ETNK1 Gene Summary [Human]
This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ETNK1 |
| Official Name | ethanolamine kinase 1 [Source:HGNC Symbol;Acc:HGNC:24649] |
| Ensembl ID | ENSG00000139163 |
| Bio databases IDs | |
| Aliases | ethanolamine kinase 1 |
| Synonyms | 1110061E11Rik, 4930555L11Rik, D6Ertd3e, EKI, EKI 1, ethanolamine kinase 1, Locuslink 75320, Nbla10396 |
| 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 ETNK1 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 Kinases, catalytic domain
- spore coat protein, CotS family
- Phosphotransferase enzyme family
- ethanolamine kinase
- enzyme
- 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
- myelodysplastic syndrome
- BCR-ABL negative atypical chronic myeloid leukemia
- BCR-ABL1 negative myelodysplastic-myeloproliferative disease with neutrophilia
- refractive error
regulates
- ethanolamine
- phosphatidylethanolamine
role in cell
- proliferation
- migration
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ETNK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylethanolamine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- ethanolamine kinase activity
- protein binding