AutismKB 2.0

Annotation Details for NCSTN


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NCSTN ( APH2,KIAA0253 )
Gene Full Name: nicastrin
Band: 1q23.2
Quick LinksEntrez ID:23385; OMIM: 605254; Uniprot ID:NICA_HUMAN; ENSEMBL ID: ENSG00000162736; HGNC ID: 17091
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005765IDA-lysosomal membrane17897319
GO:0005783IDA-endoplasmic reticulum15274632
GO:0005783ISS-endoplasmic reticulum-
GO:0005794IDA-Golgi apparatus15274632
GO:0005794ISS-Golgi apparatus-
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane15274632
GO:0005887ISS-integral component of plasma membrane-
GO:0005925IDA-focal adhesion21423176
GO:0016020IDA-membrane19946888
GO:0016021IDA-integral component of membrane25043039
GO:0016021NAS-integral component of membrane10993067
GO:0035577TAS-azurophil granule membrane-
GO:0042470IEA-melanosome-
GO:0070062IDA-extracellular exosome19056867
GO:0070765IDA-gamma-secretase complex25043039
GO ID Evidence Qualifier GO_term References
GO:0004175IBA-endopeptidase activity-
GO:0005515IPI-protein binding12297508
GO ID Evidence Qualifier GO_term References
GO:0002262IEA-myeloid cell homeostasis-
GO:0006508NAS-proteolysis10993067
GO:0006509IDA-membrane protein ectodomain proteolysis15274632
GO:0006509ISS-membrane protein ectodomain proteolysis-
GO:0007219TAS-Notch signaling pathway-
GO:0007220TAS-Notch receptor processing15274632
GO:0016485IDA-protein processing15274632
GO:0016485ISS-protein processing-
GO:0031293TAS-membrane protein intracellular domain proteolysis-
GO:0034205IMP-amyloid-beta formation25043039
GO:0042098IEA-T cell proliferation-
GO:0042982IDA-amyloid precursor protein metabolic process25043039
GO:0042987TAS-amyloid precursor protein catabolic process15274632
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043085IDA-positive regulation of catalytic activity15274632
GO:0043085ISS-positive regulation of catalytic activity-
GO:0043312TAS-neutrophil degranulation-
GO:0048013TAS-ephrin receptor signaling pathway-
GO:0050673IEA-epithelial cell proliferation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NCSTNAPP10684810993067 Affinity Capture-Western
NCSTNAPP11696110993067 Affinity Capture-Western
NCSTNPSEN111696110993067 12297508 12471034 14572442 15257293 Affinity Capture-Western
NCSTNPSEN111164210993067 12297508 12471034 14572442 15257293 Affinity Capture-Western
NCSTNPSEN211696110993067 12297508 Affinity Capture-Western
NCSTNPSEN211164310993067 12297508 Affinity Capture-Western
BACE1NCSTN11696112054507 Reconstituted Complex
BACE1NCSTN11715412054507 Reconstituted Complex
PSENENNCSTN11696112198112 14572442 Affinity Capture-Western
PSENENNCSTN12095312198112 14572442 Affinity Capture-Western
APH1ANCSTN11696112297508 12471034 12857757 14572442 15257293 Affinity Capture-Western; Co-fractionation
APH1ANCSTN11929612297508 12471034 12857757 14572442 15257293 Affinity Capture-Western; Co-fractionation
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
NCSTN 13 intron 9, 3'UTR 2514, E79E, N417Y, rs10494342, rs10752637, rs12239747, rs1324738, rs17370539, rs2038781, rs2147471, rs2274185, rs4656256, rs6427515, rs6664627, rs6668576, rs7528638 Gene overview in AlzGene
No data
Gene Symbol Poly Names Gene overview in SZGene
NCSTNrs1802778, rs4656256 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1891700
  • Data Attributes: MGI curated and HomoloGene calculated
No data