NCSTN (nicastrin)

2007-04-01  

Identity

HGNC
LOCATION
1q23.2
LOCUSID
ALIAS
ATAG1874
FUSION GENES

Other Information

Locus ID:

NCBI: 23385
MIM: 605254
HGNC: 17091
Ensembl: ENSG00000162736

Variants:

dbSNP: 23385
ClinVar: 23385
TCGA: ENSG00000162736
COSMIC: NCSTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162736ENST00000294785Q92542
ENSG00000162736ENST00000368063A0A2U3TZL9
ENSG00000162736ENST00000421914Q5T209
ENSG00000162736ENST00000424645H0Y3Z4
ENSG00000162736ENST00000424754Q5T205
ENSG00000162736ENST00000435149H0Y6T7
ENSG00000162736ENST00000437169Q5T211
ENSG00000162736ENST00000438008Q5T210
ENSG00000162736ENST00000459963A0A2R8YCK1
ENSG00000162736ENST00000467837A0A2R8YE20

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Notch signaling pathwayKEGGko04330
Alzheimer's diseaseKEGGko05010
Notch signaling pathwayKEGGhsa04330
Alzheimer's diseaseKEGGhsa05010
Notch signalingKEGGhsa_M00682
Notch signalingKEGGM00682
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRIF signals cell death from the nucleusREACTOMER-HSA-205043
Regulated proteolysis of p75NTRREACTOMER-HSA-193692
Signaling by ERBB4REACTOMER-HSA-1236394
Nuclear signaling by ERBB4REACTOMER-HSA-1251985
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH1REACTOMER-HSA-1980143
Activated NOTCH1 Transmits Signal to the NucleusREACTOMER-HSA-2122948
Signaling by NOTCH2REACTOMER-HSA-1980145
NOTCH2 Activation and Transmission of Signal to the NucleusREACTOMER-HSA-2979096
Signaling by NOTCH3REACTOMER-HSA-1980148
Signaling by NOTCH4REACTOMER-HSA-1980150
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPH-ephrin mediated repulsion of cellsREACTOMER-HSA-3928665
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171927852007Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.609
126607852003The role of presenilin cofactors in the gamma-secretase complex.251
153220842004Association of gamma-secretase with lipid rafts in post-Golgi and endosome membranes.163
262803352015An atomic structure of human γ-secretase.146
209297272010Gamma-secretase gene mutations in familial acne inversa.76
122975082002Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.57
119437652002Presenilin 1 is required for maturation and cell surface accumulation of nicastrin.54
120482592002Presenilin and nicastrin regulate each other and determine amyloid beta-peptide production via complex formation.52
124710342003APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.47
190771152009Replication study of candidate genes for cognitive abilities: the Lothian Birth Cohort 1936.40

Citation

Dessen P

NCSTN (nicastrin)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46883/ncstn