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: | L1CAM |
| Gene Name: | L1CAM |
| Protein Full Name: | Neural cell adhesion molecule L1 |
| Alias: | CAML; CAML1; CD171; CD171 antigen; HSAS; HSAS1; L1 cell adhesion molecule; MASA; MIC5; Neural cell adhesion molecule L1; S10; SPG1 |
| Mass (Da): | 140003 |
| Number AA: | 1257 |
| UniProt ID: | P32004 |
| Locus ID: | 3897 |
| COSMIC ID: | L1CAM |
| Gene location on chromosome: | Xq28 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19626 |
| Percent of cancer specimens with mutations: | 1.4 |
| 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: | L1CAM is an axonal glycoprotein that belongs to the immunoglobulin supergene family. It functions as a cell adhesion molecule and plays an important role in the development of the nervous system, including in neuronal migration and differentiation. Mutations of the gene have been linked to a number of neurological syndromes, including; hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS); mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA); spastic paraplegia X-linked type 1 (SPG1); partial agenesis of the corpus callosum (ACCPX); and Hirschsprung disease (indirectly). It is over-expressed in a number of cancers, and its expression promotes tumour invasiveness and chemoresistance. |
| Commentary on involvement of protein in cancer: | 1/45 CNS tumours were also mutated |