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: | CHL1 |
| Gene Name: | CHL1 |
| Protein Full Name: | Neural cell adhesion molecule L1-like protein |
| Alias: | CALL; Close homologue of L1; L1 cell adhesion molecule 2; L1CAM2 |
| Mass (Da): | 135057 |
| Number AA: | 1208 |
| UniProt ID: | NA |
| Locus ID: | 10752 |
| COSMIC ID: | CHL1 |
| Gene location on chromosome: | 3p26.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19689 |
| Percent of cancer specimens with mutations: | 1.72 |
| Normal role description: | CHL1 belongs to the L1 gene family of neural cell adhesion molecules and functions as a recognition molecule in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome, a disorder chracterized by distorted facial features including cleft palate; psychomotor- and growth retardation; renal- and gastrointestinal anomalies; and congenital heart defects to name a few. Translocations of 46,Y, t(X;3)(p22.1;p26.3) and t(1;3)(q42.3;p25) have also been implicated in the disorder. |
| Commentary on involvement of protein in cancer: | Only 1 ovarian sample was included in Sanger COSMIC. 4/468 (<1%) of CNS samples were also mutated (mis-sense). |