SLC44A1 Gene Summary [Human]
Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in high grade glioma. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SLC44A1 |
| Official Name | solute carrier family 44 member 1 [Source:HGNC Symbol;Acc:HGNC:18798] |
| Ensembl ID | ENSG00000070214 |
| Bio databases IDs | |
| Aliases | solute carrier family 44 member 1 |
| Synonyms | 2210409B22RIK, 4833416H08Rik, CD92, CDW92, CHTL1, CONATOC, CTL1, solute carrier family 44 member 1, solute carrier family 44, member 1 |
| 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 SLC44A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- amine/polyamine transporter
- organic cation transporter
- organic alcohol transporter
- choline transporter
- Plasma-membrane choline transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dry eye syndrome
- childhood-onset neurodegeneration with ataxia, tremor, optic atrophy and cognitive decline
- neurodevelopmental disorder
- postural tachycardia syndrome
regulates
- phosphatidylcholine
- choline
role in cell
- accumulation 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.
- Plasma Membrane
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- mitochondrial outer membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC44A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- choline catabolic process
- choline transport
- transmembrane transport
- phosphatidylcholine biosynthetic process
- ethanolamine transport
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- membrane
- mitochondrion
- cytosol
- mitochondrial outer membrane
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- choline transmembrane transporter activity
- antiporter activity
- ethanolamine transmembrane transporter activity