dissociates
R-HSA-983153 E1 mediated ubiquitin activation
R-HSA-983152 Transfer of ubiquitin from E1 to E2
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-5681999 ATG10 transfers ATG12 from ATG7 to ATG10
R-HSA-5681981 ATG3 transfers LC3 from ATG7 to ATG3
R-HSA-9020616 ATG12 forms a thioester bond with ATG7 dimer
R-HSA-5682893 ATG12:ATG7:CysO572-ATG7 binds ATG10
R-HSA-5682896 LC3:ATG7 dimer binds ATG3
R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-1632852 Macroautophagy
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-6798695 Neutrophil degranulation
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-168249 Innate Immune System
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: APG7L, ATG7_HUMAN, NM_006395, NP_006386, O95352, Q7L8L0, Q9BWP2, Q9UFH4
UCSC ID: uc003bwc.3
RefSeq Accession: NM_006395
Protein: O95352 (aka ATG7_HUMAN)
CCDS: CCDS2605.1, CCDS46752.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006395.2
exon count: 19CDS single in 3' UTR: no RNA size: 5059
ORF size: 2112CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4424.00frame shift in genome: no % Coverage: 99.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.