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The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [7]
n/a Ensembl ENSG00000152291 n/a UniProt O43493 n/a RefSeq (mRNA) NM_006464 NM_001206840 NM_001206841 NM_001206844 NM_001368095 NM_001368096 n/a RefSeq (protein) NP_001193769 NP_001193770 NP_001193773 NP_006455 NP_001355024 NP_001355025 n/a Location (UCSC) Chr 2: 85.32 – 85.33 Mb n/a PubMed search n/a Wikidata View/Edit Human Trans-Golgi network integral membrane protein 2 is a protein that ...
Protein targeting or protein sorting is the biological mechanism by which proteins are transported to their appropriate destinations within or outside the cell. [ 1 ] [ 2 ] [ note 1 ] Proteins can be targeted to the inner space of an organelle , different intracellular membranes , the plasma membrane , or to the exterior of the cell via secretion .
VPS35 binds with other proteins to form the retromer, an evolutionarily conserved complex that plays a major role in transmembrane protein recycling from endosomes to the trans-Golgi network . [1] [6] [7] [8] VPS35 itself folds into a secondary structure that represents an α-helical solenoid, containing 34 α-helix repeats. [16]
As well as the location of the cis and trans Golgi network. The cis Golgi network is the first step in the cisternal structure of a protein being packaged, while the trans Golgi network is the last step in the cisternal structure when the vesicle is being transferred to either the lysosome, the cell surface or the secretory vesicle.
SORL1 (also known as SORLA, SORLA1, or LR11; SORLA or SORL1 are used, often interchangeably, for the protein product of the SORL1 gene) is a 2214 residue type I transmembrane protein receptor that binds certain peptides and integral membrane protein cargo in the endolysosomal pathway and delivers them for sorting to the retromer multi protein ...
The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternative splice variants have been described but their full-length nature has not been determined. [6]
Retromer is a complex of proteins that has been shown to be important in recycling transmembrane receptors from endosomes to the trans-Golgi network (TGN) and directly back to the plasma membrane. Mutations in retromer and its associated proteins have been linked to Alzheimer's and Parkinson's diseases.