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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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PTBP1 - Polypyrimidine Tract Binding Protein 1
Alias:
PTB
PTB2
PTB3
PTB4
pPTB
HNRPI
PTB-1
PTB-T
HNRNPI
HNRNP-I
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于泛表达异质核核糖核蛋白(hnRNPs)的亚家族。hnRNPs是RNA结合蛋白,它们与异质核RNA(hnRNA)复合。这些蛋白与核中的预mRNA相关联,似乎影响预mRNA的加工和mRNA代谢和运输的其他方面。虽然所有hnRNPs都在核中存在,但有些似乎在核质之间穿梭。hnRNP蛋白具有独特的核酸结合特性。这个基因编码的蛋白质具有四个重复的拟RNA识别基序(RRM)结构域,可以结合RNA。这个蛋白质结合需要预mRNA剪接的内含子多嘧啶轨迹,并通过蛋白质降解的泛素-蛋白酶体途径起作用。它还可以促进U2 snRNP与预mRNA的结合。这个蛋白质定位在核质中,也在核周边结构中检测到。已经描述了编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5725
ENSEMBL:ENSG00000011304
HGNC:9583
UNIPROT:P26599
OMIM:600693
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5725
6
15
14861 bp
59.63
39
--
6
31
PTBP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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