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; OMA:CCDC115 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	130,342,699 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	34,478,753 bp
RNA expression pattern
	Top expressed in
	mucosa of ileum; ; cardiac muscle tissue of right atrium; ; myocardium of left ventricle; ; skin of arm; ; palpebral conjunctiva; ; prefrontal cortex; ; Brodmann area 9; ; popliteal artery; ; tibial arteries; ; decidua;
	Top expressed in
	primary oocyte; ; embryonic cell; ; zygote; ; secondary oocyte; ; tail of embryo; ; genital tubercle; ; neural layer of retina; ; neural tube; ; ventricular zone; ; upper arm;
	More reference expression data
	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
	84317
	69668
	ENSG00000136710
	ENSMUSG00000042111
	Q96NT0
	Q8VE99
	NM_032357; NM_001321118; NM_001321119
	NM_027159
	NP_001308047; NP_001308048; NP_115733
	NP_081435
	Wikidata
View/Edit Human	View/Edit Mouse

Coiled-coil domain containing 115 is a protein that in humans is encoded by the CCDC115 gene. ^[5]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000136710 – Ensembl, May 2017
^ ^a ^b ^c 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.

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000136710 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042111 – 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.

[entrez-5] "Entrez Gene: Coiled-coil domain containing 115". Retrieved 2017-12-27.

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Function

References

Further reading