| Written | 2010-01 | Marie Fridberg, Helena Tassidis, Anette Gjörloff Wingren |
| Department 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 |
| Alias_symbol (synonym) | HEPTP |
| LC-PTP | |
| Other alias | BPTP-4 |
| LPTP | |
| PTPNI | |
| HGNC (Hugo) | PTPN7 |
| LocusID (NCBI) | 5778 |
| Atlas_Id | 41921 |
| Location | 1q32.1 [Link to chromosome band 1q32] |
| Location_base_pair | Starts at 202147013 and ends at 202159991 bp from pter ( according to hg19-Feb_2009) [Mapping PTPN7.png] |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| ADARB2 (10p15.3) / PTPN7 (1q32.1) | PTPN7 (1q32.1) / PTPN7 (1q32.1) |
| 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. |
| Protein |
| 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. |
| Homology | HePTP has high homologies with striatal-enriched phosphatase (STEP) and PCPTP (PC12 protein Tyr phosphatase). |
| Mutations |
| Germinal | No germline mutations are described. |
| Somatic | Mutations have not been observed. |
| Implicated in |
| Note | |
| Entity | Acute leukemia |
| 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 | 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. |
| Bibliography |
| Structure of the human LC-PTP (HePTP) gene: similarity in genomic organization within protein-tyrosine phosphatase genes. |
| Adachi M, Miyachi T, Sekiya M, Hinoda Y, Yachi A, Imai K. |
| Oncogene. 1994 Oct;9(10):3031-5. |
| PMID 8084610 |
| 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, Kjellstrom S, Anagnostaki L, Skogvall I, Mustelin T, Wiebe T, Persson JL, Dictor M, Wingren AG. |
| Pediatr Hematol Oncol. 2008 Sep;25(6):528-40. |
| PMID 18728972 |
| Subcellular localization of intracellular protein tyrosine phosphatases in T cells. |
| Gjorloff-Wingren A, Saxena M, Han S, Wang X, Alonso A, Renedo M, Oh P, Williams S, Schnitzer J, Mustelin T. |
| Eur J Immunol. 2000 Aug;30(8):2412-21. |
| PMID 10940933 |
| Structure of the hematopoietic tyrosine phosphatase (HePTP) catalytic domain: structure of a KIM phosphatase with phosphate bound at the active site. |
| Mustelin T, Tautz L, Page R. |
| J Mol Biol. 2005 Nov 18;354(1):150-63. Epub 2005 Oct 3. |
| PMID 16226275 |
| Direct suppression of TCR-mediated activation of extracellular signal-regulated kinase by leukocyte protein tyrosine phosphatase, a tyrosine-specific phosphatase. |
| Oh-hora M, Ogata M, Mori Y, Adachi M, Imai K, Kosugi A, Hamaoka T. |
| J Immunol. 1999 Aug 1;163(3):1282-8. |
| PMID 10415025 |
| The MAP-kinase ERK2 is a specific substrate of the protein tyrosine phosphatase HePTP. |
| Pettiford SM, Herbst R. |
| Oncogene. 2000 Feb 17;19(7):858-69. |
| PMID 10702794 |
| Inhibition of T cell signaling by mitogen-activated protein kinase-targeted hematopoietic tyrosine phosphatase (HePTP). |
| Saxena M, Williams S, Brockdorff J, Gilman J, Mustelin T. |
| J Biol Chem. 1999 Apr 23;274(17):11693-700. |
| PMID 10206983 |
| Cloning and expression of PCPTP1 encoding protein tyrosine phosphatase. |
| Shiozuka K, Watanabe Y, Ikeda T, Hashimoto S, Kawashima H. |
| Gene. 1995 Sep 11;162(2):279-84. |
| PMID 7557444 |
| A hematopoietic protein tyrosine phosphatase (HePTP) gene that is amplified and overexpressed in myeloid malignancies maps to chromosome 1q32.1. |
| Zanke B, Squire J, Griesser H, Henry M, Suzuki H, Patterson B, Minden M, Mak TW. |
| Leukemia. 1994 Feb;8(2):236-44. |
| PMID 8309248 |
| Cloning and expression of an inducible lymphoid-specific, protein tyrosine phosphatase (HePTPase). |
| Zanke B, Suzuki H, Kishihara K, Mizzen L, Minden M, Pawson A, Mak TW. |
| Eur J Immunol. 1992 Jan;22(1):235-9. |
| PMID 1530918 |
| Citation |
| This paper should be referenced as such : |
| Fridberg, M ; Tassidis, H ; Gjörloff, Wingren A |
| PTPN7 (protein tyrosine phosphatase, non-receptor type 7) |
| Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1032-1033. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/PTPN7ID41921ch1q32.html |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Nov 13 21:52:53 CET 2019 |
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