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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
GSKIP - GSK3B Interacting Protein
Alias:
HSPC210
C14orf129
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种蛋白质,作为GSK3-beta在Wnt信号通路中的负调控因子。编码的蛋白质可能通过调节GSK3-beta、beta-catenin和细胞周期蛋白D1之间的功能相互作用,在视黄酸信号通路中发挥作用。该蛋白质在其C端含有与GSK3-beta相互作用的结构域(GID),与Axin的GID相似。该蛋白质还包含一个进化保守的RII结合结构域,有助于与蛋白激酶A和GSK3-beta结合,使其成为A-激酶锚定蛋白。已经观察到了这个基因的可变剪接转录变异体。[RefSeq,2012年12月提供]
Related ID:
NCBI:51527
ENSEMBL:ENSG00000100744
HGNC:20343
UNIPROT:Q9P0R6
OMIM:616605
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51527
4
4
23765 bp
15.65
12
--
3
9
GSKIP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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References Literature
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