NPC1, dnpc1a, Niemann-Pick Type C-1
a transmembrane protein related to the Hedgehog receptor Patched - mutants have a shortage of sterol, and, as a consequence, inadequate ecdysone synthesis - required in the maintenance of neuronal function and viability - loss of NPC1a in neurons mimics the human Niemann-Pick disease type C neurodegenerative condition
Gene model reviewed during 5.52
Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\Npc1a using the Feature Mapper tool.
GBrowse - Visual display of RNA-Seq signalsView Dmel\Npc1a in GBrowse 2
Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete
Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see GBrowse for alignment of the cDNAs and ESTs to the gene model.
For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.
Source for identity of: Npc1a NPC1
Npc1a mutants rescued to adults by restoration of ecdysone production mimic human NPC patients with progressive motor defects and reduced life spans. Npc1a mutant brains reveal age-progressive accumulation of multilamellar and multivescicular organelles, preceding the onset of neurodegeneration.
The LD15757 cDNA clone contains a complete NPC1 open reading frame along with contaminating bacterial sequence.
dsRNA made from templates generated with primers directed against this gene tested in RNAi screen for effects on Kc167 and S2R+ cell morphology.