APH1A [The Human Chemical-Genetic Interaction Map Project]

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======= APH1A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: APH1A
  * **<color #00a2e8>Official Name</color>**: aph-1 homolog A, gamma-secretase subunit
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=51107|51107]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96BI3|Q96BI3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=APH1A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20APH1A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607629|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522139, PubMed:12763021, PubMed:12679784, PubMed:25043039, PubMed:26280335). Required for normal gamma- secretase assembly (PubMed:12522139, PubMed:12471034, PubMed:12763021, PubMed:19369254). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). {ECO:0000269|PubMed:12297508, ECO:0000269|PubMed:12471034, ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12679784, ECO:0000269|PubMed:12763021, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000305}.

<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'>
|Aph-1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|amyloid-beta formation|
|Notch receptor processing, ligand-dependent|
|gamma-secretase complex|
|Notch receptor processing|
|amyloid precursor protein catabolic process|
|amyloid precursor protein metabolic process|
|amyloid-beta metabolic process|
|membrane protein intracellular domain proteolysis|
|membrane protein ectodomain proteolysis|
|membrane protein proteolysis|
|integral component of presynaptic membrane|
|endopeptidase activity|
|metanephros development|
|ephrin receptor signaling pathway|
|Golgi cisterna membrane|
|synaptic vesicle|
|Notch signaling pathway|
|protein processing|
|endosome membrane|
|protein maturation|
|early endosome|
|kidney development|
|renal system development|
|urogenital system development|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|peptide metabolic process|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|positive regulation of cell death|
|enzyme linked receptor protein signaling pathway|
|cellular amide metabolic process|
|endoplasmic reticulum membrane|
|Golgi apparatus|
|endoplasmic reticulum|
|mitochondrion|
|proteolysis|
|integral component of plasma membrane|
|positive regulation of catalytic activity|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of cell death|
|positive regulation of molecular function|
|membrane|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' 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:exp272|CHIR-124 0.04μM R06 exp272]]|-2.05|
|[[:results:exp312|2-Methoxyestradiol 0.55 to 1μM on day4 R07 exp312]]|1.8|
|[[:results:exp3|Actinomycin-D 0.001μM R00 exp3]]|1.88|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|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>**: 5263
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.32 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='APH1A Expression in NALM6 Cells: 6.32'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>