CEP120

CEP120
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCEP120, CCDC100, SRTD13, centrosomal protein 120, JBTS31
External IDsMGI: 2147298 HomoloGene: 27415 GeneCards: CEP120
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q23.2Start123,344,885 bp[1]
End123,423,592 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

153241

225523

Ensembl

ENSG00000168944

ENSMUSG00000048799

UniProt

Q8N960

Q7TSG1

RefSeq (mRNA)

NM_001166226
NM_153223

NM_178686

RefSeq (protein)

NP_001159698
NP_694955

NP_848801

Location (UCSC)Chr 5: 123.34 – 123.42 MbChr 18: 53.68 – 53.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6]

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000168944 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048799 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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.

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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.