Coiled-coil domain containing 115

CCDC115
Identifiers
Aliases	CCDC115, ccp1, CDG2O, coiled-coil domain containing 115
External IDs	OMIM: 613734 MGI: 1916918 HomoloGene: 13015 GeneCards: CCDC115
Gene location (Human) Chr. Chromosome 2 (human) Band 2q21.1 Start 130,337,933 bp End 130,342,699 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 B Start 34,475,751 bp End 34,478,753 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in palpebral conjunctiva prefrontal cortex Brodmann area 9 popliteal artery right coronary artery urethra cingulate gyrus monocyte pons canal of the cervix Top expressed in secondary oocyte neural tube upper arm olfactory epithelium morula yolk sac ganglionic eminence bone marrow autopod region lens More reference expression data BioGPS n/a
Gene ontology Molecular function unfolded protein binding Cellular component membrane endosome lysosome COPI-coated vesicle cytoplasmic vesicle endoplasmic reticulum-Golgi intermediate compartment extrinsic component of endoplasmic reticulum membrane vacuolar proton-transporting V-type ATPase complex endoplasmic reticulum Biological process cellular iron ion homeostasis lysosomal lumen acidification cellular response to increased oxygen levels lysosomal protein catabolic process vacuolar proton-transporting V-type ATPase complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84317 69668 Ensembl ENSG00000136710 ENSMUSG00000042111 UniProt Q96NT0 Q8VE99 RefSeq (mRNA) NM_032357 NM_001321118 NM_001321119 NM_027159 RefSeq (protein) NP_001308047 NP_001308048 NP_115733 NP_081435 Location (UCSC) Chr 2: 130.34 – 130.34 Mb Chr 1: 34.48 – 34.48 Mb PubMed search
Wikidata
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Coiled-coil domain containing 115 is a protein that in humans is encoded by the CCDC115 gene.

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].

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.