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: | CLTCL1 |
Gene Name: | CLTCL1 |
Protein Full Name: | Clathrin heavy chain 2 |
Alias: | CHC22; Clathrin, heavy chain-like 1; Clathrin, heavy polypeptide-like 1; CLH2; CLH22; CLH-22; CLTCL |
Mass (Da): | 187030 |
Number AA: | 1640 |
UniProt ID: | P53675 |
Locus ID: | 8218 |
COSMIC ID: | CLTCL1 |
Gene location on chromosome: | 22q11 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19925 |
Percent of cancer specimens with mutations: | 1.13 |
Normal role description: | CLTCL1 is a member of the clathrin heavy chain family and fors clathrin coated vesicles. Meningioma is associated with chromosomal aberrations involving this gene, while missense and nonsense mutations are associate with ovarian adenocarcinomas. Since receptor internalization -- a central means of deactivation -- is mediated by these protein, it is likely that loss of function of this CLTCL1 could contribute to sustained pro-growth/anit-apoptotic signals. |
Commentary on involvement of protein in cancer: | Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network |