PSEN1 (presenilin 1)

2007-04-01  

Identity

HGNC
LOCATION
14q24.2
LOCUSID
ALIAS
ACNINV3,AD3,FAD,PS-1,PS1,S182
FUSION GENES

Other Information

Locus ID:

NCBI: 5663
MIM: 104311
HGNC: 9508
Ensembl: ENSG00000080815

Variants:

dbSNP: 5663
ClinVar: 5663
TCGA: ENSG00000080815
COSMIC: PSEN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080815ENST00000324501P49768
ENSG00000080815ENST00000324501A0A024R6A3
ENSG00000080815ENST00000357710P49768
ENSG00000080815ENST00000357710A0A0S2Z4D2
ENSG00000080815ENST00000394157P49768
ENSG00000080815ENST00000394164P49768
ENSG00000080815ENST00000394164A0A0S2Z4D2
ENSG00000080815ENST00000406768E7ES96
ENSG00000080815ENST00000553599G3V2B1
ENSG00000080815ENST00000553719G3V499
ENSG00000080815ENST00000553855P49768
ENSG00000080815ENST00000554131G3V4P4
ENSG00000080815ENST00000555254G3V2G7
ENSG00000080815ENST00000555386P49768
ENSG00000080815ENST00000556011G3V490
ENSG00000080815ENST00000556066G3V5B1
ENSG00000080815ENST00000556533G3V519
ENSG00000080815ENST00000556864G3V449
ENSG00000080815ENST00000556951G3V2B1
ENSG00000080815ENST00000557037G3V3P0
ENSG00000080815ENST00000557293G3V4M0
ENSG00000080815ENST00000557356G3V3Z0
ENSG00000080815ENST00000557511P49768
ENSG00000080815ENST00000559361H0YNU4
ENSG00000080815ENST00000560005H0YM52

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Notch signaling pathwayKEGGko04330
Alzheimer's diseaseKEGGko05010
Wnt signaling pathwayKEGGhsa04310
Notch signaling pathwayKEGGhsa04330
Alzheimer's diseaseKEGGhsa05010
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
Notch signalingKEGGhsa_M00682
Notch signalingKEGGM00682
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
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
146452052004Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase.478
205412502010Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations.397
126607852003The role of presenilin cofactors in the gamma-secretase complex.251
136785862003A CBP binding transcriptional repressor produced by the PS1/epsilon-cleavage of N-cadherin is inhibited by PS1 FAD mutations.182
185790782008Mechanism of Ca2+ disruption in Alzheimer's disease by presenilin regulation of InsP3 receptor channel gating.180
153220842004Association of gamma-secretase with lipid rafts in post-Golgi and endosome membranes.163
225050252012The mechanism of γ-Secretase dysfunction in familial Alzheimer disease.154
263128282016The genetic landscape of Alzheimer disease: clinical implications and perspectives.153
175539892007Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.146

Citation

Dessen P

PSEN1 (presenilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47223/psen1