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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
LIMK1 - LIM Domain Kinase 1
Alias:
LIMK
LIMK-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
已知约40种真核生物LIM蛋白,因其含有的LIM结构域而命名。LIM结构域是高度保守的富含半胱氨酸结构,包含2个锌指。尽管锌指通常通过结合DNA或RNA发挥作用,但LIM基序可能调节蛋白质-蛋白质相互作用。LIM激酶-1和LIM激酶-2属于一个小型亚家族,具有独特的2个N端LIM基序和1个C端蛋白激酶结构域组合。LIMK1是一种丝氨酸/苏氨酸激酶,通过磷酸化和失活肌动蛋白结合因子cofilin来调节肌动蛋白聚合。该蛋白在发育过程中普遍表达,并在与细胞骨架结构相关的许多细胞过程中发挥作用。该蛋白还刺激轴突生长,可能在脑发育中发挥作用。LIMK1半合缺陷与威廉斯综合征的视觉空间建构认知障碍有关。可变剪接产生多个编码不同异型体的转录变异体。[RefSeq,2011年2月提供]
Related ID:
NCBI:3984
ENSEMBL:ENSG00000106683
HGNC:6613
UNIPROT:P53667
OMIM:601329
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3984
2
16
38722 bp
72.58
63
1
4
31
LIMK1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
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Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
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Status
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Link
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References Literature
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