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中文人类
DEPDC5 - DEP Domain Containing 5, GATOR1 Subcomplex Subunit
Alias:
DEP.5
FFEVF
FPEVF
FFEVF1
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这个基因编码IML1家族中的一员，该家族蛋白质参与G蛋白信号通路。雷帕霉素靶点1（mTORC1）途径通过感知营养物的可用性来调节细胞生长。这个基因编码的蛋白质是GATOR1（Rags的GAP活性）复合物的组成部分，该复合物抑制mTORC1途径的氨基酸感知分支。这个基因的突变与常染色体显性家族性局灶性癫痫伴可变病灶有关。这个基因的一个内含子中的单核苷酸多态性与慢性丙型肝炎病毒感染患者肝癌风险的增加有关。选择性剪接导致多个转录变异体。[RefSeq，2014年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DEPDC5 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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References Literature
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