PSEN1
Encyclopedia
Presenilin-1 is a protein
that in humans is encoded by the PSEN1 gene
.
(AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2
) or 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.
with ICAM5
, UBQLN1
, Beta-catenin
, FLNB
, Glial fibrillary acidic protein
, Nicastrin
, CTNND1
, PKP4
, Bcl-2
and Calsenilin
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the PSEN1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
Alzheimer's diseaseAlzheimer's disease
Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
(AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2
PSEN2
Presenilin-2 is a protein that in humans is encoded by the PSEN2 gene.- Function :Alzheimer's disease patients with an inherited form of the disease carry mutations in the presenilin proteins or the amyloid precursor protein...
) or the amyloid precursor protein
Amyloid precursor protein
Amyloid precursor protein is an integral membrane protein expressed in many tissues and concentrated in the synapses of neurons. Its primary function is not known, though it has been implicated as a regulator of synapse formation, neural plasticity and iron export...
(APP). These disease-linked mutations result in increased production of the longer form of amyloid beta
Amyloid beta
Amyloid beta is a peptide of 36–43 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease...
(main component of amyloid
Amyloid
Amyloids are insoluble fibrous protein aggregates sharing specific structural traits. Abnormal accumulation of amyloid in organs may lead to amyloidosis, and may play a role in various neurodegenerative diseases.-Definition:...
deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma secretase
Gamma secretase
Gamma secretase is a multi-subunit protease complex, itself an integral membrane protein, that cleaves single-pass transmembrane proteins at residues within the transmembrane domain. Proteases of this type are known as intramembrane proteases...
, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor
Notch signaling
The notch signaling pathway is a highly conserved cell signaling system present in most multicellular organisms.Notch is present in all metazoans, and mammals possess four different notch receptors, referred to as NOTCH1, NOTCH2, NOTCH3, and NOTCH4. The notch receptor is a single-pass...
, such that they either directly regulate gamma secretase
Gamma secretase
Gamma secretase is a multi-subunit protease complex, itself an integral membrane protein, that cleaves single-pass transmembrane proteins at residues within the transmembrane domain. Proteases of this type are known as intramembrane proteases...
activity or themselves are protease
Protease
A protease is any enzyme that conducts proteolysis, that is, begins protein catabolism by hydrolysis of the peptide bonds that link amino acids together in the polypeptide chain forming the protein....
enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined.
Interactions
PSEN1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with ICAM5
ICAM5
Intercellular adhesion molecule 5 is a protein that in humans is encoded by the ICAM5 gene.-Further reading:...
, UBQLN1
UBQLN1
Ubiquilin-1 is a protein that in humans is encoded by the UBQLN1 gene.Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain...
, Beta-catenin
Beta-catenin
Beta-catenin is a protein that in humans is encoded by the CTNNB1 gene. In Drosophila, the homologous protein is called armadillo...
, FLNB
FLNB
Filamin B, beta , also known as FLNB, is a human cytoplasmic protein. It regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal...
, Glial fibrillary acidic protein
Glial fibrillary acidic protein
Glial fibrillary acidic protein is an intermediate filament protein that was thought to be specific for astrocytes in the central nervous system . Later, it was shown that GFAP is also expressed by other cell types in CNS, including ependymal cells...
, Nicastrin
Nicastrin
Nicastrin, also known as NCSTN, is a protein which in humans is encoded by the NCSTN gene.Nicastrin is a protein that is part of the gamma secretase protein complex, which is one of the proteases involved in processing amyloid precursor protein to the short Alzheimer's disease-associated peptide...
, CTNND1
CTNND1
Catenin delta-1 is a protein that in humans is encoded by the CTNND1 gene.-Interactions:CTNND1 has been shown to interact with Beta-catenin, FYN, Collagen, type XVII, alpha 1, PTPN6, YES1, PTPRJ, VE-cadherin, MUC1, CDH1, CDH2, PTPRM, Cortactin, Nephrin, ZBTB33 and PSEN1.-Further reading:...
, PKP4
PKP4
Plakophilin-4 is a protein that in humans is encoded by the PKP4 gene.-Interactions:PKP4 has been shown to interact with Erbin, PSEN1 and PDZD2.-Further reading:...
, Bcl-2
Bcl-2
Bcl-2 is the founding member of the Bcl-2 family of apoptosis regulator proteins encoded by the BCL2 gene. Bcl-2 derives its name from B-cell lymphoma 2, as it is the second member of a range of proteins initially described in chromosomal translocations involving chromosomes 14 and 18 in...
and Calsenilin
Calsenilin
Calsenilin is a protein that in humans is encoded by the KCNIP3 gene.-Interactions:Calsenilin has been shown to interact with PSEN1 and PSEN2.- External links :*...
.