🧬 基因注释：ATP6V1E1

官方名称：ATPase H+ transporting V1 subunit E1

功能摘要：This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008].

• RBFOX2 综合评分: 0.522 · 证据 2 条
• FUS 综合评分: 0.444 · 证据 1 条
• fus 综合评分: 0.444 · 证据 1 条
• PTBP1 综合评分: 0.424 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• MBNL2 综合评分: 0.374 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• PCBP2 综合评分: 0.344 · 证据 1 条
• EWSR1 综合评分: 0.312 · 证据 2 条
• RBM10 综合评分: 0.312 · 证据 2 条
• RBM15 综合评分: 0.312 · 证据 2 条
• Tardbp 综合评分: 0.310 · 证据 1 条
• Ptbp2 综合评分: 0.298 · 证据 1 条
• UPF1 综合评分: 0.296 · 证据 1 条
• U2af2 综合评分: 0.274 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• RBM39 综合评分: 0.250 · 证据 2 条
• CPSF6 综合评分: 0.248 · 证据 2 条

该基因暂无关联疾病记录