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: | KANK1 |
| Gene Name: | KANK1 |
| Protein Full Name: | KN motif and ankyrin repeat domain-containing prot |
| Alias: | ANR15; KANK; Kidney ankyrin repeat-containing protein; KN motif and ankyrin repeat domain-containing protein 1 |
| Mass (Da): | 147289 |
| Number AA: | 1352 |
| UniProt ID: | Q14678 |
| Locus ID: | 23189 |
| COSMIC ID: | KANK1 |
| Gene location on chromosome: | 9p24.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.93 |
| Gene undergoes hypermethylation: | Renal tumours |
| Normal role description: | KANK1 expression is suppressed in a majority of renal tumours/tumour cell lines due to either methylation at CpG sites in the gene or a hemizygous deletion of the KANK1 gene and is therefore believed to function as a tumour suppressor in renal cancer. Defects in KANK1 are also the cause of cerebral palsy spastic quadriplegic type 2, a non-progressive movement disorder with varying degrees of mental retardness, resulting from defects in the developing CNS. |
| Commentary on involvement of protein in cancer: | 1/1 laryngeal sample and 1/468 CNS samples were also mutated. Only 2 ovarian samples were included in Sanger COSMIC. |