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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
CDIPT - CDP-diacylglycerol--inositol 3-phosphatidyltransferase
Alias:
PIS
PIS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
磷脂酰肌醇降解产物是普遍存在的第二信使,在调节细胞生长、钙代谢和蛋白激酶C活性等许多G蛋白偶联受体和酪氨酸激酶的下游发挥作用。两种酶,CDP-二酸甘油酯合酶和磷脂酰肌醇合酶,参与磷脂酰肌醇的生物合成。磷脂酰肌醇合酶是CDP-醇磷脂酰转移酶I类家族的一员,是一种整合膜蛋白,存在于内质网的胞质侧和高尔基体中。已发现该基因编码不同异构体的几种转录变异体。[RefSeq,2013年11月提供]
Related ID:
NCBI:10423
ENSEMBL:ENSG00000103502
HGNC:1769
UNIPROT:O14735
OMIM:605893
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10423
3
6
4870 bp
23.54
12
--
4
7
CDIPT 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
PMID
Journal
Year
IF
No Data Found!
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