Description

IPR042524 is a Presenilin, C-terminal.

<p>This superfamily represents the C-terminal region of aspartic peptidases belonging to the MEROPS peptidase family A22 (presenilin family), subfamily A22A, the type example being presenilin 1 from Homo sapiens (Human).</p> <p>Presenilins are polytopic transmembrane (TM) proteins, mutations in which are associated with the occurrence of early-onset familial Alzheimer's disease, a rare form of the disease that results from a single-gene mutation [[cite:PUB00000974], [cite:PUB00002010]]. Alzheimer's disease is associated with the formation of extracellular deposits of amyloid, which contain aggregates of the amyloid-beta peptide. The β-peptides are released from the Alzheimer's amyloid precursor protein (APP) by the action of two peptidase activities: "beta-secretase" cleaves at the N terminus of the peptide, and "gamma-secretase" cleaves at the C terminus. The gamma-secretase cleavage occurs in a transmembrane segment of APP. Presenilin, which exists in a complex with nicastrin, APH-1 and PEN-2, has been identified as gamma-secretase from its deficiency [[cite:PUB00076827]] and mutation of its active site residues [[cite:PUB00076830]], but proteolytic activity has only been directly demonstrated on a peptide derived from APP [[cite:PUB00076827]].</p> <p>Presenilin-1 is also known to process notch proteins [[cite:PUB00076831]] and syndecan-3 [[cite:PUB00076832]].</p> <p>Presenilin has nine transmembrane regions with the active site aspartic acid residues located on TM6, within a Tyr-Asp motif, and TM7, within a Gly-Xaa-Gly-Asp motif [[cite:PUB00076830]]. The protein autoprocesses to form an amino-terminal fragment (TMs 1-6) and a C-terminal fragment (TMs 7-9) [[cite:PUB00076829]]. The tertiary structure of the human gamma-sectretase complex has been solved [[cite:PUB00076828]]. Nicastrin is extracellular, whereas presenilin-1, APH-1 and PEN-2 are all transmembrane proteins. The transmembrane regions of all three proteins form a horseshoe shape.</p>

This description is obtained from EB-eye REST.

Associated GO terms

Unable to find any GO terms for the transcript with the identifier.

Associated Lotus transcripts 2

Co-occuring domains 1

A list of co-occurring predicted domains within the L. japonicus gene space: