PTPN7 (protein tyrosine phosphatase, non-receptor type 7)
2010-01-01 Marie Fridberg , Helena Tassidis , Anette Gjörloff Wingren, PhD AffiliationDepartment of Tumor Biology, Lund University, Malmo University Hospital, Malmo, Sweden (MF, HT); Department of Laboratory Science, Health, Society, Malmo University, Malmo University Hospital, Malmo, Sweden (AGW)
Identity
HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
BPTP-4,HEPTP,LC-PTP,LPTP,PTPNI
FUSION GENES
DNA/RNA
Description
The premessenger has 10 exons and covers 14.59 kb on the genome.
Transcription
The complete mRNA is 3784 bp long. 2 alternatively spliced transcript variants encoding different isoforms have been found, but it has also been reported that transcription produces 16 different mRNAs, 15 alternatively spliced variants and 1 unspliced form. Of the 2 described variants, variant 1 (2,805 bp linear mRNA) contains a different 5 region, which includes a part of the coding sequence when compared to variant 2. Variant 2 (3,263 bp linear mRNA) contains an alternate 5 region, which includes an additional in-frame translation start codon, as compared to variant 1. It thus encodes a protein that is 39 aa longer at the N-terminus.
Pseudogene
No pseudogenes have been found.
Proteins
Description
The hematopoietic protein tyrosine phosphatase (HePTP) protein is a 40,5 kDa protein of 360 amino acids. It is a class I non-receptor PTP that is strongly expressed in T cells. It is composed of a C-terminal classical PTP domain (residues 44-339) and a short N-terminal extension (residues 1-43) that functions to direct HePTP to its physiological substrates.
Expression
Thymus, spleen, leukocytes.
Localisation
Cytoplasmic.
Function
Protein tyrosine phosphatase activity, hydrolase activity, phosphoric monoester hydrolase activity, receptor activity- participation in MAPK signaling pathways, T cell receptor signaling pathway and protein amino acid dephosphorylation.
The protein can interact with tyrosine-phosphorylated MAPK1, MAPK3 and several other MAP kinases and suppress the MAP kinase activities. Plays a role in the regulation of T and B-lymphocyte development and signal transduction.
The protein can interact with tyrosine-phosphorylated MAPK1, MAPK3 and several other MAP kinases and suppress the MAP kinase activities. Plays a role in the regulation of T and B-lymphocyte development and signal transduction.
Mutations
Germinal
No germline mutations are described.
Somatic
Mutations have not been observed.
Implicated in
Entity name
Disease
Myelodysplastic syndrome and myelogenous leukemia; HePTP often is dysregulated in the preleukemic disorder myelodysplastic syndrome and myelogenous leukemia (elevated expression of HePTP). The first indication of a role of HePTP in cell proliferation or differentiation came from the finding that the HePTP gene is located on the long arm of chromosome 1, which is often found in extra copies (trisomy) in bone marrow cells from patients with myelodysplastic syndrome, which is characterized by reduced hematopoiesis and increased risk of acute leukemia.
Entity name
Non-Hodgkin Lymphoma
Disease
Pediatric lymphoma; HePTP is down-regulated in pediatric lymphoma compared to control lymphoid cells. Loss of HePTP might indicate increased cell proliferation and/or survival of lymphoma cells.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8084610 | 1994 | Structure of the human LC-PTP (HePTP) gene: similarity in genomic organization within protein-tyrosine phosphatase genes. | Adachi M et al |
| 18728972 | 2008 | Immunohistochemical analyses of phosphatases in childhood B-cell lymphoma: lower expression of PTEN and HePTP and higher number of positive cells for nuclear SHP2 in B-cell lymphoma cases compared to controls. | Fridberg M et al |
| 10940933 | 2000 | Subcellular localization of intracellular protein tyrosine phosphatases in T cells. | Gjörloff-Wingren A et al |
| 16226275 | 2005 | Structure of the hematopoietic tyrosine phosphatase (HePTP) catalytic domain: structure of a KIM phosphatase with phosphate bound at the active site. | Mustelin T et al |
| 10415025 | 1999 | Direct suppression of TCR-mediated activation of extracellular signal-regulated kinase by leukocyte protein tyrosine phosphatase, a tyrosine-specific phosphatase. | Oh-hora M et al |
| 10702794 | 2000 | The MAP-kinase ERK2 is a specific substrate of the protein tyrosine phosphatase HePTP. | Pettiford SM et al |
| 10206983 | 1999 | Inhibition of T cell signaling by mitogen-activated protein kinase-targeted hematopoietic tyrosine phosphatase (HePTP). | Saxena M et al |
| 7557444 | 1995 | Cloning and expression of PCPTP1 encoding protein tyrosine phosphatase. | Shiozuka K et al |
| 8309248 | 1994 | A hematopoietic protein tyrosine phosphatase (HePTP) gene that is amplified and overexpressed in myeloid malignancies maps to chromosome 1q32.1. | Zanke B et al |
| 1530918 | 1992 | Cloning and expression of an inducible lymphoid-specific, protein tyrosine phosphatase (HePTPase). | Zanke B et al |
Other Information
Locus ID:
NCBI: 5778
MIM: 176889
HGNC: 9659
Ensembl: ENSG00000143851
Variants:
dbSNP: 5778
ClinVar: 5778
TCGA: ENSG00000143851
COSMIC: PTPN7
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| MAPK signaling pathway | KEGG | ko04010 |
| MAPK signaling pathway | KEGG | hsa04010 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31266805 | 2019 | The protein tyrosine phosphatase PTPN7 is a negative regulator of ERK activation and thromboxane generation in platelets. | 8 |
| 31266805 | 2019 | The protein tyrosine phosphatase PTPN7 is a negative regulator of ERK activation and thromboxane generation in platelets. | 8 |
| 20668459 | 2010 | Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families. | 5 |
| 20668459 | 2010 | Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families. | 5 |
| 19053285 | 2008 | Structural basis of substrate recognition by hematopoietic tyrosine phosphatase. | 18 |
| 19053285 | 2008 | Structural basis of substrate recognition by hematopoietic tyrosine phosphatase. | 18 |
| 16441242 | 2006 | Crystal structures and inhibitor identification for PTPN5, PTPRR and PTPN7: a family of human MAPK-specific protein tyrosine phosphatases. | 27 |
| 16441242 | 2006 | Crystal structures and inhibitor identification for PTPN5, PTPRR and PTPN7: a family of human MAPK-specific protein tyrosine phosphatases. | 27 |
| 16226275 | 2005 | Structure of the hematopoietic tyrosine phosphatase (HePTP) catalytic domain: structure of a KIM phosphatase with phosphate bound at the active site. | 19 |
| 16226275 | 2005 | Structure of the hematopoietic tyrosine phosphatase (HePTP) catalytic domain: structure of a KIM phosphatase with phosphate bound at the active site. | 19 |
Citation
Marie Fridberg ; Helena Tassidis ; Anette Gjörloff Wingren, PhD
PTPN7 (protein tyrosine phosphatase, non-receptor type 7)
Atlas Genet Cytogenet Oncol Haematol. 2010-01-01
Online version: http://atlasgeneticsoncology.org/gene/41921/ptpn7-(protein-tyrosine-phosphatase-non-receptor-type-7)
