CCDC50

CCDC50
Identifiers
Aliases	CCDC50, C3orf6, DFNA44, YMER, coiled-coil domain containing 50
External IDs	OMIM: 611051; MGI: 1914751; HomoloGene: 32655; GeneCards: CCDC50; OMA:CCDC50 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	191,398,659 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	27,270,968 bp
RNA expression pattern
	Top expressed in
	mucosa of ileum; ; Achilles tendon; ; skin of arm; ; smooth muscle tissue; ; tibialis anterior muscle; ; cardiac muscle tissue of right atrium; ; sperm; ; adipose tissue; ; myocardium of left ventricle; ; pancreatic epithelial cell;
	Top expressed in
	tail of embryo; ; genital tubercle; ; molar; ; renal corpuscle; ; medullary collecting duct; ; vestibular sensory epithelium; ; extensor digitorum longus muscle; ; aortic valve; ; ascending aorta; ; vestibular membrane of cochlear duct;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; ubiquitin protein ligase binding;
Cellular component	cytoplasm; cytosol;
Biological process	hearing;
	Sources:Amigo / QuickGO
Orthologs
	152137
	67501
	ENSG00000152492
	ENSMUSG00000038127
	Q8IVM0
	Q810U5
	NM_174908; NM_178335
	NM_001025615; NM_001289436; NM_026202
	NP_777568; NP_848018
	NP_001020786; NP_001276365; NP_080478
	Wikidata
View/Edit Human	View/Edit Mouse

Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.^[5]^[6]^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000152492 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000038127 – 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.
^ Vazza G, Picelli S, Bozzato A, Mostacciuolo ML (Oct 2003). "Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28". Gene. 314: 113–20. doi:10.1016/S0378-1119(03)00710-8. PMID 14527723.
^ Tashiro K, Konishi H, Sano E, Nabeshi H, Yamauchi E, Taniguchi H (Aug 2006). "Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein". J Biol Chem. 281 (34): 24612–22. doi:10.1074/jbc.M604184200. PMID 16803894.
^ "Entrez Gene: CCDC50 coiled-coil domain containing 50".

External links

Human CCDC50 genome location and CCDC50 gene details page in the UCSC Genome Browser.

Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, et al. (2003). "A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29". Hum. Genet. 112 (1): 24–8. doi:10.1007/s00439-002-0836-x. PMID 12483295. S2CID 8152410.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Blagoev B, Ong SE, Kratchmarova I, Mann M (2005). "Temporal analysis of phosphotyrosine-dependent signaling networks by quantitative proteomics". Nat. Biotechnol. 22 (9): 1139–45. doi:10.1038/nbt1005. PMID 15314609. S2CID 11707801.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Zhang Y, Wolf-Yadlin A, Ross PL, et al. (2005). "Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules". Mol. Cell. Proteomics. 4 (9): 1240–50. doi:10.1074/mcp.M500089-MCP200. PMID 15951569.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Modamio-Hoybjor S, Mencia A, Goodyear R, et al. (2007). "A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss". Am. J. Hum. Genet. 80 (6): 1076–89. doi:10.1086/518311. PMC 1867096. PMID 17503326.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000152492 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038127 – 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.

[pmid14527723-5] Vazza G, Picelli S, Bozzato A, Mostacciuolo ML (Oct 2003). "Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28". Gene. 314: 113–20. doi:10.1016/S0378-1119(03)00710-8. PMID 14527723.

[pmid16803894-6] Tashiro K, Konishi H, Sano E, Nabeshi H, Yamauchi E, Taniguchi H (Aug 2006). "Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein". J Biol Chem. 281 (34): 24612–22. doi:10.1074/jbc.M604184200. PMID 16803894.

[entrez-7] "Entrez Gene: CCDC50 coiled-coil domain containing 50".

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References

External links

Further reading