SLC37A4 Gene Summary [Human]
This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
Details
| Type | Processed Transcript |
| Official Symbol | SLC37A4 |
| Official Name | solute carrier family 37 member 4 [Source:HGNC Symbol;Acc:HGNC:4061] |
| Ensembl ID | ENSG00000137700 |
| Bio databases IDs | |
| Aliases | solute carrier family 37 member 4 |
| Synonyms | CDG2W, G6PT, G6PT1, G6PT2, G6PT3, Glycogen Storage Disease Type Ib, GSD-1b, GSD1c, GSD1d, mG6PT, PRO0685, solute carrier family 37 (glucose-6-phosphate transporter), member 4, solute carrier family 37 member 4, SPX4, TRG-19 |
| 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 SLC37A4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphoglycerate transporter family protein
- glucose-6-phosphate transporter
- nitrite extrusion protein (nitrite facilitator)
- benzoate transport
- glycerol-3-phosphate transporter
- Major Facilitator Superfamily
- hexose-phosphate:inorganic phosphate antiporter
- Multidrug resistance protein
- protein binding
- transporter
- D-galactonate transporter
Pathways
Biological processes and signaling networks where the SLC37A4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glycogen storage disease type Ib
- congenital disorder of glycosylation type 2w
- glycogen storage disease type Ic
- growth failure
- hereditary disorder
- glycogen storage disease type I
- glycogen storage disease
- hepatic steatosis
- congenital disorders of glycosylation
- hypoglycemia
role in cell
- expression in
- cell viability
- vacuolation
- differentiation
- number
- homeostasis
- depletion in
- activation in
- vacuolation in
- 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
- microsomal fraction
- endoplasmic reticulum membrane
- microsome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC37A4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- glucose-6-phosphate transport
- glucose metabolic process
- phosphate ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- glucose-6-phosphate transmembrane transporter activity