This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Function:
Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA,CHK2 and CHK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHK1.
Subcellular Location:
Cytoplasm; cytoskeleton; centrosome; centriole. Nucleus. Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells.
Tissue Specificity:
Expressed in several cell lines.
Post-translational modifications:
Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation.
Similarity:
Contains 1 WW domain.
SWISS:
Q9UPV0
Gene ID:
22897
Database links:
Entrez Gene: 22897 Human
Entrez Gene: 214552 Mouse
Entrez Gene: 363055 Rat
SwissProt: Q9UPV0 Human
SwissProt: Q5DU05 Mouse
Unigene: 504009 Human
Unigene: 260103 Mouse
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