centrosomal protein of 152 kD (Cep152, KIAA0912)

Function

• regulator of genomic integrity & cellular response to DNA damage acting through ATR-mediated checkpoint signaling necessary for centrosome duplication
• functions as a molecular scaffold facilitating interaction of PLK4 & CENPJ, two protein involved in centriole formation
• interacts (via N-terminus) with PLK4
• interacts (via C-terminus) with CENPJ (via-N-terminus)
• interacts with CINP

Compartment

• cytoplasm, cytoskeleton, centrosome

Alternative splicing

named isoforms=3

Pathology

• defects in CEP152 are the cause
  • primary microcephaly type 4
  • Seckel syndrome type 5

More general terms

• centrosomal protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=22995
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:22995
• OMIM: https://mirror.omim.org/entry/604321
• OMIM: https://mirror.omim.org/entry/613529
• OMIM: https://mirror.omim.org/entry/613823
• UniProt: http://www.uniprot.org/uniprot/O94986.html