nicastrin (NCSTN, KIAA0253, UNQ1874/PRO4317)
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Function
- subunit of the APP gamma-secretase
- probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex
- interacts with presenilins 1 & 2
- role in presenilin mediated processing of APP gamma-secretase & notch signalling
- binds to proteolytic processed C-terminal fragments C83 & C99 of the amyloid precursor protein (APP)
Structure
- type 1 transmembrane glycoprotein
- belongs to the nicastrin family
Compartment
- membrane; type 1 membrane protein
Alternative splicing
named isoforms=2
Expression
- widely expressed
- constitutively expressed in neural cells
Pathology
- one of 3 components of APP gamma-secretase complex in which haploinsufficiency is associated with hidradenitis suppurativa
More general terms
Component of
References
- ↑ Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song YQ, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang DS, Holmes E, Milman P, Liang Y, Zhang DM, Xu DH, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer LS, Sorbi S, Bruni A, Fraser P, St George-Hyslop P. Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature. 2000 Sep 7;407(6800):48-54. PMID: https://www.ncbi.nlm.nih.gov/pubmed/10993067
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23385
- ↑ UniProt http://www.uniprot.org/uniprot/Q92542.html