CEP120
| Centrosomal protein 120kDa | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CEP120 ; CCDC100 | ||||||||||||
| External IDs | OMIM: 613446 MGI: 2147298 HomoloGene: 27415 GeneCards: CEP120 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 153241 | 225523 | |||||||||||
| Ensembl | ENSG00000168944 | ENSMUSG00000048799 | |||||||||||
| UniProt | Q8N960 | Q7TSG1 | |||||||||||
| RefSeq (mRNA) | NM_001166226 | NM_178686 | |||||||||||
| RefSeq (protein) | NP_001159698 | NP_848801 | |||||||||||
| Location (UCSC) | Chr 5: 122.68 – 122.76 Mb | Chr 18: 53.68 – 53.74 Mb | |||||||||||
| PubMed search | |||||||||||||
Centrosomal protein of 120 kDa (Cep120), also known as coiled-coil domain-containing protein 100, is a protein that in humans is encoded by the CEP120 gene.[1][2]
Function
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects.[1]
References
- ↑ 1.0 1.1 "Entrez Gene: centrosomal protein 120kDa".
- ↑ Xie Z, Moy LY, Sanada K, Zhou Y, Buchman JJ, Tsai LH (October 2007). "Cep120 and TACCs Control Interkinetic Nuclear Migration and the Neural Progenitor Pool". Neuron 56 (1): 79–93. doi:10.1016/j.neuron.2007.08.026. PMC 2642594. PMID 17920017.
Further reading
- Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Vasan RS, Glazer NL, Felix JF et al. (2009). "Genetic Variants Associated With Cardiac Structure and Function: A Meta-analysis and Replication of Genome-wide Association Data". JAMA 302 (2): 168–78. doi:10.1001/jama.2009.978-a. PMC 2975567. PMID 19584346.
- Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Guerrier S, Polleux F (2007). "The ups and downs of neural progenitors: Cep120 and TACCs control interkinetic nuclear migration". Neuron 56 (1): 1–3. doi:10.1016/j.neuron.2007.09.019. PMID 17920006.
- Thorleifsson G, Walters GB, Gudbjartsson DF et al. (2009). "Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity". Nat. Genet. 41 (1): 18–24. doi:10.1038/ng.274. PMID 19079260.
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