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: | MLL |
| Gene Name: | MLL |
| Protein Full Name: | Histone-lysine N-methyltransferase MLL |
| Alias: | ALL1; ALL-1; CXXC7; HRX; HTRX; HTRX1; KMT2A; MLL1A; Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); Myeloid/lymphoid or mixed-lineage leukemia (trithorax); Trithorax-like protein; TRX1; Zinc finger protein HRX |
| Mass (Da): | 431764 |
| Number AA: | 3969 |
| UniProt ID: | Q03164 |
| Locus ID: | 4297 |
| COSMIC ID: | MLL |
| Gene location on chromosome: | 11q23 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 21771 |
| Percent of cancer specimens with mutations: | 2.36 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, and 2 deletions across most of the protein, but no complex mutations or insertions. |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | Over 85 recurrent translocations with at least 66 partner genes have been described. Examples: t(9;11)(p22;q23) with AF9; t(11;14)(q23;q24) with GPH; t(3;11)(q25;q23) with GMPS; ins(11;9)(q23;134)inv(11)(q13q23) with FBP17; t(3;11)(q28;q23) with LPP; t(11 |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | MLL is a histone methyltransferase that plays a role in early development and hematopoiesis. It has weak methyltransferase activity by itself, but can interact with other proteins to form a complex with full methyltransferase activity. It is required for the transcriptional activation of HOXA9, and promotes PPP1R15A-induced apoptosis. Multiple translocation products are associated with this proteins, most notably with AF-9. Due to its high rate of fusion with other proteins to become oncoproteins, it can be considered a proto-oncogene. |