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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
NEK1 - NIMA Related Kinase 1
Alias:
ALS24
SRPS2
SRTD6
SRPS2A
NY-REN-55
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种丝氨酸/苏氨酸激酶,参与细胞周期调节。编码的蛋白质位于与FEZ1(一种在轴突发育中起作用的神经元蛋白质)共处的中心体复合物中。这个基因的缺陷是导致多囊肾疾病(PKD)的原因。已经发现这个基因有几个编码不同异型的转录变异体。[RefSeq,2010年12月提供]
Related ID:
NCBI:4750
ENSEMBL:ENSG00000137601
HGNC:7744
UNIPROT:Q96PY6
OMIM:604588
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4750
24
36
219775 bp
142.83
611
11
8
21
NEK1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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