AMBRA1 regulates autophagy and development of the nervous system. It is a large, previously unknown protein bearing a WD40 domain at its amino terminus, regulates autophagy and has a crucial role in embryogenesis. AMBRA1 is a positive regulator of the Becn1-dependent programme of autophagy, as revealed by its overexpression and by RNA interference experiments invitro. Notably, AMBRA1 functional deficiency in mouse embryos leads to severe neural tube defects associated with autophagy impairment, accumulation of ubiquitinated proteins, unbalanced cell proliferation and excessive apoptotic cell death.
Function:
Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation.
Subunit:
Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3.
Subcellular Location:
Cytoplasmic vesicle, autophagosome.
Similarity:
Contains 3 WD repeats.
SWISS:
Q9C0C7
Gene ID:
55626
Database links:
Entrez Gene: 55626 Human
Entrez Gene: 228361 Mouse
Omim: 611359 Human
SwissProt: Q9C0C7 Human
SwissProt: A2AH22 Mouse
Unigene:
654644 Human
Unigene: 436667 Mouse
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Tissue/cell: rat brain tissue; 4% Paraformaldehyde-fixed and paraffin-embedded;
Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,SLC0005) at 37℃ for 20 min;
Incubation: Anti-AMBRA1 Polyclonal Antibody, Unconjugated(SL3830R) 1:200, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(SLC0010) staining
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