ATG12 autophagy related 12 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 5q22.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (115828200..115841565, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (116340597..116353961, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (115163897..115177262, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fgf8 (e-PCR), detects polymorphism
- UniSTS:506892

WI-14939 (e-PCR)
- UniSTS:83504

D10S16 (e-PCR)
- UniSTS:155756

RH91208 (e-PCR)
- UniSTS:90001

STS-N35906 (e-PCR)
- UniSTS:72089

RH79593 (e-PCR)
- UniSTS:92374

GDB:631802 (e-PCR)
- UniSTS:158429

WI-15770 (e-PCR)
- UniSTS:62456

RH68562 (e-PCR)
- UniSTS:26876

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
enables protein tag activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
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 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)

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
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

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

115828200..115841565 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NR_073604.1: Suppressed sequence

Description

NR_073604.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.