Aliases for PTTG1 Gene
External Ids for PTTG1 Gene
Previous HGNC Symbols for PTTG1 Gene
Previous GeneCards Identifiers for PTTG1 Gene
The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
GeneCards Summary for PTTG1 Gene
PTTG1 (Pituitary Tumor-Transforming 1) is a Protein Coding gene. Diseases associated with PTTG1 include Thyroid Cancer and Thymic Hyperplasia. Among its related pathways are HTLV-I infection and Mitotic Metaphase and Anaphase. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is PTTG2.
UniProtKB/Swiss-Prot for PTTG1 Gene
Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity and related apoptosis activity of TP53. The negative regulation of TP53 may explain the strong transforming capability of the protein when it is overexpressed. May also play a role in DNA repair via its interaction with Ku, possibly by connecting DNA damage-response pathways with sister chromatid separation.