Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | PEAR1 |
Gene Name: | PEAR1 |
Protein Full Name: | Platelet endothelial aggregation receptor 1 |
Alias: | FLJ00193; Jedi; MEGF12; platelet endothelial aggregation receptor 1 |
Mass (Da): | 110666 |
Number AA: | 1037 |
UniProt ID: | Q5VY43 |
Locus ID: | 375033 |
COSMIC ID: | PEAR1 |
Gene location on chromosome: | 1q23.1 |
Number of cancer specimens: | 19603 |
Percent of cancer specimens with mutations: | 1.05 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with some point mutations , but no complex mutations, insertions or deletions. |
Normal role description: | PEAR1 is a platelet receptor that is activated by platelet-platelet interactions. Missense mutations in this gene have been found in ovarian tumors. Its role in oncogenesis, if any, is unclear. |
Commentary on involvement of protein in cancer: | When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells. |