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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
SH3BP1 - SH3 Domain Binding Protein 1
Alias:
ARHGAP43
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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Rho GTP酶激活蛋白(RhoGAP)家族的一员。编码的蛋白质调节Rac信号传导,并在细胞骨架动力学、细胞迁移和上皮连接形成中发挥作用。该蛋白质与外质体复合物结合,将分泌囊泡锚定到质膜上,已被证明在细胞迁移中具有重要意义。在另一个不同的复合物中,该蛋白质已被证明可以调节上皮连接的形成和形态发生。通过与Plexin-D1细胞表面受体相互作用,该蛋白质可以介导响应Semaphorin结合的细胞骨架变化。这个蛋白质可能促进人类肝癌细胞和组织中的转移。[由RefSeq,2017年3月提供]
Related ID:
NCBI:23616
ENSEMBL:ENSG00000100092
HGNC:10824
UNIPROT:Q9Y3L3
OMIM:617368
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23616
2
18
16449 bp
75.71
32
--
2
17
SH3BP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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