{"entity":{"id":"aph1a","kind":"target","name":"APH1A","aka":["aph-1A gamma-secretase subunit","Gamma-secretase subunit APH-1A","APH-1A","CGI-78"],"tldr":"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.","summary":"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.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29509"},{"label":"UniProt Q96BI3","url":"https://www.uniprot.org/uniprotkb/Q96BI3/entry"},{"label":"NCBI Gene 51107","url":"https://www.ncbi.nlm.nih.gov/gene/51107"},{"label":"Ensembl ENSG00000117362","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117362"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"APH1A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:29509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29509","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96BI3","url":"https://www.uniprot.org/uniprotkb/Q96BI3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000117362","url":"https://platform.opentargets.org/target/ENSG00000117362/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0)"}],"hgnc":"HGNC:29509","ensembl":"ENSG00000117362","uniprot":"Q96BI3","entrez":"51107","biology":"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).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"other","prevalence":[]},"route":"/targets/aph1a/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"desmoid-tumour","kind":"cancer","name":"Desmoid tumour","route":"/cancers/desmoid-tumour/"}]}}