CEP120

Protein-coding gene in the species Homo sapiens
CEP120
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4ICW, 4ICX

Identifiers
AliasesCEP120, CCDC100, SRTD13, centrosomal protein 120, JBTS31
External IDsOMIM: 613446; MGI: 2147298; HomoloGene: 27415; GeneCards: CEP120; OMA:CEP120 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for CEP120
Genomic location for CEP120
Band5q23.2Start123,344,885 bp[1]
End123,423,592 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for CEP120
Genomic location for CEP120
Band18|18 D1Start53,814,795 bp[2]
End53,877,680 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • pancreatic epithelial cell

  • mucosa of paranasal sinus

  • thymus

  • germinal epithelium

  • superficial temporal artery

  • synovial membrane

  • secondary oocyte

  • cardiac muscle tissue of right atrium

  • epithelium of lactiferous gland
Top expressed in
  • superior cervical ganglion

  • interventricular septum

  • secondary oocyte

  • zygote

  • neural layer of retina

  • hand

  • primary oocyte

  • spermatocyte

  • seminiferous tubule

  • spermatid
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
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_001362334
NP_001362335
NP_001362336

NP_001362337
NP_001362338

NP_848801

Location (UCSC)Chr 5: 123.34 – 123.42 MbChr 18: 53.81 – 53.88 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000168944 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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