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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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ATP13A5 - ATPase 13A5
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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P-型运输ATP酶P5亚家族的成员。P-型ATP酶是一个大型的阳离子和脂质泵超级家族,可以在细胞膜上运输无机阳离子和其他底物。P5 ATP酶位于内质网(ER)膜上,具有许多重要功能,包括将货载蛋白运输到高尔基体、糖基化和细胞壁生物合成、控制蛋白质插入方向、3-羟基-3-甲基戊酸辅酶A还原酶(HMGR)降解以及感受未折叠蛋白应答(UPR)激活剂的敏感性。编码的蛋白质由三个胞质结构域(A、P和N)和两个嵌入膜的结构域(T和S)组成。N结构域结合ATP并作为内置的蛋白激酶,对P结构域进行磷酸化。A结构域是一个内在蛋白磷酸酶,在每个催化循环中一次去磷酸化P结构域。[由RefSeq,2017年7月提供]
Related ID:
NCBI:344905
ENSEMBL:ENSG00000187527
HGNC:31789
UNIPROT:Q4VNC0
OMIM:619119
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
344905
4
30
103965 bp
137.33
42
--
3
3
ATP13A5 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
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CAS Number
Status
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Link
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References Literature
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