Biology:CEP126
From HandWiki
Centrosomal protein of 126 kDa (or Cep126) is a protein that in humans is encoded by the CEP126 gene (previously KIAA1377).[1][2] The Cep126 protein has been shown to localize to the centrosome. Furthermore, it is found at pericentriolar satellites and the base of the primary cilium. Depleting Cep126 leads to dispersion of pericentriolar satellites, in turn disrupting microtubule organization at the mitotic spindle.[3]
Clinical relevance
Mutations in this gene have been found to cause monomelic amyotrophy.[4]
References
- ↑ "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res 7 (1): 65–73. Apr 2000. doi:10.1093/dnares/7.1.65. PMID 10718198.
- ↑ "Entrez Gene: KIAA1377 KIAA1377". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=57562.
- ↑ "Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation". Biology of the Cell 106 (8): 254–267. May 27, 2014. doi:10.1111/boc.201300087. PMID 24867236.
- ↑ "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.". Neuromuscular Disorders 22 (5): 394–400. Jan 18, 2012. doi:10.1016/j.nmd.2011.11.006. PMID 22264561.
Further reading
- "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.". Mol. Vis. 8: 196–204. 2002. PMID 12107411.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. 2004. doi:10.1093/hmg/ddg162. PMID 12812986.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease.". Mol. Cell 15 (6): 853–65. 2004. doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. 2005. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
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