CEP78

Protein-coding gene in the species Homo sapiens
CEP78
Identifiers
AliasesCEP78, C9orf81, IP63, centrosomal protein 78, CRDHL
External IDsOMIM: 617110; MGI: 1924386; HomoloGene: 11030; GeneCards: CEP78; OMA:CEP78 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for CEP78
Genomic location for CEP78
Band9q21.2Start78,236,062 bp[1]
End78,279,690 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for CEP78
Genomic location for CEP78
Band19|19 AStart15,933,137 bp[2]
End15,962,353 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • buccal mucosa cell

  • ventricular zone

  • pancreatic ductal cell

  • gonad

  • ganglionic eminence

  • testicle

  • granulocyte

  • right testis

  • bronchial epithelial cell
Top expressed in
  • spermatocyte

  • hand

  • ventricular zone

  • tail of embryo

  • epiblast

  • secondary oocyte

  • zygote

  • neural tube

  • genital tubercle

  • primary oocyte
More reference expression data
BioGPS
n/a
Orthologs
SpeciesHumanMouse
Entrez

84131

208518

Ensembl

ENSG00000148019

ENSMUSG00000041491

UniProt

Q5JTW2

Q6IRU7

RefSeq (mRNA)
NM_001098802
NM_032171
NM_001330691
NM_001330693
NM_001330694

NM_001349838
NM_001349839
NM_001349840

NM_198019

RefSeq (protein)
NP_001092272
NP_001317620
NP_001317622
NP_001317623
NP_115547

NP_001336767
NP_001336768
NP_001336769

NP_932136

Location (UCSC)Chr 9: 78.24 – 78.28 MbChr 19: 15.93 – 15.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Centrosomal protein of 78 kDa, also known as Cep78, is a protein that in humans is encoded by the CEP78 gene.[5][6]

Clinical

Mutations in this gene have been associated with cone-rod dystrophy with hearing loss.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000148019 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041491 – 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 78kDa".
  6. ^ Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (December 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
  7. ^ Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T1, De Jaegere S1, Guillemyn B1, De Rycke R13,14, De Bleecker J1, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F (2020) Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility. Hum Mutat

External links

Further reading

  • Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
  • Golsteyn RM, Mundt KE, Fry AM, Nigg EA (1995). "Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function". J. Cell Biol. 129 (6): 1617–28. doi:10.1083/jcb.129.6.1617. PMC 2291169. PMID 7790358.
  • Casenghi M, Meraldi P, Weinhart U, et al. (2003). "Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation". Dev. Cell. 5 (1): 113–25. doi:10.1016/S1534-5807(03)00193-X. PMID 12852856.
  • Mayor T, Stierhof YD, Tanaka K, et al. (2000). "The Centrosomal Protein C-Nap1 Is Required for Cell Cycle–Regulated Centrosome Cohesion". J. Cell Biol. 151 (4): 837–46. doi:10.1083/jcb.151.4.837. PMC 2169446. PMID 11076968.
  • Petretti C, Savoian M, Montembault E, et al. (2006). "The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation". EMBO Rep. 7 (4): 418–24. doi:10.1038/sj.embor.7400639. PMC 1456919. PMID 16462731.
  • 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.
  • Takahashi M, Yamagiwa A, Nishimura T, et al. (2002). "Centrosomal Proteins CG-NAP and Kendrin Provide Microtubule Nucleation Sites by Anchoring γ-Tubulin Ring Complex". Mol. Biol. Cell. 13 (9): 3235–45. doi:10.1091/mbc.E02-02-0112. PMC 124155. PMID 12221128.


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