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CEP78 (NM_032171) - centrosomal protein 78

Centrosomal Protein Of 78 Kda Isoform B

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of CEP78 protein. View all 2 isoforms
CEP78: centrosomal protein of 78 kDa isoform b
Description:

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].

Strand
+
Chromosome
9
Protein
706 residues
All mutations
113
PTM sites
27
CDS
80,851,266 - 80,881,678
Transcription
80,850,990 - 80,881,983
32.58% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 84131
UniProt
Ensembl