AMBRA1 [The Human Chemical-Genetic Interaction Map Project]

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======= AMBRA1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AMBRA1
  * **<color #00a2e8>Official Name</color>**: autophagy and beclin 1 regulator 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55626|55626]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9C0C7|Q9C0C7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AMBRA1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AMBRA1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611359|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  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 (By similarity). {ECO:0000250}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|WD40|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|mitophagy|
|response to mitochondrial depolarisation|
|negative regulation of cardiac muscle cell apoptotic process|
|selective autophagy|
|negative regulation of striated muscle cell apoptotic process|
|positive regulation of phosphatidylinositol 3-kinase activity|
|GTPase binding|
|positive regulation of lipid kinase activity|
|regulation of cardiac muscle cell apoptotic process|
|negative regulation of muscle cell apoptotic process|
|autophagy of mitochondrion|
|regulation of striated muscle cell apoptotic process|
|mitochondrion disassembly|
|positive regulation of phospholipid metabolic process|
|regulation of phosphatidylinositol 3-kinase activity|
|phagocytic vesicle|
|autophagosome assembly|
|regulation of lipid kinase activity|
|organelle disassembly|
|autophagosome organization|
|regulation of muscle cell apoptotic process|
|autophagosome|
|regulation of phospholipid metabolic process|
|axoneme|
|positive regulation of autophagy|
|vacuole organization|
|positive regulation of lipid metabolic process|
|negative regulation of neuron apoptotic process|
|cellular response to starvation|
|neural tube development|
|macroautophagy|
|mitochondrial outer membrane|
|response to starvation|
|regulation of neuron apoptotic process|
|negative regulation of neuron death|
|cellular response to nutrient levels|
|autophagy|
|process utilizing autophagic mechanism|
|cellular response to extracellular stimulus|
|ubiquitin protein ligase binding|
|regulation of neuron death|
|regulation of autophagy|
|cellular response to external stimulus|
|positive regulation of cellular catabolic process|
|regulation of lipid metabolic process|
|cellular component disassembly|
|positive regulation of catabolic process|
|mitochondrion organization|
|response to nutrient levels|
|response to extracellular stimulus|
|positive regulation of kinase activity|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|positive regulation of transferase activity|
|negative regulation of cell population proliferation|
|perinuclear region of cytoplasm|
|organelle assembly|
|regulation of cellular catabolic process|
|tube development|
|regulation of kinase activity|
|negative regulation of apoptotic process|
|negative regulation of programmed cell death|
|regulation of transferase activity|
|embryo development|
|negative regulation of cell death|
|regulation of catabolic process|
|positive regulation of phosphorylation|
|epithelium development|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|mitochondrion|
|positive regulation of catalytic activity|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of phosphorylation|
|regulation of cell population proliferation|
|regulation of cell death|
|cellular response to stress|
|tissue development|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|cellular catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp439|QNZ 0.01μM R08 exp439]]|-2.44|
|[[:results:exp303|39°C R06 exp303]]|-2.2|
|[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|-2.03|
|[[:results:exp512|Olaparib 4μM R08 exp512]]|-1.93|
|[[:results:exp199|Etoposide 0.3μM R05 exp199]]|-1.87|
|[[:results:exp210|LB-100 2μM R05 exp210]]|-1.78|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|-1.75|
|[[:results:exp147|Resveratrol 16μM R03 exp147]]|-1.73|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|-1.71|
|[[:results:exp4|Actinomycin-D 0.01μM R00 exp4]]|1.7|
|[[:results:exp245|UM0011500 5μM R05 exp245]]|1.76|
|[[:results:exp67|BVD-523 15μM R02 exp67]]|1.91|
|[[:results:exp326|CCT251545 20μM R07 exp326]]|2.24|
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|2.46|
|[[:results:exp502|Milciclib 2μM R08 exp502]]|2.81|
|[[:results:exp59|UMK57 1μM R01 exp59]]|3.39|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|4.42|
|[[:results:exp382|Palbociclib 1μM R07 exp382]]|8.38|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:arl14ep|ARL14EP]]|0.425|
|[[:human genes:s:setdb1|SETDB1]]|0.404|
|[[:human genes:c:cbx3|CBX3]]|0.403|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 8/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|2/28|
|bone|0/26|
|breast|1/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|1/20|
|lung|1/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|1/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1013
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.54 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AMBRA1 Expression in NALM6 Cells: 5.54'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>