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ATG12 autophagy related 12 [ Homo sapiens (human) ]

Gene ID: 9140, updated on 5-Mar-2024

Summary

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Official Symbol
ATG12provided by HGNC
Official Full Name
autophagy related 12provided by HGNC
Primary source
HGNC:HGNC:588
See related
Ensembl:ENSG00000145782 MIM:609608; AllianceGenome:HGNC:588
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APG12; FBR93; APG12L; HAPG12
Summary
Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in brain (RPKM 8.9), fat (RPKM 8.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
5q22.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (115828200..115841565, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (116340597..116353961, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (115163897..115177262, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U2 small nuclear 49, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14872 Neighboring gene uncharacterized LOC124901049 Neighboring gene cysteine dioxygenase type 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:115176125-115176625 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:115176629-115177530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22939 Neighboring gene adaptor related protein complex 3 subunit sigma 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:115216191-115216388 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:115265650-115266849 Neighboring gene lincRNA adipogenesis and lipogenesis associated

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ATG12 deficiency results in intracellular glutamine depletion, abrogation of tumor hypoxia and a favorable prognosis in cancer. Keulers TG, et al. Autophagy, 2022 Aug. PMID 34904929, Free PMC Article
  2. ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics. Liu H, et al. Cell Death Differ, 2020 Jun. PMID 31844253, Free PMC Article
  3. ATG12 expression quantitative trait loci associated with head and neck squamous cell carcinoma risk in a Chinese Han population. Song X, et al. Mol Carcinog, 2018 Aug. PMID 29637616
  4. Novel and functional ATG12 gene variants in sporadic Parkinson's disease. Li Y, et al. Neurosci Lett, 2017 Mar 16. PMID 28229934
  5. Ubiquitination and proteasomal degradation of ATG12 regulates its proapoptotic activity. Haller M, et al. Autophagy, 2014. PMID 25629932, Free PMC Article

See all (93) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. circ_SIRT1 upregulates ATG12 to facilitate Imatinib resistance in CML through interacting with EIF4A3.
    Title: circ_SIRT1 upregulates ATG12 to facilitate Imatinib resistance in CML through interacting with EIF4A3.
  2. ATG12 deficiency results in intracellular glutamine depletion, abrogation of tumor hypoxia and a favorable prognosis in cancer.
    Title: ATG12 deficiency results in intracellular glutamine depletion, abrogation of tumor hypoxia and a favorable prognosis in cancer.
  3. Adaptor SH3BGRL drives autophagy-mediated chemoresistance through promoting PIK3C3 translation and ATG12 stability in breast cancers.
    Title: Adaptor SH3BGRL drives autophagy-mediated chemoresistance through promoting PIK3C3 translation and ATG12 stability in breast cancers.
  4. LncRNA OIP5-AS1 Promotes the Autophagy-Related Imatinib Resistance in Chronic Myeloid Leukemia Cells by Regulating miR-30e-5p/ATG12 Axis.
    Title: LncRNA OIP5-AS1 Promotes the Autophagy-Related Imatinib Resistance in Chronic Myeloid Leukemia Cells by Regulating miR-30e-5p/ATG12 Axis.
  5. Toxoplasma gondii profilin and tachyzoites RH strain may manipulate autophagy via downregulating Atg5 and Atg12 and upregulating Atg7.
    Title: Toxoplasma gondii profilin and tachyzoites RH strain may manipulate autophagy via downregulating Atg5 and Atg12 and upregulating Atg7.
  6. LncRNA KCNQ1OT1 as a miR-26a-5p sponge regulates ATG12-mediated cardiomyocyte autophagy and aggravates myocardial infarction.
    Title: LncRNA KCNQ1OT1 as a miR-26a-5p sponge regulates ATG12-mediated cardiomyocyte autophagy and aggravates myocardial infarction.
  7. ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics.
    Title: ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics.
  8. BIRC5/Survivin is a novel ATG12-ATG5 conjugate interactor and an autophagy-induced DNA damage suppressor in human cancer and mouse embryonic fibroblast cells.
    Title: BIRC5/Survivin is a novel ATG12-ATG5 conjugate interactor and an autophagy-induced DNA damage suppressor in human cancer and mouse embryonic fibroblast cells.
  9. PTBP3 promotes malignancy and hypoxia-induced chemoresistance in pancreatic cancer cells by ATG12 up-regulation.
    Title: PTBP3 promotes malignancy and hypoxia-induced chemoresistance in pancreatic cancer cells by ATG12 up-regulation.
  10. WASF3 silencing promotes proliferation, migration and invasiveness of gastric cancer cells; its knockdown depended on the inhibition of Atg12-mediated autophagy
    Title: WASF3 Knockdown Sensitizes Gastric Cancer Cells to Oxaliplatin by Inhibiting ATG12-Mediated Autophagy.
Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of autophagy related 12 homolog (ATG12) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to Atg8-family ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in autophagosome assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in autophagosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in macroautophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in macroautophagy ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of defense response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of innate immune response ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of type I interferon production ISO
Inferred from Sequence Orthology
more info
  
involved_in piecemeal microautophagy of the nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of viral translation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein lipidation involved in autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in autophagosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in autophagosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in phagocytic vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in phagophore assembly site membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in phagophore assembly site membrane ISO
Inferred from Sequence Orthology
more info
  
located_in phagophore assembly site membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of protein-containing complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of transferase complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
ubiquitin-like protein ATG12
Names
APG12 autophagy 12-like
ATG12 autophagy related 12 homolog
Apg12 (autophagy, yeast) homolog

NCBI Reference Sequences (RefSeq)

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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_001277783.2 → NP_001264712.1  ubiquitin-like protein ATG12 isoform 2

    See identical proteins and their annotated locations for NP_001264712.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC026449, BC011033
    Consensus CDS
    CCDS64222.1
    UniProtKB/Swiss-Prot
    O94817
    Related
    ENSP00000425164.1, ENST00000500945.2

  2. NM_004707.4 → NP_004698.3  ubiquitin-like protein ATG12 isoform 1

    See identical proteins and their annotated locations for NP_004698.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
    Source sequence(s)
    AC026449, BC012266, DB530852
    Consensus CDS
    CCDS4122.2
    UniProtKB/Swiss-Prot
    O94817, Q6PJV2
    UniProtKB/TrEMBL
    B2R8C8
    Related
    ENSP00000425107.1, ENST00000509910.2
    Conserved Domains (1) summary
    pfam04110
    Location:54 → 140
    APG12; Ubiquitin-like autophagy protein Apg12

RNA

  1. NR_033362.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an additional internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC026449, CN400030, DA005347, DB530852

  2. NR_033363.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an additional internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC026449, CB995198, DA005347, DB530852

  3. NR_073603.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC026449, AK313320

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    115828200..115841565 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    116340597..116353961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_073604.1: Suppressed sequence

    Description
    NR_073604.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94817.1 GenPept UniProtKB/Swiss-Prot:O94817

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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