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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
ATP6V0A1 - ATPase H+ Transporting V0 Subunit A1
Alias:
a1
Stv1
VPP1
Vph1
ATP6N1
DEE104
NEDEBA
ATP6N1A
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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。这个基因编码三个A亚基蛋白中的一个,并且编码的蛋白质与氯素包被的囊泡相关。已经为这个基因发现了编码不同异构体的三种转录变体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:535
ENSEMBL:ENSG00000033627
HGNC:865
UNIPROT:Q93050
OMIM:192130
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
535
33
22
63702 bp
96.41
36
3
9
14
ATP6V0A1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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