Vps33a Gene Search Result

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1 records found for search term Vps33a

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
731826	VPS33A	VPS33A core subunit of CORVET and HOPS complexes	This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membr ... (more) ane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]	12	122229564	122266494	Human	269	symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]