]> Lses v. 1.2 en Life Science Entities ontology Paolo Ciccarese Elizabeth Wu Alan Ruttenberg Tim Clark Marco Ocana Gwen Wong Elizabeth Wu June Kinoshita http://swan.mindinformatics.org January 13, 2009 rdf/xml Gene variants include missense, deletion, etc. mutations that are heritable allelic variations of a wild type DNA sequence located at a single chromosomal locus (examples: APP, PS1, ApoE, tau). Gene variants also include splice variant cDNAs of a single gene that encode different length proteins derived from the same DNA sequence (examples APP, tau). Gene variants also include homologues of genes, that are located at different chromosomal loci (examples include Aph-1a and Aph-1b, Notch 1,2, 3, 4). Protein variants include proteins translated from all various length mRNAs that are transcribed from a single gene. This includes proteins that use alternative exon encoded sequences. Proteins variants include all translated protein products from all splice variant mRNAs of a single gene (example: APP770, APP751, APP714, APP695). Proteins translated from any mRNA transcribed from a single gene. Multiprotein complexes are groups of two or more associated proteins formed by protein-protein interaction that is stable over time. Example includes gamma secretase which is a stable complex formed by the association of Presenilin-1 or Presenilin-2 proteins associated with APH-1a or APH-1b proteins, with nicastrin and PEN-2 proteins. A second example includes stable Abeta soluble complexes, fibrils, beta sheets. Proteins derived from proteins include all post-translationally modified versions of the same protein. This includes Abeta peptide cleaved from APP, hyperphosphorylated tau, Notch intracellular domain cleaved from Notch. Gene orthologs are evolutionarily conserved homologous genes from disparate species. Examples include human presenilin vs. C. elegans SEL-12, human notch vs. C. elegans LIN-12, human nicastrin vs. C. elegans APH-2. 1 1 1 1 1 1 1 1 Specific sequences of nucleotides along a molecule of DNA (or, in the case of some viruses, RNA) which represent functional units of heredity. Most eukaryotic genes contain a set of coding regions (exons) that are spliced together in the transcript, after removal of intervening sequence (introns) and are therefore labeled split genes. Linear polypeptides that are synthesized on ribosomes and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of amino acids determines the shape the polypeptide will take, during protein folding, and the function of the protein. Macromolecular complexes formed from the association of defined protein subunits. An individual form of life, defined at the species or subspecies level; such as Homo sapiens, Mus musculus, Danio rerio, Saccharoyces cereviseae, or Arabidopsis thaliana. Location of gene 1 1 1 1 1 1 1 1 1 1 1