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ATG7 autophagy related 7 [ Homo sapiens (human) ]

Gene ID: 10533, updated on 4-Dec-2022

Summary

Official Symbol
ATG7provided by HGNC
Official Full Name
autophagy related 7provided by HGNC
Primary source
HGNC:HGNC:16935
See related
Ensembl:ENSG00000197548 MIM:608760; AllianceGenome:HGNC:16935
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSA7; APG7L; SCAR31; APG7-LIKE
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 10.0), thyroid (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

See ATG7 in Genome Data Viewer
Location:
3p25.3
Exon count:
32
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (11272397..11576353)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (11267348..11559958)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (11314083..11606126)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723663 Neighboring gene histamine receptor H1 Neighboring gene Sharpr-MPRA regulatory region 13806 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 8254 Neighboring gene vestigial like family member 4 Neighboring gene Sharpr-MPRA regulatory region 9131

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia, autosomal recessive 31
MedGen: C5543627 OMIM: 619422 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of autophagy related 7 homolog (ATG7) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat The siRNA-mediated reduction of ATG7 protein reverses Torin-1-induced HIV-1 Tat degradation, suggesting ATG7 is involved in the lysosomal-mediated Tat degradation PubMed
capsid gag Knockdown of autophagy factor ATG7 results in diminished levels of p24 yields in both primary monocyte- and U937-derived macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434N0735

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Atg12 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables Atg12 activating enzyme activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables Atg8 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in C-terminal protein lipidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in autophagy IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in autophagy of mitochondrion IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cellular response to hyperoxia IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to nitrogen starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to starvation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in late nucleophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in piecemeal microautophagy of the nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of protein modification process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein lipidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein modification by small protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in rhythmic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
is_active_in phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ubiquitin-like modifier-activating enzyme ATG7
Names
APG7 autophagy 7-like
ATG12-activating enzyme E1 ATG7
hAGP7
ubiquitin-activating enzyme E1-like protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001136031.3NP_001129503.2  ubiquitin-like modifier-activating enzyme ATG7 isoform b

    See identical proteins and their annotated locations for NP_001129503.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform b.
    Source sequence(s)
    AC022001, AL122075, BC000091, DA177126
    Consensus CDS
    CCDS46752.1
    UniProtKB/Swiss-Prot
    O95352
    Related
    ENSP00000347042.5, ENST00000354956.9
    Conserved Domains (1) summary
    cl25654
    Location:15675
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  2. NM_001144912.2NP_001138384.1  ubiquitin-like modifier-activating enzyme ATG7 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform c.
    Source sequence(s)
    AC022001, AK303694, AL122075, BC000091, DA177126
    Consensus CDS
    CCDS46753.1
    UniProtKB/Swiss-Prot
    O95352
    Related
    ENSP00000412580.2, ENST00000446450.6
    Conserved Domains (3) summary
    cd01486
    Location:318616
    Apg7; Apg7 is an E1-like protein, that activates two different ubiquitin-like proteins, Apg12 and Apg8, and assigns them to specific E2 enzymes, Apg10 and Apg3, respectively. This leads to the covalent conjugation of Apg8 with phosphatidylethanolamine, an ...
    TIGR01381
    Location:15614
    E1_like_apg7; E1-like protein-activating enzyme Gsa7p/Apg7p
    pfam16420
    Location:13282
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  3. NM_001349232.2NP_001336161.1  ubiquitin-like modifier-activating enzyme ATG7 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (a). Variants 1, 4, 5, 6, and 7 all encode the same isoform (a).
    Source sequence(s)
    AC020750, AC022001, AC026185, AC083855
    Consensus CDS
    CCDS2605.1
    UniProtKB/Swiss-Prot
    Q9UFH4
    Related
    ENSP00000510336.1, ENST00000693202.1
    Conserved Domains (1) summary
    cl25654
    Location:15702
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  4. NM_001349233.2NP_001336162.1  ubiquitin-like modifier-activating enzyme ATG7 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 4, 6, and 7, encodes the longest isoform (a).
    Source sequence(s)
    AC020750, AC022001, AC026185, AC083855
    Consensus CDS
    CCDS2605.1
    UniProtKB/Swiss-Prot
    Q9UFH4
    Related
    ENSP00000509725.1, ENST00000685771.1
    Conserved Domains (1) summary
    cl25654
    Location:15702
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  5. NM_001349234.2NP_001336163.1  ubiquitin-like modifier-activating enzyme ATG7 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 4, 5, and 7, encodes the longest isoform (a).
    Source sequence(s)
    AC020750, AC022001, AC026185, AC083855
    Consensus CDS
    CCDS2605.1
    UniProtKB/Swiss-Prot
    Q9UFH4
    Conserved Domains (1) summary
    cl25654
    Location:15702
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  6. NM_001349235.2NP_001336164.1  ubiquitin-like modifier-activating enzyme ATG7 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 4, 5, and 6, encodes the longest isoform (a).
    Source sequence(s)
    AC020750, AC022001, AC026185, AC083855
    Consensus CDS
    CCDS2605.1
    UniProtKB/Swiss-Prot
    Q9UFH4
    Conserved Domains (1) summary
    cl25654
    Location:15702
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  7. NM_001349236.2NP_001336165.1  ubiquitin-like modifier-activating enzyme ATG7 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) encodes isoform d.
    Source sequence(s)
    AC020750, AC022001, AC026185, AC083855
    Conserved Domains (1) summary
    cl25654
    Location:15663
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  8. NM_001349237.2NP_001336166.1  ubiquitin-like modifier-activating enzyme ATG7 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) encodes isoform e.
    Source sequence(s)
    AC020750, AC022001, AC026185, AC083855
    Conserved Domains (1) summary
    cl25654
    Location:15649
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  9. NM_001349238.2NP_001336167.1  ubiquitin-like modifier-activating enzyme ATG7 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) encodes isoform f.
    Source sequence(s)
    AC020750, AC022001, AC026185, AC083855
    Conserved Domains (1) summary
    cd01486
    Location:46371
    Apg7; Apg7 is an E1-like protein, that activates two different ubiquitin-like proteins, Apg12 and Apg8, and assigns them to specific E2 enzymes, Apg10 and Apg3, respectively. This leads to the covalent conjugation of Apg8 with phosphatidylethanolamine, an ...
  10. NM_006395.3NP_006386.1  ubiquitin-like modifier-activating enzyme ATG7 isoform a

