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nicastrin (NCSTN, KIAA0253, UNQ1874/PRO4317)
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
General
glycoprotein
membrane protein
Properties
SIZE: entity length = 709 aa
MW = 78 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-33}
N-glycosylation site {N45}
N-glycosylation site {N55}
N-glycosylation site {N187}
N-glycosylation site {N200}
N-glycosylation site {N204}
N-glycosylation site {N264}
N-glycosylation site {N387}
N-glycosylation site {N417}
N-glycosylation site {N435}
N-glycosylation site {N464}
N-glycosylation site {N506}
N-glycosylation site {N530}
N-glycosylation site {N562}
N-glycosylation site {N573}
N-glycosylation site {N580}
N-glycosylation site {N612}
transmembrane domain {670-690}
Database Correlations
OMIM 605254
UniProt Q92542
Pfam PF05450
Entrez Gene 23385
Kegg hsa:23385
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: 10993067
- Entrez Gene :accession 23385
- UniProt :accession Q92542
Component-of
APP gamma-secretase