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: | MLLT4 |
Gene Name: | MLLT4 |
Protein Full Name: | Afadin |
Alias: | AF6; AF-6; AFAD; ALL1 fused gene from chromosome 6 protein; Myeloid/lymphoid or mixed-lineage leukemia (trithorax) translocated to, 4 |
Mass (Da): | 206804 |
Number AA: | 1816 |
UniProt ID: | P55196 |
Locus ID: | 4301 |
COSMIC ID: | MLLT4 |
Gene location on chromosome: | 6q27 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 20384 |
Percent of cancer specimens with mutations: | 1.19 |
Mutations observed as inherited: | NA |
Found in amplified chromosomal regions in human cancers: | NA |
Deregulated in translocations: | t(6;11)(q27;q23) with ALL1 in acute lymphocytic leukemia |
Deregulated by viral insertion: | NA |
Transduced into viral genome: | NA |
Gene undergoes hypermethylation: | NA |
Normal role description: | MLLT4 is an adhesion protein that functions in the E-cadherin-catenin system and plays a role in the organization of cell-cell adherens junctions. Overexpression of MLLT4 resulted in the inhibition of RAP1-induced cell adhesion. A t(6;11)(q27;q23) translocation with ALL-1 resulting in a protein with constitutive activatory activity has been associated with acute leukemias. |