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APH1A (Gamma-secretase subunit APH-1A) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.
Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Required for normal gamma-secretase assembly. The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.
In plain words · APH1A (Gamma-secretase subunit APH-1A) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.
APH1A (Gamma-secretase subunit APH-1A) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.
Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein).
No product in this corpus aims at APH1A yet. Drugs bind the molecule precisely: to switch it off, flag the cell for the immune system, or deliver a payload.
Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA APH1A: RNA low tissue specificity; high antibody staining in 30 normal tissues; highest cancer staining carcinoid (4 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (Rule 7 of scripts/fetch-target-specificity.ts.)
Sources: Human Protein Atlas APH1A tissue; Open Targets ENSG00000117362 associations
First described 2000. Earliest sequence paper UniProt cites for the protein: Lai C.-H. et al, Genome Res, 2000, "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Source.
Sources: HGNC HGNC:29509 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q96BI3 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000117362 (per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0))
Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Required for normal gamma-secretase assembly. The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Location: Endoplasmic reticulum membrane; Golgi apparatus, Golgi stack membrane (UniProt). Locus 1q21.2 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adipose tissue, Caudate, Cerebellum, Cerebral cortex, Cervix, Fallopian tube, Heart muscle, Hippocampus.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"APH1A" OR ABSTRACT:"APH1A" OR TITLE:"aph-1A gamma-secretase subunit" OR ABSTRACT:"aph-1A gamma-secretase subunit" OR TITLE:"Gamma-secretase subunit APH-1A" OR ABSTRACT:"Gamma-secretase subunit APH-1A" OR TITLE:"APH-1A" OR ABSTRACT:"APH-1A" OR TITLE:"CGI-78" OR ABSTRACT:"CGI-78") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about APH1A, not a curated reading list.
Shares Desmoid tumour, Open Targets Platform.
Shares Desmoid tumour, Open Targets Platform.
Shares Desmoid tumour, Open Targets Platform.
Shares Desmoid tumour, Open Targets Platform.