CEP78, centrosomal protein 78

CEP78, centrosomal protein 78

• This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]

• Gene Synonyms (centrosomal protein of 78 kDa, centrosomal protein 78kDa, C9orf81, CRDHL, IP63,)
• NCBI Gene ID: 84131
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q5JTW2
  UNIPROT ID#>>A8MST6
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

centrosomal protein 78 interacts with:

• assembly factor for spindle microtubules
  centrosomal protein 120
  centrosomal protein 78
  zinc finger protein 324B

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.