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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
p11.2
Chromosome location (bp)
46396414 - 46594125
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex involved in cell cycle control and autophagy 1,2,3,4,5,6,7. The DCX(AMBRA1) complex specifically mediates the polyubiquitination of target proteins such as BECN1, CCND1, CCND2, CCND3, ELOC and ULK1 8,9,10,11. Acts as an upstream master regulator of the transition from G1 to S cell phase: AMBRA1 specifically recognizes and binds phosphorylated cyclin-D (CCND1, CCND2 and CCND3), leading to cyclin-D ubiquitination by the DCX(AMBRA1) complex and subsequent degradation 12,13,14. By controlling the transition from G1 to S phase and cyclin-D degradation, AMBRA1 acts as a tumor suppressor that promotes genomic integrity during DNA replication and counteracts developmental abnormalities and tumor growth 15,16,17. AMBRA1 also regulates the cell cycle by promoting MYC dephosphorylation and degradation independently of the DCX(AMBRA1) complex: acts via interaction with the catalytic subunit of protein phosphatase 2A (PPP2CA), which enhances interaction between PPP2CA and MYC, leading to MYC dephosphorylation and degradation 18,19. Acts as a regulator of Cul5-RING (CRL5) E3 ubiquitin-protein ligase complexes by mediating ubiquitination and degradation of Elongin-C (ELOC) component of CRL5 complexes 20,21. Acts as a key regulator of autophagy by modulating the BECN1-PIK3C3 complex: controls protein turnover during neuronal development, and regulates normal cell survival and proliferation 22. In normal conditions, AMBRA1 is tethered to the cytoskeleton via interaction with dyneins DYNLL1 and DYNLL2 23. Upon autophagy induction, AMBRA1 is released from the cytoskeletal docking site to induce autophagosome nucleation by mediating ubiquitination of proteins involved in autophagy 24. The DCX(AMBRA1) complex mediates 'Lys-63'-linked ubiquitination of BECN1, increasing the association between BECN1 and PIK3C3 to promote PIK3C3 activity (By similarity). In collaboration with TRAF6, AMBRA1 mediates 'Lys-63'-linked ubiquitination of ULK1 following autophagy induction, promoting ULK1 stability and kinase activity 25. Also activates ULK1 via interaction with TRIM32: TRIM32 stimulates ULK1 through unanchored 'Lys-63'-linked polyubiquitin chains 26. Also acts as an activator of mitophagy via interaction with PRKN and LC3 proteins (MAP1LC3A, MAP1LC3B or MAP1LC3C); possibly by bringing damaged mitochondria onto autophagosomes 27,28. Also activates mitophagy by acting as a cofactor for HUWE1; acts by promoting HUWE1-mediated ubiquitination of MFN2 29. AMBRA1 is also involved in regulatory T-cells (Treg) differentiation by promoting FOXO3 dephosphorylation independently of the DCX(AMBRA1) complex: acts via interaction with PPP2CA, which enhances interaction between PPP2CA and FOXO3, leading to FOXO3 dephosphorylation and stabilization 30. May act as a regulator of intracellular trafficking, regulating the localization of active PTK2/FAK and SRC (By similarity). Also involved in transcription regulation by acting as a scaffold for protein complexes at chromatin (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Enables GTPase binding activity and ubiquitin protein ligase binding activity. Involved in macroautophagy; positive regulation of phosphatidylinositol 3-kinase activity; and response to mitochondrial depolarisation. Located in cytosol. Colocalizes with mitochondrion. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Apr 2022]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9C0C7 [Direct mapping] Activating molecule in BECN1-regulated autophagy protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9C0C7 [Direct mapping] Activating molecule in BECN1-regulated autophagy protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
E9PL55 [Direct mapping] Activating molecule in BECN1-regulated autophagy protein 1
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DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Q9C0C7 [Direct mapping] Activating molecule in BECN1-regulated autophagy protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Q9C0C7 [Direct mapping] Activating molecule in BECN1-regulated autophagy protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Q9C0C7 [Direct mapping] Activating molecule in BECN1-regulated autophagy protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000045[autophagosome assembly] GO:0000209[protein polyubiquitination] GO:0000422[autophagy of mitochondrion] GO:0000423[mitophagy] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005776[autophagosome] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0005930[axoneme] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006914[autophagy] GO:0007049[cell cycle] GO:0007399[nervous system development] GO:0008285[negative regulation of cell population proliferation] GO:0009267[cellular response to starvation] GO:0010508[positive regulation of autophagy] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0016567[protein ubiquitination] GO:0019903[protein phosphatase binding] GO:0021915[neural tube development] GO:0030154[cell differentiation] GO:0031410[cytoplasmic vesicle] GO:0031625[ubiquitin protein ligase binding] GO:0031667[response to nutrient levels] GO:0035307[positive regulation of protein dephosphorylation] GO:0043231[intracellular membrane-bounded organelle] GO:0043524[negative regulation of neuron apoptotic process] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0045335[phagocytic vesicle] GO:0045591[positive regulation of regulatory T cell differentiation] GO:0048471[perinuclear region of cytoplasm] GO:0051020[GTPase binding] GO:0070161[anchoring junction] GO:0080008[Cul4-RING E3 ubiquitin ligase complex] GO:0098780[response to mitochondrial depolarisation] GO:1901526[positive regulation of mitophagy] GO:1904544[positive regulation of free ubiquitin chain polymerization] GO:1990756[ubiquitin ligase-substrate adaptor activity] GO:2000045[regulation of G1/S transition of mitotic cell cycle]
The Human Protein Atlas project is funded
