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)
End	78,279,690 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	15,962,353 bp
RNA expression pattern
	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
	n/a
Orthologs
	84131
	208518
	ENSG00000148019
	ENSMUSG00000041491
	Q5JTW2
	Q6IRU7
NM_001098802; NM_032171; NM_001330691; NM_001330693; NM_001330694;
	NM_001349838; NM_001349839; NM_001349840
	NM_198019
NP_001092272; NP_001317620; NP_001317622; NP_001317623; NP_115547;
	NP_001336767; NP_001336768; NP_001336769
	NP_932136
	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 2 3 GRCh38: Ensembl release 89: ENSG00000148019 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041491 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: centrosomal protein 78kDa".
↑ 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.
↑ 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.

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.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000148019 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: centrosomal protein 78kDa".

[pmid14654843-6] 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.

[Ascari2020-7] 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

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v t e The centrosome and its components
Centrioles	SASS6 CENPJ CNTROB CEP104 Centrins (CETN1, CETN2 and CETN3) SFI1
Pericentriolar material	BBS4 LCK PCM1 PCNT TNKS TNKS2 TUBE1
other proteins	CCP110 CEP55 CEP57 CEP63 CEP68 CEP70 CEP72 CEP76 CEP78 CEP90 CEP97 CEP120 CEP135 CEP152 CEP164 CEP170 CEP192 CEP215 CEP250 CEP350 CNTRL NIN NINL

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CEP78

Clinical

References

External links

Further reading