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FLASH GENE

Symbol

AMBRA1

contributors: mct - updated : 07-12-2019

HGNC name	autophagy/beclin-1 regulator 1
HGNC id	25990

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11p11.2      Physical location : 46.417.963 - 46.612.914
Synonym name	KIAA1736 protein
	activating molecule in beclin-1-regulated autophagy
	WD repeat domain 94
Synonym symbol(s)	FLJ20294, MGC33725, KIAA1736, WDR94, DCAF3

DNA

TYPE	anonymous DNA segment
STRUCTURE	194.95 kb     19 Exon(s)

motif

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017749 19 - 5044 133 1208 - 2007 17589504

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 Digestive liver       lowly   mouth tongue     predominantly Lymphoid/Immune lymph node       highly Reproductive female system uterus cervix   moderately   female system breast mammary gland   moderately   female system ovary     moderately Skin/Tegument skin       highly Visual eye       lowly

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

two WD repeats, a WD40 domain at its amino terminus

conjugated

ubiquitinated

HOMOLOGY

interspecies

ortholog to rattus Nyw1

Homologene

FAMILY

CATEGORY

regulatory , unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	regulating autophagy and having a crucial role in embryogenesis
	positive regulator of the BECN1-dependent programme of autophagy
	activates autophagy in the CNS by stimulating the activity of the class III phosphatidylinositol 3-kinase (PI3K) complex that is essential for the formation of new phagophores
	not required for Parkin translocation to depolarized mitochondria but was critically important for subsequent mitochondrial clearance
	AMBRA1 is a mitophagy receptor for the selective removal of damaged mitochondria in mammalian cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	BECLIN 1-interacting protein, that positively regulates the BECLIN 1-dependent programme of autophagy
	can compete with both mitochondrial and endoplasmic reticulum-resident BCL2 (mito-BCL2 and ER-BCL2, respectively) to bind BECLIN 1 (a dynamic interaction exists between AMBRA1 and BCL-2 at the mitochondria that could regulate both BECLIN 1-dependent autophagy and apoptosis)
	ubiquitination of AMBRA1 by Parkin (interaction of Parkin with AMBRA1 is a key mechanism for induction of the final clearance step of Parkin-mediated mitophagy)
	WASH1 is a new interactor of BECN1 and present in the BECN1-PIK3C3 complex with AMBRA1
	RNF2 potentiates AMBRA1 degradation with the help of WASH1
	AMBRA1 is able to induce mitophagy via MAP1LC3A binding, regardless of PARK2 and SQSTM1
	through DEPTOR stabilization, AMBRA1 establishes a feedback loop that ensures the rapid onset of autophagy by enhancing MTOR inactivation
	HUWE1 is a key inducing factor in AMBRA1-mediated mitophagy, a process that takes place independently of the main mitophagy receptors
	MCL1 is an upstream stress-sensitive protein, functional in AMBRA1-mediated mitophagy
	MCL1 stability is regulated by the kinase GSK3B and the E3 ubiquitin ligase HUWE1 in regulating AMBRA1-mediated mitophagy

cell & other

REGULATION

Other

when autophagy is induced, ULK1 phosphorylates AMBRA1, releasing the autophagy core complex from dynein

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS