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中文人类
INPP5E - Inositol Polyphosphate-5-phosphatase E
Alias:
CPD4
CORS1
JBTS1
MORMS
PPI5PIV
pharbin
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这个基因编码的蛋白质是一种肌醇1,4,5-三磷酸(InsP3)5-磷酸酶。InsP3 5-磷酸酶水解Ins(1,4,5)P3，从而调动细胞内钙并作为第二信使调节细胞对各种刺激的响应。研究小鼠的对应物表明，这个蛋白质可能会在细胞质高尔基膜上水解磷脂酰肌醇3,4,5-三磷酸和磷脂酰肌醇3,5-二磷酸，从而调节高尔基囊泡的转运。这个基因的突变导致Joubert综合征；这是一组临床和遗传上异质性疾病，以中脑-后脑畸形和包括视网膜营养不良、肾病变、肝纤维化和多指症在内的各种相关纤毛病为特征。可变剪接导致编码不同异型体的多种转录变异体。[由RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
INPP5E Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
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PMID
Journal
Year
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