CEP78

CEP78
Identifiers
Aliases	CEP78 , C9orf81, IP63, centrosomal protein 78, CRDHL
External IDs	OMIM: 617110; MGI: 1924386; HomoloGene: 11030; GeneCards: CEP78; OMA:CEP78 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q21.2 Start 78,236,062 bp [1] End 78,279,690 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 A Start 15,933,137 bp [2] End 15,962,353 bp [2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 19: 15.93 – 15.96 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000148019 – Ensembl, May 2017
2. 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

• Human CEP78 genome location and CEP78 gene details page in the UCSC Genome Browser .

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.