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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
JAK1 - Janus Kinase 1
Alias:
JTK3
AIIDE
JAK1A
JAK1B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个膜蛋白,属于蛋白质酪氨酸激酶(PTK)类成员,其特点是N端紧挨着PTK结构域有一个第二磷酸转移相关域。编码的激酶可以磷酸化STAT蛋白(信号转导子和转录激活子),并在干扰素-α/β、干扰素-γ和细胞因子信号传导中扮演关键角色。这个基因在调节介导炎症、上皮重塑和转移性癌症进展的基因表达中扮演关键角色。这个基因是白细胞介素-6(IL-6)/JAK1/STAT3免疫和炎症反应的关键组成部分,是减轻细胞因子风暴的治疗靶点。这个基因的激酶活性直接受到细胞因子信号抑制蛋白1(SOCS1)的抑制。可变剪接产生多个转录变异体。[RefSeq,2020年7月提供]
Related ID:
NCBI:3716
ENSEMBL:ENSG00000162434
HGNC:6190
UNIPROT:P23458
OMIM:147795
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3716
12
25
234518 bp
133.28
416
2
15
23
JAK1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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