🧬 基因注释：VPS33A

官方名称：VPS33A core subunit of CORVET and HOPS complexes

功能摘要：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 membrane 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].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPH1 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.398 · 证据 1 条
• fus 综合评分: 0.398 · 证据 1 条
• HNRNPL 综合评分: 0.362 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• ELAVL3 综合评分: 0.260 · 证据 1 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• Tardbp 综合评分: 0.212 · 证据 1 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Rnps1 综合评分: 0.198 · 证据 1 条
• UPF1 综合评分: 0.162 · 证据 1 条
• YBX1 综合评分: 0.162 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• CPSF6 综合评分: 0.150 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• CSTF2 综合评分: 0.150 · 证据 2 条

该基因暂无关联疾病记录