Gene: PTPN1

Alternate names for this Gene: PTP1B

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.13

Description of this Gene: protein tyrosine phosphatase non-receptor type 1

Type of Gene: protein-coding

rs6126042 in PTPN1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4602269 in PTPN1 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs754118 in PTPN1 gene and Muscular Dystrophy, Duchenne PMID 30014611 2018 Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.