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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
CENPS - Centromere Protein S
Alias:
MHF1
APITD1
CENP-S
FAAP16
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是在染色体1p36的神经母细胞瘤肿瘤抑制候选区域中鉴定出来的。它包含一个TFIID-31域,类似于在TATA盒结合蛋白相关因子,TAF(II)31中发现的域,后者对于p53介导的转录激活是必需的。这个基因在神经母细胞瘤肿瘤中表达水平非常低,并且在神经母细胞瘤细胞中显示出减少细胞生长的能力,这表明它可能在细胞死亡途径中发挥作用。该蛋白质是多个复合物的组成部分,包括Fanconi贫血核心复合物,APITD1/CENPS复合物和CENPA-CAD(核小体远端)复合物。已知的功能包括参与FA核心复合物的染色质关联,以及在稳定组装外中心体中的作用。这个基因的可变剪接产生多个转录变体。自然发生的读过转录本也存在于这个基因和下游的Cortistatin(CORT)基因之间,如GeneID:100526739所示。在染色体7上已经鉴定出一个APITD1相关的假基因。[由RefSeq提供,2010年11月]
Related ID:
NCBI:378708
ENSEMBL:ENSG00000175279
HGNC:23163
UNIPROT:Q8N2Z9
OMIM:609130
Basic Information
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Length
MW (kDa)
Mutations
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Reference
378708
1
5
12376 bp
15.89
1
--
4
10
CENPS Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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