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中文人类
PLCE1 - Phospholipase C Epsilon 1
Alias:
PLCE
PPLC
NPHS3
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这个基因编码一种磷酸脂酶酶，能催化磷脂酰肌醇-4,5-二磷酸酯水解，生成两种第二信使：肌醇1,4,5-三磷酸酯（IP3）和二酰基甘油（DAG）。这些第二信使随后调节各种影响细胞生长、分化和基因表达的过程。这个酶受到Ras和Rho家族的小单体GTP酶以及异源三聚G蛋白的调节。除了其磷酸脂酶C催化活性外，这个酶还具有一个具有鸟嘌呤核苷酸交换（GEF）活性的N-末端结构域。这个基因的突变导致早发性的肾病综合症；其特征是蛋白尿、水肿和弥漫性系膜硬化或局灶性节段性肾小球硬化。可变剪接产生了多种转录变异体，编码不同的异构体。[RefSeq，2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PLCE1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Regulation
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References Literature
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