U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ATG12 autophagy related 12 [ Homo sapiens (human) ]

Gene ID: 9140, updated on 13-May-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ATG12 in Genome Data Viewer
Location:
5q22.3
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (115828200..115841565, complement)
110 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 adaptor related protein complex 3 subunit sigma 1 Neighboring gene lincRNA adipogenesis and lipogenesis associated

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?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
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 autophagosome assembly 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 nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in macroautophagy 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 innate immune response 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 positive regulation of viral translation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein lipidation IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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 
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
PubMed 
located_in phagophore assembly site membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of protein-containing complex IC
Inferred by Curator
more info
PubMed 

General protein information

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

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_001277783.2NP_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_004707.4NP_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
    Related
    ENSP00000425107.1, ENST00000509910.2
    Conserved Domains (1) summary
    pfam04110
    Location:54140
    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: 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_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.