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: | HIVEP1 |
| Gene Name: | HIVEP1 |
| Protein Full Name: | Zinc finger protein 40 |
| Alias: | Cirhin interaction protein; Gate keeper of apoptosis-activating protein; Human immunodeficiency virus type I enhancer-binding protein 1; Major histocompatibility complex-binding protein 1; Positive regulatory domain II-binding factor 1 |
| Mass (Da): | 296846 |
| Number AA: | 2718 |
| UniProt ID: | P15822 |
| Locus ID: | 3096 |
| COSMIC ID: | HIVEP1 |
| Gene location on chromosome: | 6p24-p22.3 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19671 |
| Percent of cancer specimens with mutations: | 1.92 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with some point mutations, but no complex, insertion or deletion mutations. |
| Normal role description: | HIVEP1 is a site-specific transcription factor which binds to the sequence 5'GGGACTTTCC 3'. This enhancer element is found in viral promoters for HIV, SV40 and CMV, as well as cellular promoters encoding MHCI, IL2R and IFN-beta. Isoform 2 and 3 of HIVEP1 is known to regulate p53 tumour suppressor protein expression and thus may have a role in cancer development. However, its exact mechanism is still unknown. |
| Commentary on involvement of protein in cancer: | No entry in Atlasgeneticsoncology.org. Less than 3% mutations in CNS. |