CCDC50

CCDC50
Identifiers
Aliases	CCDC50 , C3orf6, DFNA44, YMER, coiled-coil domain containing 50
External IDs	OMIM: 611051 HomoloGene: 32655 GeneCards: CCDC50
Gene location (Human)
Chr.	Chromosome 3 (human)
End	191,398,659 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;
	n/a
	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
	n/a
	ENSG00000152492
	n/a
	Q8IVM0
	n/a
	NM_174908 ; NM_178335
	n/a
	NP_777568 ; NP_848018
	n/a
	Wikidata
View/Edit Human

Last updated March 04, 2023

Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.^[3]^[4]^[5]

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000152492 - Ensembl, May 2017
↑ "Human 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000152492 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid14527723-3] 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.

[pmid16803894-4] 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-5] "Entrez Gene: CCDC50 coiled-coil domain containing 50".

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[4]

[5]

CCDC50

Contents

Related Research Articles

References

External links

Further reading