CEP120

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.[5][6]

CEP120
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4ICW, 4ICX
Identifiers
Aliases	CEP120, CCDC100, SRTD13, centrosomal protein 120, JBTS31
External IDs	OMIM: 613446 MGI: 2147298 HomoloGene: 27415 GeneCards: CEP120
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q23.2 Start 123,344,885 bp[1] End 123,423,592 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 D1 Start 53,681,723 bp[2] End 53,744,608 bp[2]
Gene ontology Molecular function • protein C-terminus binding • GO:0001948 protein binding Cellular component • cytoplasm • microtubule organizing center • centrosome • cytoskeleton • centriole Biological process • regulation of protein localization • interkinetic nuclear migration • neurogenesis • cellular proliferation • regulation of microtubule-based process • astral microtubule organization • microtubule cytoskeleton organization • cerebral cortex development • positive regulation of cilium assembly • positive regulation of centrosome duplication • centrosome cycle • positive regulation of centriole elongation • positive regulation of establishment of protein localization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	153241	225523
Ensembl	ENSG00000168944	ENSMUSG00000048799
UniProt	Q8N960	Q7TSG1
RefSeq (mRNA)	NM_001166226 NM_153223	NM_178686
RefSeq (protein)	NP_001159698 NP_694955 NP_001362334 NP_001362335 NP_001362336 NP_001362337 NP_001362338	NP_848801
Location (UCSC)	Chr 5: 123.34 – 123.42 Mb	Chr 18: 53.68 – 53.74 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000168944 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000048799 - 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. "Entrez Gene: centrosomal protein 120kDa".
6. 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.

External links

• Human CEP120 genome location and CEP120 gene details page in the UCSC Genome Browser.
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Centrosomal protein of 120 kDa (CEP120)

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. S2CID 14965494.
• 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. S2CID 764409.