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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
DYRK1A - Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A
Alias:
MNB
DYRK
HP86
MNBH
MRD7
DYRK1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码双特异性的酪氨酸磷酸化调节激酶(DYRK)家族的一员。这个成员包含一个核定位信号序列,一个蛋白激酶结构域,一个亮氨酸拉链基序,和一个高度保守的13个连续组氨酸重复序列。它催化其血清/苏氨酸和酪氨酸残基上的自磷酸化。它可能在调节细胞增殖的信号通路中扮演重要角色,并可能涉及大脑发育。这个基因是果蝇mnb(小脑)基因的同源基因,也是大鼠Dyrk基因的同源基因。它位于染色体21的Down综合征关键区域,被认为是与Down综合征相关的学习缺陷的强候选基因。这个基因的可变剪接产生了几种在5'UTR或3'编码区域不同的新转录本变异体。这些变异体至少编码五种不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1859
ENSEMBL:ENSG00000157540
HGNC:3091
UNIPROT:Q13627
OMIM:600855
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1859
7
12
160786 bp
85.58
818
9
11
30
DYRK1A 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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