InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC34A1

Summary

InnateDB Protein

IDBP-479624.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC34A1

Protein Name

solute carrier family 34 (sodium phosphate), member 1

Synonyms

FRTS2; NAPI-3; NPHLOP1; NPT2; NPTIIa; SLC11; SLC17A2;

Species

Homo sapiens

Ensembl Protein

ENSP00000423022

InnateDB Gene

IDBG-59893 (SLC34A1)

Protein Structure

UniProt Annotation

Function

May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269PubMed:12324554}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fanconi renotubular syndrome 2 (FRTS2) [MIM:613388]: 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. {ECO:0000269PubMed:20335586}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Kidney and lung.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015293	symporter activity
GO:0015321	sodium-dependent phosphate transmembrane transporter activity

Biological Process

GO:0006811	ion transport
GO:0006814	sodium ion transport
GO:0006817	phosphate ion transport
GO:0010288	response to lead ion
GO:0044341	sodium-dependent phosphate transport
GO:0046686	response to cadmium ion
GO:0046689	response to mercury ion
GO:0055062	phosphate ion homeostasis
GO:0055085	transmembrane transport