SLC34A1

This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants.

Full Name

Solute Carrier Family 34 Member 1

Function

Involved in actively transporting phosphate into cells via Na+ cotransport in the renal brush border membrane (PubMed:26047794, PubMed:8327470, PubMed:12324554, PubMed:20335586).
The cotransport has a Na+:Pi stoichiometry of 3:1 and is electrogenic (By similarity).

Biological Process

Biological Process arsenate ion transmembrane transportIEA:Ensembl
Biological Process cellular phosphate ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular response to metal ionIEA:Ensembl
Biological Process cellular response to parathyroid hormone stimulusIEA:Ensembl
Biological Process cellular response to phosphate starvationIEA:Ensembl
Biological Process cellular response to staurosporineIEA:Ensembl
Biological Process dentinogenesisIEA:Ensembl
Biological Process gentamycin metabolic processIEA:Ensembl
Biological Process glycoprotein metabolic processIEA:Ensembl
Biological Process indole metabolic processIEA:Ensembl
Biological Process kidney developmentIEA:Ensembl
Biological Process ossificationIEA:Ensembl
Biological Process phosphate ion homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process phosphate ion transmembrane transportIEA:Ensembl
Biological Process phosphate ion transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of membrane potentialIEA:Ensembl
Biological Process positive regulation of phosphate transmembrane transportIEA:Ensembl
Biological Process positive regulation of sodium-dependent phosphate transportIEA:Ensembl
Biological Process protein metabolic processTAS:Reactome
Biological Process response to cadmium ionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process response to estradiolIEA:Ensembl
Biological Process response to growth hormoneIEA:Ensembl
Biological Process response to lead ionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process response to magnesium ionIEA:Ensembl
Biological Process response to mercury ionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process response to potassium ionIEA:Ensembl
Biological Process response to thyroid hormoneIEA:Ensembl
Biological Process response to vitamin AIEA:Ensembl
Biological Process response to xenobiotic stimulusIEA:Ensembl
Biological Process sodium ion import across plasma membraneIEA:Ensembl
Biological Process sodium-dependent phosphate transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process tricarboxylic acid metabolic processIEA:Ensembl

Cellular Location

Apical cell membrane
Cell membrane
Localized at the brush border membranes of the proximal tubules.

Involvement in disease

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1):
A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
Fanconi renotubular syndrome 2 (FRTS2):
A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive.
Hypercalcemia, infantile, 2 (HCINF2):
An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.