CEP120
| CEP120 | |||||||||||||||
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| Identifiers | |||||||||||||||
| Aliases | CEP120, CCDC100, SRTD13, centrosomal protein 120 | ||||||||||||||
| External IDs | MGI: 2147298 HomoloGene: 27415 GeneCards: CEP120 | ||||||||||||||
| Orthologs | |||||||||||||||
| Species | Human | Mouse | |||||||||||||
| Entrez | |||||||||||||||
| Ensembl | |||||||||||||||
| UniProt | |||||||||||||||
| RefSeq (mRNA) | |||||||||||||||
| RefSeq (protein) | |||||||||||||||
| Location (UCSC) | Chr 5: 123.34 – 123.42 Mb | Chr 18: 53.68 – 53.74 Mb | |||||||||||||
| PubMed search | [1] | [2] | |||||||||||||
| Wikidata | |||||||||||||||
| View/Edit Human | View/Edit Mouse |
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.[3][4]
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.[3]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 "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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