PTPN1 (protein tyrosine phosphatase non-receptor type 1)
- symbol:
- PTPN1
- locus group:
- protein-coding gene
- location:
- 20q13.13
- gene_family:
- Protein tyrosine phosphatases, non-receptor type
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 5770
- ensembl gene id:
- ENSG00000196396
- ucsc gene id:
- uc002xvl.5
- refseq accession:
- NM_001278618
- hgnc_id:
- HGNC:9642
- approved reserved:
- 1991-09-13
PTPN1（Protein Tyrosine Phosphatase Non-Receptor Type 1）是一种蛋白酪氨酸磷酸酶，属于PTP（Protein Tyrosine Phosphatase）基因家族。该家族的主要功能是通过去磷酸化调控细胞内的信号传导，尤其是参与细胞生长、分化、代谢和免疫反应的调控。PTPN1编码的蛋白质PTP1B在多种组织中表达，包括肝脏、肌肉和脂肪组织，主要定位于内质网膜。PTP1B通过负调控胰岛素受体信号通路影响葡萄糖代谢和能量平衡，是胰岛素和瘦素信号通路的关键负调节因子。PTPN1的突变或异常表达与多种疾病相关，例如2型糖尿病、肥胖和某些癌症。PTPN1功能丧失突变或表达降低会增强胰岛素敏感性，改善血糖控制，但也可能增加癌症风险。相反，PTPN1过表达会抑制胰岛素信号传导，导致胰岛素抵抗，促进糖尿病和肥胖的发生。此外，PTPN1还参与炎症反应和肿瘤发生，其过表达在某些癌症中可能促进肿瘤进展。PTP家族成员均含有高度保守的催化结构域，负责去磷酸化作用，但各成员在组织分布和底物特异性上存在差异。PTPN1作为该家族的重要成员，其功能研究为代谢性疾病和癌症的靶向治疗提供了潜在方向。
The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
由该基因编码的蛋白质是蛋白质酪氨酸磷酸酶（PTP）家族，其被分离和鉴定根据它的酶活性和氨基酸序列的创始成员。的PTP催化特异性酪氨酸残基的磷酸单酯的水解。 PTP的家族的成员共享高度保守的催化基序，这对于催化活性是必不可少的。的PTPs已知是信令调节多种细胞过程，包括细胞生长，分化，有丝分裂周期，和致癌性转化的分子。此PTP已经显示通过去磷酸化的胰岛素受体激酶的phosphotryosine残基充当胰岛素信号传导的负调节物。此PTP另据报道，以去磷酸化的表皮生长因子受体激酶，以及JAK2和TYK2激酶，这牵涉本PTP在细胞生长控制的作用，和细胞应答干扰素刺激。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的，2013年7月提供]
基因本体信息
PTPN1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
PTPN1基因的本体（GO）信息：
| 名称 |
|---|
| 4520 Adherens junction [PATH:hsa04520] |
| 4910 Insulin signaling pathway [PATH:hsa04910] |
| 名称 |
|---|
| Cytokine Signaling in Immune system |
| Growth hormone receptor signaling |
| Hemostasis |
| Immune System |
| Integrin alphaIIb beta3 signaling |
| Interferon alpha/beta signaling |
| Interferon gamma signaling |
| Interferon Signaling |
| Platelet activation, signaling and aggregation |
| Platelet Aggregation (Plug Formation) |
| Regulation of IFNA signaling |
| Regulation of IFNG signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.147546451 | 25 | 1 | BeFree_CTD_human_GAD |
| B-Cell Lymphomas | 0.120542884 | 2 | 0 | BeFree_CTD_human |
| Hodgkin Disease | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Rett Syndrome | 0.12 | 1 | 0 | CTD_human |
| INSULIN RESISTANCE, SUSCEPTIBILITY TO | 0.12 | 0 | 1 | CLINVAR |
| Mediastinal Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Obesity | 0.011053172 | 32 | 1 | BeFree_GAD |
| Hypertensive disease | 0.007915422 | 4 | 0 | BeFree_GAD |
| Metabolic Syndrome X | 0.006362715 | 7 | 0 | BeFree_GAD |
| Diabetes Mellitus | 0.005895776 | 14 | 0 | BeFree_GAD |
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