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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
ATP6V0E1 - ATPase H+ Transporting V0 Subunit E1
Alias:
M9.2
ATP6H
Vma21
Vma21p
ATP6V0E
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个泡囊ATP酶(V-ATPase)的成分,这是一个调节真核细胞内器官酸化的多亚基酶。V-ATPase依赖的器官酸化对于诸如蛋白质分选、酶原激活、受体介导的内吞作用和突触囊泡质子梯度生成等细胞内过程是必要的。V-ATPase由细胞质V1结构和跨膜V0结构组成。V1结构由三个A和三个B亚基,两个G亚基以及C、D、E、F和H亚基组成。V1结构包含ATP催化位点。V0结构由五个不同的亚基组成:a、c、c'、c"和d。许多V1和V0亚基蛋白的额外异构体由多个基因或可选的剪接转录变异体编码。这个编码的蛋白质可能是V0亚基的一部分。由于在狗中已经发现了两个非转录假基因,这个基因在染色体2上的定位可能代表了一个假基因。基因组图谱将染色体位置放在5q35.3上。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8992
ENSEMBL:ENSG00000113732
HGNC:863
UNIPROT:O15342
OMIM:603931
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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8992
1
4
51675 bp
9.37
2
--
1
5
ATP6V0E1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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