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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
RAP1GAP - RAP1 GTPase Activating Protein
Alias:
RAPGAP
RAP1GA1
RAP1GAP1
RAP1GAPII
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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GTP酶激活蛋白(GAP),它下调ras相关RAP1蛋白的活性。RAP1作为一种分子开关,通过在不活跃的GDP结合形式和活跃的GTP结合形式之间循环来发挥作用。这个基因的产物,RAP1GAP,促进结合GTP的水解,因此将RAP1返回到不活跃状态,而其他蛋白质,鸟苷核苷酸交换因子(GEFs),通过促进RAP1从GDP结合形式到GTP结合形式的转换来作为RAP1的激活剂。一般来说,ras亚家族蛋白,如RAP1,在控制细胞生长和分化的受体连接信号通路中起关键作用。RAP1在细胞增殖、粘附、分化和胚胎发育等多样化过程中发挥作用。可变剪接导致多种转录变体,编码不同的蛋白质。[由RefSeq提供,2011年8月]
Related ID:
NCBI:5909
ENSEMBL:ENSG00000076864
HGNC:9858
UNIPROT:P47736
OMIM:600278
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
5909
94
25
73137 bp
73.36
23
--
4
15
RAP1GAP Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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