TMEM127 Gene Summary [Human]
This gene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2022]
Details
| Type | Protein Coding |
| Official Symbol | TMEM127 |
| Official Name | transmembrane protein 127 [Source:HGNC Symbol;Acc:HGNC:26038] |
| Ensembl ID | ENSG00000135956 |
| Bio databases IDs | |
| Aliases | transmembrane protein 127 |
| Synonyms | 2310003P10Rik, Hs.355708, RGD1309744, transmembrane protein 127 |
| 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 TMEM127 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme binding
- Transmembrane protein 127
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- pheochromocytoma formation
- abdominal paraganglioma formation
- paraganglioma formation
- hereditary cancer-predisposing syndrome
- hereditary paraganglioma-pheochromocytoma syndrome
- rheumatoid arthritis
- malignant peritoneal mesothelioma
- epithelial peritoneal cancer
- mesothelioma formation
regulated by
role in cell
- proliferation
- abnormal morphology
- organization
- function
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
- Plasma Membrane
- early endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM127 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosome organization
- negative regulation of cell proliferation
- negative regulation of TOR signaling cascade
- regulation of TOR signaling cascade
Cellular Component
Where in the cell the gene product is active
- early endosome
- cytoplasm
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- small GTPase binding