SLC34A1
Protein name:
NaPi-IIa
Aliases:
Napi-3, NPT2, npt2
Substrates:
inorganic phosphate (divalent)
Transport type:
Cotransporter / Na, HPO42-
Tissue and cellular expression:
kidney (proximal tubule), osteoclasts, neurons
Subcellular expression:
apical membrane (kidney)
Disease:
G/XLH, G/ADHR, A/OHO, nephrocalciosis, hypo-phosphatemia, urolithiasis, osteoporosis
Locus:
5q35
Sequence ID:
NP_001161051.1,
NM_001167579.1
NP_003043.3,
NM_003052.4
Gene ID:
6569
Splice variants:
N/D
NPT2A_HUMAN (UniProt)
Gene names:
SLC34A1, NPT2, SLC17A2
Protein names and data:
NPT2A_HUMAN, Full=Sodium-dependent phosphate transport protein 2A;Short=Sodium-phosphate transport protein 2A, Full=Na(+)-dependent phosphate cotransporter 2A;Full=NaPi-3;Full=Sodium/phosphate cotransporter 2A;Short=Na(+)/Pi cotransporter 2A;Short=NaPi-2a;Full=Solute carrier family 34 member 1;
Length: 639 a.a., Mass: 68937 Da,
fasta formatted sequence
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
Disease:
(OMIM:
182309 612286 613388)
Defects in SLC34A1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]. Hypophosphatemia results from idiopathic renal phosphate loss. It contributes to the pathogenesis of hypophosphatemic urolithiasis (formation of urinary calculi) as well to that of hypophosphatemic osteoporosis (bone demineralization); Defects in SLC34A1 are the cause of Fanconi renotubular syndrome type 2 (FRTS2) [MIM:613388]. It is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to 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
Cellular location:
Membrane; Multi-pass membrane protein
Tissue specificity:
Kidney and lung
Database cross-references
UniProt:
Q06495
NextBio:
25559
OMIM:
182309
612286
613388
Ensembl:
ENST00000512593
GeneCard:
GC05P177380
PharmGenUCSF:
SLC34A1
Guide to Pharmacology:
SLC34A1 (1135)
SLC34 family of sodium phosphate co-transporters (1135)
HGNC:
HGNC:11019
Genetic variants
See also Ensembl:ENST00000512593
48 - 48
A -> F (in NPHLOP1; causes hypophosphatemic urolithiasis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect; requires 2 nucleotide substitutions). VAR_024765
147 - 147
V -> M (in NPHLOP1; causes hypophosphatemic osteoporosis; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect). VAR_024766
160 - 160
V -> VILVTVLV (in FRTS2; loss of function in the homozygous state). VAR_063812