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FLASH GENE

Symbol

ATG12

contributors: np/mct - updated : 15-01-2015

HGNC name	ATG12 autophagy related 12 homolog (S. cerevisiae)
HGNC id	588

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004707 4 - 4330 NP_004698 - 140 - 1998 9490301

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus         Urinary bladder

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to Drosophila Cgi0861

Homologene

FAMILY

ATG12 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	with ATG2B, ATG5, ATG9B, are autophagy-related genes, having mononucleotide repeats with seven or more nucleotides
	two ubiquitin-like conjugation systems, ATG12 and GABARAPL2 systems, which are tightly associated with expansion of autophagosomal membrane are required for autophagosome formation
	ATG12-ATG5 conjugate has a novel E3-like activity for protein lipidation in autophagy
	ATG5-ATG12 conjugate, a key regulator of the autophagic process, plays an important role in innate antiviral immune responses
	ubiquitin-like modifier required for macroautophagy, has a single known conjugation target, another autophagy regulator called ATG5
	role for ATG12-ATG3 in mitochondrial homeostasis and implicate the ATG12 conjugation system in cellular functions distinct from the early steps of autophagosome formation
	ATG12 conjugation system directs cellular functions distinct from the early steps of autophagosome formation
	like ubiquitin and SUMO, may serve as a broad-based ubiquitin-like protein conjugation with far-reaching implications in biology and human disease
	essential autophagy protein that is a positive mediator of mitochondrial apoptosis
	MAP1LC3B, ATG5 and ATG12 are involved in mitochondrial quality control after oxidative damage, and to cellular longevity.

CELLULAR PROCESS	cell life, cell death/apoptosis
	protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	covalently linked to APG5L component of conjugation system leading to protein degradation
	part of ATG12-ATG3 complex
	is a key component of an E3-like ATG12-ATG5-ATG16L1 protein complex that catalyzes conjugation of the MAP1LC3 protein to lipids, thus controlling autophagic vesicle formation and expansion

INTERACTION

DNA

RNA

small molecule

protein	binding to APG5L
	ATG10 interacts with ATG7 to receive an ubiquitin-like protein ATG12, recognizes both ATG12 and ATG5 directly and catalyzes their conjugation reaction
	directly regulates the apoptotic pathway by binding and inactivating prosurvival BCL2 family members, including BCL2 and MCL1
	interaction between ATG12 and BCL2 family members may thus constitute an important point of convergence between autophagy and apoptosis in response to specific signals
	concerted interactions among TECPR1, ATG12-ATG5, and PtdIns(3)P provide the fusion specificity between autophagosomes and lysosomes and the assembly of this complex initiates the autophagosome maturation process
	autophagic E2 enzymes, ATG10, interacts with ATG7 to receive ATG12, a ubiquitin-like molecule, and is also involved in the ATG12-ATG5 conjugation reaction
	during process of induced autophagy, the ATG12-ATG5 conjugate requires 2 different binding partners, ATG16L1 for autophagosome elongation and TECPR1 for lysosomal fusion

cell & other

REGULATION

induced by

mitochondrial DNA deletions and chloramphenicol treatment

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     frequently deleted in lung cancers tumoral somatic mutation       in gastric and colorectal cancers with microsatellite instability

Susceptibility

to development of hepatocellular carcinoma (HCC)

Variant & Polymorphism other	ATG12 rs26537 significantly associated with HCC risk

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS