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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
INPP5K - Inositol Polyphosphate-5-phosphatase K
Alias:
PPS
SKIP
MDCCAID
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有5-磷酸酶活性的蛋白质,可以分解多磷酸肌醇。该蛋白质定位在细胞质中,位于缺乏肌动蛋白应力纤维的区域。人们认为这个蛋白质可能负调控肌动蛋白细胞骨架。已经发现了编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年10月提供]
Related ID:
NCBI:51763
ENSEMBL:ENSG00000132376
HGNC:33882
UNIPROT:Q9BT40
OMIM:607875
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51763
6
12
22036 bp
51.09
81
2
7
9
INPP5K 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
Detail
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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
Phase
Link
No data available
References Literature
Title
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Year
IF
No Data Found!
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