PTPN13 (protein tyrosine phosphatase non-receptor type 13)
- symbol:
- PTPN13
- locus group:
- protein-coding gene
- location:
- 4q21.3
- gene_family:
- Protein tyrosine phosphatases, non-receptor type
- alias symbol:
- PTP1E|PTP-BAS|PTPL1|PTP-BL
- alias name:
- APO-1/CD95 (Fas)-associated phosph…
- entrez id:
- 5783
- ensembl gene id:
- ENSG00000163629
- ucsc gene id:
- uc003hpz.4
- refseq accession:
- NM_006264
- hgnc_id:
- HGNC:9646
- approved reserved:
- 1995-02-17
PTPN13（Protein Tyrosine Phosphatase Non-Receptor Type 13）是一种非受体型蛋白酪氨酸磷酸酶，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转导通路，从而影响细胞生长、分化、凋亡和免疫反应等过程。PTPN13在多种组织中表达，尤其在脑、心脏和骨骼肌中表达较高。它的主要作用位点包括细胞质和细胞膜，通过与其他信号分子（如Fas受体、β-catenin和JNK等）相互作用，参与调控细胞凋亡、Wnt信号通路和应激反应。PTPN13的突变或表达异常与多种疾病相关，包括癌症（如乳腺癌、结肠癌和肺癌）、神经退行性疾病和自身免疫性疾病。突变可能导致其磷酸酶活性丧失或功能异常，从而破坏细胞信号平衡，促进肿瘤发生或细胞凋亡失调。PTPN13过表达可能抑制某些促凋亡信号通路（如Fas介导的凋亡），增加细胞存活，与肿瘤发展相关；而降低表达可能增强凋亡敏感性或导致信号通路过度激活，影响组织稳态。PTPN13属于PTP家族中的非受体型亚群，该家族成员均含有保守的催化结构域，但通过不同的蛋白互作域（如PDZ或FERM结构域）实现功能特异性。PTP家族在调控酪氨酸磷酸化水平中起关键作用，与激酶共同维持细胞信号网络的动态平衡。
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]
Gene Ontology
Subcellular localization of PTPN13 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for PTPN13:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Peripheral Neuropathy | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Colorectal Neoplasms | 0.007729856 | 3 | 0 | BeFree_GAD_LHGDN |
| Mammary Neoplasms | 0.005991584 | 3 | 0 | BeFree_LHGDN |
| Head and Neck Neoplasms | 0.004734064 | 2 | 0 | GAD |
| Lupus Erythematosus, Systemic | 0.004734064 | 2 | 0 | GAD |
| Neoplasm Metastasis | 0.003810118 | 4 | 0 | BeFree_LHGDN |
| Squamous cell carcinoma | 0.002909916 | 3 | 1 | BeFree_GAD |
| Esophageal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Lung Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
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