CCDC50

CCDC50
Identifiers
Aliases	CCDC50, C3orf6, DFNA44, YMER, coiled-coil domain containing 50
External IDs	OMIM: 611051 MGI: 1914751 HomoloGene: 32655 GeneCards: CCDC50
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
	Achilles tendon; ; smooth muscle tissue; ; tibialis anterior muscle; ; sperm; ; adipose tissue; ; pancreatic epithelial cell; ; ganglionic eminence; ; gallbladder; ; right uterine tube; ; subcutaneous adipose tissue;
	Top expressed in
	molar; ; renal corpuscle; ; medullary collecting duct; ; extensor digitorum longus muscle; ; aortic valve; ; ascending aorta; ; vastus lateralis muscle; ; sciatic nerve; ; plantaris muscle; ; triceps brachii muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; ubiquitin protein ligase binding;
Cellular component	cytoplasm; cytosol;
Biological process	sensory perception of sound;
	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[edit]

^ ^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[edit]

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

Further reading[edit]

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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