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: | MACF1 |
Gene Name: | MACF1 |
Protein Full Name: | Microtubule-actin cross-linking factor 1, isoform |
Alias: | 620 kDa actin binding protein; ABP620; ACF7; Actin cross-linking factor; Actin cross-linking family protein 7; FLJ45612; FLJ46776; KIAA0465; KIAA1251; MACF; MACF4; Macrophin 1; Microtubule-actin crosslinking 1; Microtubule-actin crosslinking factor 1; Trabeculin-alpha |
Mass (Da): | 670151 |
Number AA: | 5938 |
UniProt ID: | Q9UPN3 |
Locus ID: | 23499 |
COSMIC ID: | MACF1 |
Gene location on chromosome: | 1p32-p31 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19808 |
Percent of cancer specimens with mutations: | 3.16 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with point mutations over protein length, but only 1 insertions and no deletions. |
Normal role description: | Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Acts as a positive regulator of Wnt receptor signalling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane. Plays a key role in wound healing and epidermal cell migration. Oncogenesis may be mediated through Wnt signalling pathway. |