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: | EPB41L3 |
Gene Name: | EPB41L3 |
Protein Full Name: | Band 4.1-like protein 3 |
Alias: | 4.1B; DAL1; DAL1P; Differentially expressed in adenocarcinoma of the lung protein 1; E41L3; E4L3; EPB4.1L3; Erythrocyte membrane protein band 4.1-like 3; KIAA0987; MDAL-1 |
Mass (Da): | 120678 |
Number AA: | 1087 |
UniProt ID: | Q9Y2J2 |
Locus ID: | 23136 |
COSMIC ID: | EPB41L3 |
Gene location on chromosome: | 18p11.32 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19673 |
Percent of cancer specimens with mutations: | 1.78 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with several point mutations, but no complex, insertion or deletion mutants. |
Normal role description: | EPB41L3 is part of the 4.1 protein superfamily. It is involved in induction apoptosis although the mechanims is still unclear and signalling throught Rac1-dependent JNK signalling. Its role is inhibition of growth. Reduction is seen in many cancers and lead to tumour progression. |