CCDC50

Protein-coding gene in humans
CCDC50
Identifiers
AliasesCCDC50, C3orf6, DFNA44, YMER, coiled-coil domain containing 50
External IDsOMIM: 611051; MGI: 1914751; HomoloGene: 32655; GeneCards: CCDC50; OMA:CCDC50 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for CCDC50
Genomic location for CCDC50
Band3q28Start191,329,085 bp[1]
End191,398,659 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for CCDC50
Genomic location for CCDC50
Band16 B2|16 18.98 cMStart27,207,619 bp[2]
End27,270,968 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • ubiquitin protein ligase binding
Cellular component
  • cytoplasm
  • cytosol
Biological process
  • hearing
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

152137

67501

Ensembl

ENSG00000152492

ENSMUSG00000038127

UniProt

Q8IVM0

Q810U5

RefSeq (mRNA)

NM_174908
NM_178335

NM_001025615
NM_001289436
NM_026202

RefSeq (protein)

NP_777568
NP_848018

NP_001020786
NP_001276365
NP_080478

Location (UCSC)Chr 3: 191.33 – 191.4 MbChr 16: 27.21 – 27.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152492 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ "Entrez Gene: CCDC50 coiled-coil domain containing 50".

Further reading

  • 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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