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: | ALK |
| Gene Name: | ALK |
| Protein Full Name: | ALK TYROSINE KINASE RECEPTOR PRECURSOR. |
| Alias: | Anaplastic lymphoma kinase; Anaplastic lymphoma kinase (Ki-1); Anaplastic lymphoma receptor tyrosine kinase; CD246; EC 2.7.10.1; Kinase ALK |
| Mass (Da): | 176428 |
| Number AA: | 1620 |
| UniProt ID: | Q9UM73 |
| Locus ID: | 238 |
| COSMIC ID: | ALK |
| Gene location on chromosome: | 2p23 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 25356 |
| Percent of cancer specimens with mutations: | 2.88 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, but only 1 deletion near C-terminus of protein; no other complex mutations, insertions and deletions across entire protein. However, point mutations at AA 1174 and AA 1275 occurs at a very m |
| Commonly recorded point mutations: | F1174L (90); R1275Q (85); |
| Deregulated in translocations: | Anaplastic large cell lymphoma (ALCL) are associated with the translocation: t(2;5)(p23;q35)-->NPM1-ALK. Cytoplasmic ALK+ anaplasic large cell lymphoma (ALCL) are associated with translocations: t(X;2)(q11;p23), t(1;2)(q25;p23), inv(2)(p23q35), t(2;3)(p2 |
| Normal role description: | ALK is a receptor-tyrosine kinase (belonging to the insulin receptor family) that is activated upon binding an unidentified ligand. Chromosomal rearrangments (most common), mutations, and amplifications in this gene are associated with numerous tumors including: anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. These fusion proteins, as well as other mutations and amplifications, likely confer hightened (possibly consititutive) kinase activity and thus promote cell growth and anti-apoptotic pathways such as the Akt MAPK pathways. |
| Commentary on involvement of protein in cancer: | F1174 and R1275 are located in the kinase catalytic domain. F1174L in NBLST3; somatic mutation. F1174 is located near kinase subdomain III region. R1275Q in NBLST3. R1275 is located in the kinase activation loop just after subdomain VII. |