Aliases for CCDC115 Gene
External Ids for CCDC115 Gene
Previous GeneCards Identifiers for CCDC115 Gene
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]
GeneCards Summary for CCDC115 Gene
CCDC115 (Coiled-Coil Domain Containing 115) is a Protein Coding gene. Diseases associated with CCDC115 include Congenital Disorder Of Glycosylation, Type Iio and Congenital Disorder Of Glycosylation, Type Ii.
UniProtKB/Swiss-Prot for CCDC115 Gene
Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833332).