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ATG5 autophagy related 5 [ Homo sapiens (human) ]

Gene ID: 9474, updated on 7-Jun-2026
Official Symbol
ATG5provided by HGNC
Official Full Name
autophagy related 5provided by HGNC
Primary source
HGNC:HGNC:589
See related
Ensembl:ENSG00000057663 MIM:604261; AllianceGenome:HGNC:589
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
ASP; APG5; APG5L; hAPG5; SCAR25; APG5-LIKE
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 11.9), adrenal (RPKM 11.0) and 25 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See ATG5 in Genome Data Viewer
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (106184476..106325760, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (107360315..107501922, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (106632351..106773635, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17429 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:106441121-106441655 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:106442725-106443257 Neighboring gene NANOG hESC enhancer GRCh37_chr6:106462748-106463464 Neighboring gene PR/SET domain 1 Neighboring gene NANOG hESC enhancer GRCh37_chr6:106511809-106512319 Neighboring gene NANOG hESC enhancer GRCh37_chr6:106528405-106528951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24877 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:106533839-106534558 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:106546043-106547242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:106552649-106553363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:106553364-106554077 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:106582537-106583736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24878 Neighboring gene Sharpr-MPRA regulatory region 9287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:106611080-106611926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:106611927-106612773 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:106614661-106615396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17430 Neighboring gene MPRA-validated peak6001 silencer Neighboring gene RNA, 7SL, cytoplasmic 47, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:106771297-106771797 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:106770796-106771296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24885 Neighboring gene RNA, U6 small nuclear 344, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:106808598-106809464 Neighboring gene crystallin beta-gamma domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:106895745-106896246 Neighboring gene uncharacterized LOC105377924 Neighboring gene RNA, 5S ribosomal pseudogene 211

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Association of ATG5 Gene Polymorphisms With Behçet's Disease and ATG10 Gene Polymorphisms With VKH Syndrome in a Chinese Han Population. Zheng M, et al. Invest Ophthalmol Vis Sci, 2015 Dec. PMID 26747760
  2. A novel and functional variant within the ATG5 gene promoter in sporadic Parkinson's disease. Chen D, et al. Neurosci Lett, 2013 Mar 22. PMID 23384565
  3. Autophagy-related 5 gene mRNA expression and ATG5 rs510432 polymorphism in children with bronchial asthma. Ahmad ES, et al. Pediatr Pulmonol, 2022 Nov. PMID 35836404
  4. Impairment of Atg5-dependent autophagic flux promotes paraquat- and MPP⁺-induced apoptosis but not rotenone or 6-hydroxydopamine toxicity. Garcia-Garcia A, et al. Toxicol Sci, 2013 Nov. PMID 23997112, Free PMC Article
  5. Polymorphisms of ATG5 Gene Are Associated with Autoimmune Thyroid Diseases, Especially Thyroid Eye Disease. Wang W, et al. J Immunol Res, 2022. PMID 35518570, Free PMC Article

