Version: 8.0.0Date: Tue Jan 28 2025
Gene
PTPN1
- Species
- Homo sapiens
- Symbol
- PTPN1
- Name
- protein tyrosine phosphatase non-receptor type 1
- Synonyms
- protein tyrosine phosphatase 1B
- protein tyrosine phosphatase, placental
- Biotype
- protein coding gene
- Automated Description
- Enables protein tyrosine phosphatase activity; signaling receptor binding activity; and zinc ion binding activity. Involved in several processes, including positive regulation of receptor catabolic process; regulation of protein kinase activity; and regulation of signal transduction. Located in cytoplasmic side of endoplasmic reticulum membrane; early endosome; and plasma membrane. Part of protein-containing complex. Implicated in coronary artery disease; essential hypertension; and type 2 diabetes mellitus. Biomarker of diabetes mellitus and proliferative diabetic retinopathy.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR46047
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr20:50510321...50585241 + (74.92 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.