Coiled-coil domain containing 115
Coiled-coil domain containing 115 is a protein that in humans is encoded by the CCDC115 gene. [5]
| CCDC115 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CCDC115, ccp1, CDG2O, coiled-coil domain containing 115 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613734 MGI: 1916918 HomoloGene: 13015 GeneCards: CCDC115 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016].
References
- GRCh38: Ensembl release 89: ENSG00000136710 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000042111 - 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: Coiled-coil domain containing 115". Retrieved 2017-12-27.
Further reading
- Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ (2016). "CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation". Am. J. Hum. Genet. 98 (2): 310–21. doi:10.1016/j.ajhg.2015.12.010. PMC 4746332. PMID 26833332.
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