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This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed p

This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential t

The docking of transport vesicles to their target membrane is mediated by p115. GM130, a cis-Golgi matrix protein, interacts specifically with p115 and provides a membrane docking site. Both GM130 and p115 are involved in vesicle tethering to Golgi membranes. The amino-terminus of GM130 binds to p115, whereas the carboxy-terminus binds to Golgi membranes. Both Giantin and GM130 compete for binding to p115. Thus, p115-Giantin and p115-GM130 interactions might mediate independent membrane tet

Plectin interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the crosslinking and stabilization of cytoskeletal intermediate filaments network, but also in the regulation of their dynamics.

SNF5 is involved in transcriptional activation. The SWI/SNF complex is required for the induced expression of a large number of genes. This complex alters chromatin structure to facilitate binding of gene-specific dedicated transcription factors. SNF5 also funtions as a tumor suppressor gene and is frequently mutated in malignant rhabdoid tumors. It is also involved in adipocyte differentiation.