SLC34A1 Gene Summary [Human]
Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; phosphate ion transport; and response to lead ion. Located in several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SLC34A1 |
| Official Name | solute carrier family 34 member 1 [Source:HGNC Symbol;Acc:HGNC:11019] |
| Ensembl ID | ENSG00000131183 |
| Bio databases IDs | |
| Aliases | solute carrier family 34 member 1, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2, Na+-phosphate cotransporter type II |
| Synonyms | FRTS2, HCINF2, NaPi-2, NaPi2A, NAPI-3, Na/Pi Cotransporter Type 2a, Napi iia, NPHLOP1, NPT2, Npt2a, NPTIIa, SLC11, SLC17A2, solute carrier family 34 member 1, solute carrier family 34 (sodium phosphate), 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 SLC34A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- Phosphate:Na+ Symporter (PNaS) Family
- protein binding
- sodium:phosphate symporter
- identical protein binding
- transporter
- PDZ-domain binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- urolithiasis
- chronic kidney disease
- hypophosphatemic nephrolithiasis/osteoporosis type 1
- infantile hypercalcemia type 2
- infantile hypercalcemia
- Fanconi renotubular syndrome type 2
- nephrocalcinosis
- hypercalcemia
- hypophosphatemia
- phosphaturia
role in cell
- expression in
- density
- branching
- morphology
- response
- flux in
- connectivity
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
- membrane vesicles
- membrane fraction
- cell surface
- apical compartment
- perinuclear region
- cellular membrane
- endosomes
- vesicles
- cytosol
- primary cilia
- apical cell surfaces
- apical membrane
- basolateral membrane
- nucleoplasm
- nuclear speckles
- brush border
- microvilli
- mitotic spindle
- brush border membrane vesicles
- Golgi vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC34A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein metabolic process
- positive regulation of sodium-dependent phosphate transport
- indole metabolic process
- response to xenobiotic stimulus
- dentinogenesis
- response to thyroid hormone stimulus
- phosphate ion transport
- ossification
- kidney development
- cellular response to parathyroid hormone stimulus
- sodium-dependent phosphate transport
- response to magnesium ion
- cellular response to phosphate starvation
- phosphate ion transmembrane transport
- cellular phosphate ion homeostasis
- positive regulation of membrane potential
- phosphate ion homeostasis
- glycoprotein metabolic process
- response to growth hormone stimulus
- response to mercury ion
- response to cadmium ion
- tricarboxylic acid metabolic process
- response to estradiol stimulus
- cellular response to metal ion
- response to vitamin A
- positive regulation of phosphate transmembrane transport
- response to lead ion
- response to potassium ion
Cellular Component
Where in the cell the gene product is active
- nuclear speck
- plasma membrane
- cell surface
- nucleoplasm
- perinuclear region of cytoplasm
- brush border membrane
- endosome
- mitotic spindle
- brush border
- vesicle
- cytosol
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- sodium:phosphate symporter activity
- identical protein binding
- protein binding
- PDZ domain binding