PSEN1

From Wikipedia, the free encyclopedia

Presenilin 1 (Alzheimer disease 3)

Identifiers

PSEN1; FAD; AD3; PS1; S182

External IDs

OMIM: 104311 MGI: 1202717 HomoloGene: 7186

Gene ontology
Molecular Function:	• endopeptidase activity • protein binding
Cellular Component:	• kinetochore • intracellular • membrane fraction • nucleus • integral to nuclear inner membrane • mitochondrion • endoplasmic reticulum • Golgi apparatus • integral to plasma membrane • membrane • axon • dendrite • cytoplasmic vesicle • ciliary rootlet • cell soma
Biological Process:	• blood vessel development • cell fate specification • neuron migration • membrane protein ectodomain proteolysis • cellular calcium ion homeostasis • apoptosis • anti-apoptosis • chromosome organization and biogenesis (sensu Eukaryota) • chromosome segregation • cell adhesion • Notch receptor processing • intracellular signaling cascade • heart development • memory • protein processing • embryonic limb morphogenesis • regulation of phosphorylation • anagen • amyloid precursor protein catabolic process • positive regulation of apoptosis • positive regulation of enzyme activity • positive regulation of protein kinase activity • smooth endoplasmic reticulum calcium ion homeostasis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000021 (mRNA)
NP_000012 (protein)

NM_008943 (mRNA)
NP_032969 (protein)

Location

Chr 14: 72.67 - 72.76 Mb

Chr 12: 84.58 - 84.62 Mb

Pubmed search

[1]

[2]

Presenilin 1 (Alzheimer disease 3), also known as PSEN1, is a human gene.

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma secretase activity or themselves are protease enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined.^[1]

[edit] References

^ Entrez Gene: PSEN1 presenilin 1 (Alzheimer disease 3).

[edit] Further reading

Cruts M, Hendriks L, Van Broeckhoven C (1997). "The presenilin genes: a new gene family involved in Alzheimer disease pathology.". Hum. Mol. Genet. 5 Spec No: 1449–55. PMID 8875251.
Cruts M, Van Broeckhoven C (1998). "Presenilin mutations in Alzheimer's disease.". Hum. Mutat. 11 (3): 183–90. doi:10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J. PMID 9521418.
Larner AJ, Doran M (2006). "Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.". J. Neurol. 253 (2): 139–58. doi:10.1007/s00415-005-0019-5. PMID 16267640.
Wolfe MS (2007). "When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease.". EMBO Rep. 8 (2): 136–40. doi:10.1038/sj.embor.7400896. PMID 17268504.
De Strooper B (2007). "Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease.". EMBO Rep. 8 (2): 141–6. doi:10.1038/sj.embor.7400897. PMID 17268505.