Literature associating CPNE1 and nemaline myopathy 4
CPNE1 [ENSP00000317257]
Copine-1; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes . Involved in the TNF-alpha receptor signaling pathway in a calcium- dependent manner . Exhibits calcium-dependent phospholipid binding properties . Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium- independent manner . May recruit target proteins to the cell membrane in a calcium-dependent manner . May function in membrane trafficking . Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit . Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL . ECO:0000269|PubMed:18212740, ECO:0000269|PubMed:19539605, ECO:0000269|PubMed:23263657, ECO:0000269|PubMed:25450385,; Belongs to the copine family.
Synonyms: CPNE1, CPNE1p, hCPNE1, A6PVH9, B0QZ18 ...