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: | HMGA1 |
| Gene Name: | HMGA1 |
| Protein Full Name: | High mobility group AT-hook 1 |
| Mass (Da): | 10679 |
| Number AA: | 96 |
| UniProt ID: | P17096 |
| Locus ID: | 3159 |
| COSMIC ID: | HMGA1 |
| Gene location on chromosome: | 6p21.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19805 |
| Percent of cancer specimens with mutations: | 0.03 |
| Deregulated in translocations: | Translocation t(6;14) (p21.3; q24) and inversions inv(6)(p21q21) & inv(6)(p21.3q26) leading to truncated proteins, and inversion inv(6)(p21q21) --> HMGIY fusion with LAMA4 have been described in pulmonary chondroid hamartoma; Translocation t(3;6)(q28;p21) |
| Normal role description: | HMGA1 binds preferentially to the minor groove of A+T rich regions in dsDNA. It is suggested that it could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. It is also involved in the transcription regulation of genes containing, or in close proximity to AT-rich regions. It is invloved in the regulation of gene transcription, integration of retroviruses into chromosomes, and metastasis of cancer cells. Reduction of HMGA1 mRNA has been associated with decreased expression of the insulin receptor in 7 -8% of patients with type II diabetes. The gene has also been found to be involved in chromosome rearrangements in benign, mainly mesenchymal, tumours. |