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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
VRK1 - VRK Serine/threonine Kinase 1
Alias:
PCH1
PCH1A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个成员,该成员是痘苗相关激酶(VRK)家族的一员,该家族是丝氨酸/苏氨酸蛋白激酶。这个基因在人体组织中广泛表达,并在活跃分裂的细胞中表达增加,例如睾丸、胸腺、胎儿肝脏和癌细胞的那些。其蛋白质定位在核中,已被证明可以促进转录活性p53分子的稳定性和核积累,并在体外,对p53的Thr18进行磷酸化并减少p53的泛素化。因此,这个基因可能调节细胞增殖。这个蛋白质还磷酸化组蛋白、酪蛋白和转录因子ATF2(激活转录因子2)和c-JUN。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7443
ENSEMBL:ENSG00000100749
HGNC:12718
UNIPROT:Q99986
OMIM:602168
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7443
10
13
84228 bp
45.48
427
5
7
20
VRK1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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