CEP120

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) Band 5q23.2 Start 123,344,885 bp End 123,423,592 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 D1 Start 53,814,795 bp End 53,877,680 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon pancreatic epithelial cell thymus germinal epithelium superficial temporal artery synovial membrane secondary oocyte lactiferous duct lymph node cerebellar vermis Top expressed in superior cervical ganglion interventricular septum secondary oocyte hand spermatocyte seminiferous tubule spermatid anterior horn of spinal cord facial motor nucleus ganglionic eminence More reference expression data BioGPS n/a
Gene ontology Molecular function protein C-terminus binding protein binding Cellular component cytoplasm microtubule organizing center centrosome cytoskeleton centriole Biological process regulation of protein localization interkinetic nuclear migration neurogenesis cell population 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: 53.81 – 53.88 Mb PubMed search
Wikidata
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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.

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.

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.