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研究背景

This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009],caution:Was wrongly assigned as myoneurin (Ref.2).,disease:Genetic variations in PALLD are associated with susceptibility to pancreatic cancer type 1 (PNCA1) [MIM:606856]. Expression is increased early in the development of pancreatic cancer: in normal-appearing whole tissue immediately adjacent to cancer, in the pre-cancer, and in both the familial and sporadic forms of the cancer.,disease:Genetic variations in PALLD may be associated with myocardial infarction.,function:Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci.,induction:Isoform 3 is expressed de novo and isoform 4 is up-regulated by TGFB1 during myofibroblast differentiation.,miscellaneous:Protein is overexpressed in FA6, HPAF, IMIMPC2, SUIT2 and PATU2 sporadic pancreatic cancer cell lines.,PTM:Phosphorylated predominantly on serines and, to a lesser extent, on tyrosines (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the myotilin/palladin family.,similarity:Contains 5 Ig-like C2-type (immunoglobulin-like) domains.,subcellular location:Localizes to stress fibers and Z-disks. Cell junction, focal adhesion. Cell projection, ruffle. Cell projection, lamellipodium.,subunit:Interacts with EPS8, LASP1 and VASP (By similarity). Interacts with ACTN, ARGBP2, LPP, PFN1, SPIN90, SRC and EZR.,tissue specificity:Detected in both muscle and non-muscle tissues. High expression in prostate, ovary, colon, and kidney. Not detected in spleen, skeletal muscle, lung and peripheral blood lymphocytes (at protein level).,

研究领域

Tags & Cell Markers; Subcellular Markers; Cytoskeleton; Actin; Signal Transduction; Cytoskeleton / ECM; Microfilaments; Actin etc; Actin Crosslinking; Actin Binding Proteins; Actin Assembly