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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
SIPA1L3 - Signal Induced Proliferation Associated 1 Like 3
Alias:
SPAL3
SPAR3
CTRCT45
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于信号诱导增殖相关1家族基因,编码特异性的GTP结合蛋白Rap1的GTP酶激活蛋白。Rap1与细胞粘附、细胞极性和细胞骨架的组织调控有关。与其他家族成员一样,这个基因编码的蛋白质包含RapGAP和PDZ结构域。此外,这个蛋白质还含有一个C端的亮氨酸拉链结构域。这个基因被认为在上皮细胞形态发生和极性建立或维持中起作用。在细胞培养中,这个蛋白质的表达定位在细胞间的顶部区域边界,而在3D Caco2细胞培养中这个基因的下调会导致细胞极性和形态发生的异常。这个基因的等位基因变异与人类的先天性白内障有关。[RefSeq,2016年2月提供]
Related ID:
NCBI:23094
ENSEMBL:ENSG00000105738
HGNC:23801
UNIPROT:O60292
OMIM:616655
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23094
8
22
301162 bp
194.61
267
2
3
11
SIPA1L3 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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Status
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References Literature
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