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: | KDM5A |
| Gene Name: | KDM5A |
| Protein Full Name: | Lysine-specific demethylase 5A |
| Alias: | EC 1.14.11.-;; Histone demethylase JARID1A; JAD1A; JARID1A; Jumonji/ARID domain-containing protein 1A; Lysine (K)-specific demethylase 5A; RBB2; RBBP2; RBBP-2; RBP2; Retinoblastoma-binding protein 2 |
| Mass (Da): | 192095 |
| Number AA: | 1690 |
| UniProt ID: | P29375 |
| Locus ID: | 5927 |
| COSMIC ID: | KDM5A |
| Gene location on chromosome: | 12p13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 19549 |
| Percent of cancer specimens with mutations: | 1.33 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(11;12)(p15;p13) translocation with NUP98 in acute megakaryoblastic leukemia |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | KDM5A is a histone demethylase that plays a role in epigenetic activation and/or repression of genes. While demethylation usually activates gene transcription, KDM5A may participate in the repression of cytokine expression such as CXCL12. It may also be involved in the transcriptional regulation of Hox proteins during cell differentiation. KDM5A is also known to interact with Rb and rhombotin-2, which have roles in cell proliferation, erythropoiesis and/or T-cell leukemogenesis. KDM5A has been shown to be recruited by Mad1 to repress telomerase reverse transcriptase transcription, a myc target and an oncogene. A t(11;12)(p15;p13) translocation with NUP98 is implicated in acute megakaryoblastic leukemia (only one case). This fusion protein is a potent oncoprotein that arrested hematopoietic differentiation and induced acute myeloid leukemia. |