Recombinant Human Centrosomal protein of 164 kDa (CEP164), Truncated

Uniprot Id

Q9UPV0

Target Species

Human

Target Name

CEP164

Target Full Name

Centrosomal protein of 164 kDa

Target 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, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.

Target Involvement

Nephronophthisis 15 (NPHP15)

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus.

Target Tissue Specificity

Expressed in several cell lines.

Target Synonyms

AI450905; BC027092; CE164_HUMAN; Centrosomal protein 164; Centrosomal protein 164kDa; Centrosomal protein of 164 kDa; Cep164; D030051D21; FLJ54767; KIAA1052; MGC38792; mKIAA1052; NPHP15; OTTMUSP00000042044; RGD1560988; RGD1561243

Target Background

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.