AMBRA1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | AMBRA1 |
| Official Name | autophagy and beclin 1 regulator 1 [Source:HGNC Symbol;Acc:HGNC:25990] |
| Ensembl ID | ENSG00000110497 |
| Bio databases IDs | |
| Aliases | autophagy and beclin 1 regulator 1, WD repeat domain 94, DDB1 and CUL4 associated factor 3 |
| Synonyms | 2310079H06Rik, A130023A14, AMBRA, autophagy and beclin 1 regulator 1, autophagy/beclin 1 regulator 1, D030051N19Rik, DCAF3, mKIAA1736, Nyw1, WDR94 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AMBRA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- WD40 repeats
- protein phosphatase binding
- protein binding activity, bridging
- WD domain, G-beta repeat
- protein phosphatase regulator
- enzyme binding
- phosphatase activator
- protein binding
Pathways
Biological processes and signaling networks where the AMBRA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- schizophrenia
- neoplasia
- organismal death
- major depression
- tumorigenesis
- cancer
- migraines
- venous thromboembolism
- melanoma cancer
role in cell
- cell death
- fragmentation in
- apoptosis
- formation in
- expression in
- autophagy in
- formation
- phosphorylation in
- proliferation
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular structures
- cytoskeleton
- perinuclear region
- Nucleus
- Mitochondria
- axonemes
- cytosol
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AMBRA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- protein polyubiquitination
- negative regulation of cell proliferation
- cellular response to starvation
- macromitophagy
- regulation of transcription from RNA polymerase II promoter
- negative regulation of neuron apoptotic process
- autophagic vacuole assembly
- positive regulation of regulatory T cell differentiation
- positive regulation of autophagy
- proteasomal ubiquitin-dependent protein catabolic process
- cell differentiation
- regulation of G1/S transition of mitotic cell cycle
- positive regulation of protein dephosphorylation
- negative regulation of cardiac muscle cell apoptotic process
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- phagocytic vesicle
- endoplasmic reticulum
- mitochondrial outer membrane
- autophagic vacuole
- CUL4 RING ubiquitin ligase complex
- axoneme
- nucleus
- cytoskeleton
- perinuclear region of cytoplasm
- focal adhesion
- cytoplasm
- intracellular membrane-bounded organelle
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein phosphatase binding
- protein binding
- ubiquitin protein ligase binding
- GTPase binding