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中文人类
HNRNPA1 - Heterogeneous Nuclear Ribonucleoprotein A1
Alias:
UP 1
ALS19
ALS20
HNRPA1
IBMPFD3
HNRPA1L3
hnRNP A1
hnRNP-A1
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这个基因编码一个广泛表达的异质核核糖核蛋白(hnRNP)家族的成员，这些蛋白质是与核中的预mRNA结合的RNA结合蛋白质，并影响预mRNA加工以及mRNA代谢和运输的其他方面。这个基因编码的蛋白质是hnRNP复合物中最丰富的核心蛋白质之一，在调节可变剪接中起关键作用。在这个基因中发现的突变已在患有肌萎缩侧索硬化20的患者中观察到。已经发现了多种可变剪接的转录变异体。在基因组中分布着这个基因的许多假基因。[RefSeq，2016年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HNRNPA1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
