Gene details
Basic gene annotations are collected from Uniprot
and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser
is available.
APH1A - aph-1 homolog A, gamma-secretase subunit
Function
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, PubMed:30598546, PubMed:30630874). 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).
Uniprot BrowserEntrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
---|---|---|---|
51107 | ENSG00000117362 | APH1A | Q96BI3 |
Gene Regulons
A gene
can be associated with multiple causal flows
as a member of multiple regulons
Regulon | Program | # genes | # regulators | # causal flows |
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