CEP63

Last updated
CEP63
Identifiers
Aliases CEP63 , SCKL6, centrosomal protein 63
External IDs OMIM: 614724 MGI: 2158560 HomoloGene: 11861 GeneCards: CEP63
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081122
NM_001301689

RefSeq (protein)
Location (UCSC) Chr 3: 134.49 – 134.59 Mb Chr 9: 102.46 – 102.5 Mb
PubMed search [3] [4]
Wikidata
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Centrosomal protein of 63 kDa is a protein that in humans is encoded by the CEP63 gene. [5] [6] Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.

Function

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [6] Recent computational analysis revealed pathogenic property of L61P point mutation in CEP63 protein that affected its native structural conformation. [7]

Interactions

CEP63 has been shown to interact with DISC1, [8] CEP152 and CDK1. [7]

Related Research Articles

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<span class="mw-page-title-main">CEP104</span> Protein-coding gene in the species Homo sapiens

Centrosomal protein 104kDa is a protein that in humans is encoded by the CEP104 gene. Like its Chlamydomonas ortholog, FAP256, it has been shown to localize to the distal ends of both centrioles in the absence of a cilium. During cilium formation, it is found at the tip of the elongating cilium.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000182923 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032534 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (Dec 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID   14654843. S2CID   4427303.
  6. 1 2 "Entrez Gene: CEP63 centrosomal protein 63kDa".
  7. 1 2 Kumar A, Purohit R (April 2012). "Computational investigation of pathogenic nsSNPs in CEP63 protein". Gene. 503 (1): 75–82. doi:10.1016/j.gene.2012.04.032. PMID   22555018.
  8. Morris JA, Kandpal G, Ma L, Austin CP (July 2003). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation". Hum. Mol. Genet. 12 (13): 1591–608. doi: 10.1093/hmg/ddg162 . PMID   12812986.

Further reading