AMBRA1 (autophagy and beclin 1 regulator 1)

2014-02-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
DCAF3,WDR94
FUSION GENES

Other Information

Locus ID:

NCBI: 55626
MIM: 611359
HGNC: 25990
Ensembl: ENSG00000110497

Variants:

dbSNP: 55626
ClinVar: 55626
TCGA: ENSG00000110497
COSMIC: AMBRA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110497ENST00000314845Q9C0C7
ENSG00000110497ENST00000458649Q9C0C7
ENSG00000110497ENST00000526545H0YE34
ENSG00000110497ENST00000526606E9PL55
ENSG00000110497ENST00000528950Q9C0C7
ENSG00000110497ENST00000533727A0A075B6T1
ENSG00000110497ENST00000534300Q9C0C7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
Autophagy - animalKEGGhsa04140
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
235249512013mTOR inhibits autophagy by controlling ULK1 ubiquitylation, self-association and function through AMBRA1 and TRAF6.237
209211392010The dynamic interaction of AMBRA1 with the dynein motor complex regulates mammalian autophagy.165
213586172011Mitochondrial BCL-2 inhibits AMBRA1-induced autophagy.78
254380552015AMBRA1 links autophagy to cell proliferation and tumorigenesis by promoting c-Myc dephosphorylation and degradation.54
224416702012Proteolysis of Ambra1 during apoptosis has a role in the inhibition of the autophagic pro-survival response.42
254999132014AMBRA1 interplay with cullin E3 ubiquitin ligases regulates autophagy dynamics.40
230696542013Ambra1 at the crossroad between autophagy and cell death.31
234294962013Prognostic significance of autophagy-related protein expression in resected pancreatic ductal adenocarcinoma.28
302179732018HUWE1 E3 ligase promotes PINK1/PARKIN-independent mitophagy by regulating AMBRA1 activation via IKKα.27
245872522014Ambra1 is an essential regulator of autophagy and apoptosis in SW620 cells: pro-survival role of Ambra1.14

Citation

Dessen P

AMBRA1 (autophagy and beclin 1 regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53689/ambra1