See all (275) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ATG5 nonautophagically regulates inflammation and differentiation in mouse embryonic stem cells.
    Title: ATG5 nonautophagically regulates inflammation and differentiation in mouse embryonic stem cells.
  2. Autophagy-related protein 5 (ATG5) interacts with bone marrow stromal cell antigen 2 (BST2) to stimulate HBV replication through antagonizing the antiviral activity of BST2.
    Title: Autophagy-related protein 5 (ATG5) interacts with bone marrow stromal cell antigen 2 (BST2) to stimulate HBV replication through antagonizing the antiviral activity of BST2.
  3. Autophagy related gene 5 polymorphism rs17587319 (C/G) in asthmatic patients in North Indian population.
    Title: Autophagy related gene 5 polymorphism rs17587319 (C/G) in asthmatic patients in North Indian population.
  4. Autophagy-related 5 in acute ischemic stroke: Variation and linkage with neurofunction, and survival.
    Title: Autophagy-related 5 in acute ischemic stroke: Variation and linkage with neurofunction, and survival.
  5. Serum autophagy-related gene 5 level in stroke patients: correlation with CD4+ T cells and cognition impairment during a 3-year follow-up.
    Title: Serum autophagy-related gene 5 level in stroke patients: correlation with CD4+ T cells and cognition impairment during a 3-year follow-up.
  6. MIR222HG/LIN28B/ATG5 Axis Drives M2 Macrophage Polarization and Proliferation of Hepatocellular Carcinoma Cells.
    Title: MIR222HG/LIN28B/ATG5 Axis Drives M2 Macrophage Polarization and Proliferation of Hepatocellular Carcinoma Cells.
  7. Association of ATG16L1 and ATG5 gene polymorphisms with susceptibility to hepatitis B virus infection and progression to HCC in central China.
    Title: Association of ATG16L1 and ATG5 gene polymorphisms with susceptibility to hepatitis B virus infection and progression to HCC in central China.
  8. LncRNA TEX41 promotes the proliferation and migration of squamous cell carcinoma cells by upregulating Atg5 via sponging miR-153-3p.
    Title: LncRNA TEX41 promotes the proliferation and migration of squamous cell carcinoma cells by upregulating Atg5 via sponging miR-153-3p.
  9. Comparative Genetic Analysis of the Promoters of the ATG16L1 and ATG5 Genes Associated with Sporadic Parkinson's Disease.
    Title: Comparative Genetic Analysis of the Promoters of the ATG16L1 and ATG5 Genes Associated with Sporadic Parkinson's Disease.
  10. TRIM45 aggravates microglia pyroptosis via Atg5/NLRP3 axis in septic encephalopathy.
    Title: TRIM45 aggravates microglia pyroptosis via Atg5/NLRP3 axis in septic encephalopathy.
Submit: New GeneRIF Correction See all GeneRIFs (167)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spinocerebellar ataxia, autosomal recessive 25
MedGen: C4539808 OMIM: 617584 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
EBI GWAS Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
EBI GWAS Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Atg8-family ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in aggrephagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in aggrephagy IEA
Inferred from Electronic Annotation
more info
  
involved_in aggrephagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in autophagosome assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in autophagosome assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in autophagosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in autophagy IGI
Inferred from Genetic Interaction
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 axonal transport IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to nitrogen starvation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to nitrosative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in chaperone-mediated autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in macroautophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of autophagic cell death IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of defense response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of defense response to virus IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of programmed cell death IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of type I interferon production IEA
Inferred from Electronic Annotation
more info
  
involved_in piecemeal microautophagy of the nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of stress granule assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of viral translation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in post-translational protein modification IEA
Inferred from Electronic Annotation
more info
  
involved_in post-translational protein modification ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in postsynaptic modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cilium assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
  
involved_in response to fluoride IEA
Inferred from Electronic Annotation
more info
  
involved_in response to iron(II) ion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Atg12-Atg5-Atg16 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Atg12-Atg5-Atg16 complex IEA
Inferred from Electronic Annotation
more info
  
part_of Atg12-Atg5-Atg16 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in autophagosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in autophagosome IEA
Inferred from Electronic Annotation
more info
  
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in axoneme IEA
Inferred from Electronic Annotation
more info
  
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm EXP
Inferred from Experiment
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondria-associated endoplasmic reticulum membrane contact site IEA
Inferred from Electronic Annotation
more info
  
located_in phagocytic vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in phagophore IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in phagophore assembly site membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in phagophore assembly site membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in phagophore assembly site membrane IEA
Inferred from Electronic Annotation
more info
  
located_in phagophore assembly site membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in synapse IEA
Inferred from Electronic Annotation
more info
  
part_of transferase complex IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
autophagy protein 5
Names
APG5 autophagy 5-like
ATG5 autophagy related 5 homolog
apoptosis-specific protein

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_001286106.2 → NP_001273035.1  autophagy protein 5 isoform a

    See identical proteins and their annotated locations for NP_001273035.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AL138917, BC002699, BX537904, CR749386, HY168998
    Consensus CDS
    CCDS5055.1
    UniProtKB/Swiss-Prot
    O60875, Q5JVR2, Q68DI4, Q9H1Y0, Q9H2B8, Q9HCZ7
    UniProtKB/TrEMBL
    A9UGY9, B3KMH8
    Related
    ENSP00000343313.3, ENST00000343245.7
    Conserved Domains (1) summary
    pfam04106
    Location:79 → 270
    APG5; Autophagy protein Apg5

  2. NM_001286107.2 → NP_001273036.1  autophagy protein 5 isoform b

    See identical proteins and their annotated locations for NP_001273036.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    BP297166, BX537904, CR749386
    Consensus CDS
    CCDS69159.1
    UniProtKB/TrEMBL
    B7Z5Y6
    Related
    ENSP00000490493.1, ENST00000635758.2
    Conserved Domains (1) summary
    pfam04106
    Location:1 → 192
    APG5; Autophagy protein Apg5

  3. NM_001286108.2 → NP_001273037.1  autophagy protein 5 isoform c

    See identical proteins and their annotated locations for NP_001273037.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AK315800, BP297166, BX537904, Y11588
    UniProtKB/Swiss-Prot
    Q9H1Y0
    UniProtKB/TrEMBL
    Q7Z3H3
    Conserved Domains (1) summary
    pfam04106
    Location:79 → 189
    APG5; Autophagy protein Apg5

  4. NM_001286111.2 → NP_001273040.1  autophagy protein 5 isoform d

    See identical proteins and their annotated locations for NP_001273040.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate exons in the 5' coding region, which results in a frameshift in the remaining coding region, compared to variant 1. The encoded isoform (d) has the same N-terminus but is otherwise distinct and shorter than isoform a.
    Source sequence(s)
    BP297166, BX537904, Y11588
    Consensus CDS
    CCDS75498.1
    UniProtKB/TrEMBL
    Q7Z3H3
    Related
    ENSP00000353884.4, ENST00000360666.6

  5. NM_004849.4 → NP_004840.1  autophagy protein 5 isoform a

    See identical proteins and their annotated locations for NP_004840.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    BX537904, Y11588
    Consensus CDS
    CCDS5055.1
    UniProtKB/Swiss-Prot
    O60875, Q5JVR2, Q68DI4, Q9H1Y0, Q9H2B8, Q9HCZ7
    UniProtKB/TrEMBL
    A9UGY9, B3KMH8
    Related
    ENSP00000358072.3, ENST00000369076.8
    Conserved Domains (1) summary
    pfam04106
    Location:79 → 270
    APG5; Autophagy protein Apg5

RNA

  1. NR_104402.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks the 5' exon and an internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BP297166, BX537904, JQ918353, Y11588
    Related
    ENST00000613993.2

  2. NR_104403.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks the 5' exon and two internal exons, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BP297166, BX537904, JQ918354, Y11588
    Related
    ENST00000369070.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    106184476..106325760 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446590.2 → XP_024302358.1  autophagy protein 5 isoform X2

    UniProtKB/TrEMBL
    B7Z5Y6
    Conserved Domains (1) summary
    pfam04106
    Location:1 → 192
    APG5; Autophagy protein Apg5

  2. XM_047419574.1 → XP_047275530.1  autophagy protein 5 isoform X3

    UniProtKB/TrEMBL
    B7Z5Y6

  3. XM_047419573.1 → XP_047275529.1  autophagy protein 5 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y718
    Related
    ENSP00000495958.1, ENST00000646025.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    107360315..107501922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356850.1 → XP_054212825.1  autophagy protein 5 isoform X2

    UniProtKB/TrEMBL
    B7Z5Y6

  2. XM_054356851.1 → XP_054212826.1  autophagy protein 5 isoform X3

    UniProtKB/TrEMBL
    B7Z5Y6

  3. XM_054356849.1 → XP_054212824.1  autophagy protein 5 isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y718
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H1Y0.2 GenPept UniProtKB/Swiss-Prot:Q9H1Y0

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