TMEM199 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) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TMEM199 |
| Official Name | transmembrane protein 199 [Source:HGNC Symbol;Acc:HGNC:18085] |
| Ensembl ID | ENSG00000244045 |
| Bio databases IDs | |
| Aliases | transmembrane protein 199 |
| Synonyms | C17orf32, CDG2P, MGC45714, R74819, transmembrane protein 199, VMA12, VPH2 |
| 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 TMEM199 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- oxysterol binding
- Endoplasmic reticulum-based factor for assembly of V-ATPase
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cellular membrane
- Endoplasmic Reticulum
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM199 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
- endoplasmic reticulum membrane
- vacuolar proton-transporting V-type ATPase complex
- endomembrane system
- endoplasmic reticulum
- COPI coated vesicle membrane
- endoplasmic reticulum-Golgi intermediate compartment membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- oxysterol binding