CCDC115 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CCDC115 |
| Official Name | coiled-coil domain containing 115 [Source:HGNC Symbol;Acc:HGNC:28178] |
| Ensembl ID | ENSG00000136710 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 115 |
| Synonyms | 2310061I09Rik, Ccp1, CDG2O, coiled-coil domain containing 115, RGD1304653 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CCDC115 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital disorder of glycosylation type 2o
- congenital disorder of glycosylation type 2
regulated by
- WAKMAR1
- black raspberry extract
- phenethyl isothiocyanate
- n-nitrosomethylbenzylamine
regulates
- iron ion
role in cell
- proliferation
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- ER-to-Golgi intermediate compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCDC115 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular iron ion homeostasis
- vacuolar proton-transporting V-type ATPase complex assembly
- lysosomal lumen acidification
Cellular Component
Where in the cell the gene product is active
- endosome
- vacuolar proton-transporting V-type ATPase complex
- membrane
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment
- COPI-coated vesicle
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- unfolded protein binding