Human Gene PSEN1 (ENST00000406768.1) Description and Page Index
Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E7ES96) RefSeq Summary (NM_007318): 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. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]. Gencode Transcript: ENST00000406768.1 Gencode Gene: ENSG00000080815.19 Transcript (Including UTRs) Position: hg38 chr14:73,167,829-73,220,401 Size: 52,573 Total Exon Count: 10 Strand: + Coding Region Position: hg38 chr14:73,170,986-73,219,289 Size: 48,304 Coding Exon Count: 9
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on E7ES96
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF h_appPathway - Generation of amyloid b-peptide by PS1 h_ps1Pathway - Presenilin action in Notch and Wnt signaling h_notchpathway - Proteolysis and Signaling Pathway of Notch h_erbB4pathway - g-Secretase mediated ErbB4 Signaling Pathway