    See identical proteins and their annotated locations for NP_006386.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variants 4, 5, 6, and 7, encodes the longest isoform (a).
    Source sequence(s)
    AC022001, AK075221, AL122075, BC000091, DA177126
    Consensus CDS
    CCDS2605.1
    UniProtKB/Swiss-Prot
    O95352, Q9UFH4
    UniProtKB/TrEMBL
    B3KQM6
    Related
    ENSP00000346437.3, ENST00000354449.7
    Conserved Domains (1) summary
    cl25654
    Location:15702
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    11272397..11576353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005548.2XP_016861037.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X4

    Conserved Domains (3) summary
    cd01486
    Location:357682
    Apg7; Apg7 is an E1-like protein, that activates two different ubiquitin-like proteins, Apg12 and Apg8, and assigns them to specific E2 enzymes, Apg10 and Apg3, respectively. This leads to the covalent conjugation of Apg8 with phosphatidylethanolamine, an ...
    TIGR01381
    Location:15697
    E1_like_apg7; E1-like protein-activating enzyme Gsa7p/Apg7p
    pfam16420
    Location:13321
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  2. XM_017005551.2XP_016861040.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X10

  3. XM_047447304.1XP_047303260.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X13

  4. XM_047447296.1XP_047303252.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

  5. XM_011533277.4XP_011531579.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

    See identical proteins and their annotated locations for XP_011531579.1

    Conserved Domains (1) summary
    TIGR01381
    Location:15693
    E1_like_apg7; E1-like protein-activating enzyme Gsa7p/Apg7p
  6. XM_006712932.5XP_006712995.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

    See identical proteins and their annotated locations for XP_006712995.1

    Conserved Domains (1) summary
    TIGR01381
    Location:15693
    E1_like_apg7; E1-like protein-activating enzyme Gsa7p/Apg7p
  7. XM_006712931.5XP_006712994.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

    See identical proteins and their annotated locations for XP_006712994.1

    Conserved Domains (1) summary
    TIGR01381
    Location:15693
    E1_like_apg7; E1-like protein-activating enzyme Gsa7p/Apg7p
  8. XM_017005543.2XP_016861032.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X7

    Conserved Domains (3) summary
    cd01486
    Location:357655
    Apg7; Apg7 is an E1-like protein, that activates two different ubiquitin-like proteins, Apg12 and Apg8, and assigns them to specific E2 enzymes, Apg10 and Apg3, respectively. This leads to the covalent conjugation of Apg8 with phosphatidylethanolamine, an ...
    TIGR01381
    Location:15666
    E1_like_apg7; E1-like protein-activating enzyme Gsa7p/Apg7p
    pfam16420
    Location:13321
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  9. XM_047447301.1XP_047303257.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X8

  10. XM_047447303.1XP_047303259.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X12

  11. XM_047447294.1XP_047303250.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X5

    UniProtKB/TrEMBL
    A0A024R2E9
  12. XM_047447302.1XP_047303258.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X11

  13. XM_047447305.1XP_047303261.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X14

  14. XM_047447293.1XP_047303249.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X3

  15. XM_047447300.1XP_047303256.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X6

  16. XM_047447306.1XP_047303262.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X15

  17. XM_024453312.2XP_024309080.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X2

    Conserved Domains (1) summary
    cl25654
    Location:15694
    ATG7_N; Ubiquitin-like modifier-activating enzyme ATG7 N-terminus
  18. XM_017005550.2XP_016861039.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X9

  19. XM_047447298.1XP_047303254.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

  20. XM_047447295.1XP_047303251.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

  21. XM_047447299.1XP_047303255.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

  22. XM_047447297.1XP_047303253.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

  23. XM_017005542.2XP_016861031.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X1

    Conserved Domains (1) summary
    TIGR01381
    Location:15693
    E1_like_apg7; E1-like protein-activating enzyme Gsa7p/Apg7p
  24. XM_047447307.1XP_047303263.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X16

  25. XM_047447308.1XP_047303264.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X17

  26. XM_047447309.1XP_047303265.1  ubiquitin-like modifier-activating enzyme ATG7 isoform X18

RNA

  1. XR_007095622.1 RNA Sequence

  2. XR_007095623.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    11267348..11559958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)