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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
ATP6V1F - ATPase H+ Transporting V1 Subunit F
Alias:
VATF
Vma7
ATP6S14
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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体编码。这个编码的蛋白质是V1结构F亚基蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9296
ENSEMBL:ENSG00000128524
HGNC:16832
UNIPROT:Q16864
OMIM:607160
Basic Information
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Exons
Length
MW (kDa)
Mutations
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Reference
9296
2
2
2992 bp
13.37
6
--
3
8
ATP6V1F Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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