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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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人类
PTPN1 - Protein Tyrosine Phosphatase Non-receptor Type 1
Alias:
PTP1B
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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蛋白质酪氨酸磷酸酶(PTP)家族的创始人,其根据酶活性和氨基酸序列被分离和鉴定。PTPs特异性地催化酪氨酸残基上的磷酸单酯的水解。PTP家族成员共享一个高度保守的催化基序,这是催化活性的基本要素。已知PTPs是调节各种细胞过程的信号分子,包括细胞生长、分化、有丝分裂周期和癌基因转化。已经证明这个PTP通过去磷酸化胰岛素受体激酶的磷酸酪氨酸残基,作为胰岛素信号的负调控者发挥作用。这个PTP还被报道去磷酸化表皮生长因子受体激酶以及JAK2和TYK2激酶,这表明这个PTP在细胞生长控制和细胞对干扰素刺激的反应中发挥作用。已经发现这个基因有两个编码不同异型的转录变异体。[RefSeq,2013年7月提供]
Related ID:
NCBI:5770
ENSEMBL:ENSG00000196396
HGNC:9642
UNIPROT:P18031
OMIM:176885
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
5770
2
10
74859 bp
49.97
10
1
9
29
PTPN1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
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