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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
HNRNPF - Heterogeneous Nuclear Ribonucleoprotein F
Alias:
HNRPF
mcs94-1
OK/SW-cl.23
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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是与异质核RNA(hnRNA)结合的RNA结合蛋白。这些蛋白与核中的预mRNA相关联,并调节可变剪接、聚腺苷酸化以及mRNA代谢和运输的其他方面。虽然所有hnRNPs都在核中存在,但某些hnRNPs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三个重复的拟RRM结构域,可以结合具有富含鸟苷序列的RNA。这个蛋白质与hnRPH家族成员非常相似。已经识别出多种可变剪接的变异体,它们编码相同的蛋白质。[RefSeq,2008年7月提供]
Related ID:
NCBI:3185
ENSEMBL:ENSG00000169813
HGNC:5039
UNIPROT:P52597
OMIM:601037
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3185
6
4
23569 bp
45.67
6
--
4
29
HNRNPF Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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