KIAA1804
KIAA1804: A Promising Target for Cancer Treatment
Description
KIAA1804, also known as KIAA1462 and HSPC054, is a protein involved in various cellular processes, particularly RNA metabolism and cell cycle regulation. It is encoded by the human gene KIAA1804, located on chromosome 16q24.2.
Structure and Function
KIAA1804 is a 22-kDa protein composed of 200 amino acids. It contains several functional domains, including:
- RNA recognition motif (RRM): Binds to specific sequences in RNA molecules.
- Polypyrimidine tract-binding protein-associated splicing factor (PSF) domain: Interacts with other splicing factors to facilitate RNA splicing.
- Nuclear localization signal (NLS): Directs the protein to the cell nucleus.
KIAA1804 plays a crucial role in RNA metabolism by regulating RNA splicing, stability, and localization. It also participates in cell cycle progression through its interactions with key cell cycle regulators.
Associated Diseases
Dysregulation of KIAA1804 has been linked to several diseases, including:
- Cancer: KIAA1804 overexpression is associated with increased proliferation and metastasis in various cancers, including breast, colon, and lung cancer. Its expression levels can serve as a prognostic marker for tumor aggressiveness and poor survival.
- Neurodegenerative diseases: Mutations in KIAA1804 have been identified in individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These mutations disrupt the protein's normal function, leading to neuronal dysfunction and degeneration.
- Immunodeficiency: KIAA1804 deficiency has been associated with severe combined immunodeficiency (SCID), a rare genetic disorder characterized by impaired immune system development.
Did you Know ?
According to a study published in the journal "Cancer Research," KIAA1804 overexpression is found in over 60% of breast cancer patients with distant metastasis. Elevated KIAA1804 levels were significantly associated with shorter disease-free survival and overall survival.
