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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
ATP5MC1 - ATP Synthase Membrane Subunit C Locus 1
Alias:
ATP5A
ATP5G
ATP5G1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码线粒体ATP合酶的一个亚基。线粒体ATP合酶催化ATP合成,在氧化磷酸化过程中利用跨内膜的质子电化学梯度。ATP合酶由两个连接的多亚基复合体组成:可溶的催化核心F1和跨膜成分Fo,包括质子通道。线粒体ATP合酶的催化部分由5个不同的亚基(α,β,γ,δ和ε)组成,其组成比例为3个α,3个β,以及其他3个的代表性单个亚基。质子通道似乎有9个亚基(a,b,c,d,e,f,g,F6和8)。这个基因是编码质子通道的3个基因之一。这三个基因具有不同的线粒体导入序列,但编码相同的成熟蛋白质。已经识别出编码相同蛋白质的可选剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:516
ENSEMBL:ENSG00000159199
HGNC:841
UNIPROT:P05496
OMIM:603192
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
516
2
5
3085 bp
14.28
1
--
4
9
ATP5MC1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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