SLC34A1
entrez
6569
canonical
uniprot
Q06495
canonical
ensembl
ENSG00000131183
resolver
ensp
ENSP00000321424
resolver
ensp
ENSP00000423022
resolver
genesymbol
SLC34A1
resolver
genesymbol_syn
NPT2
resolver
genesymbol_syn
SLC17A2
resolver
hgnc
HGNC:11019
resolver
uniprot
B4DPE3
resolver
uniprot
Q7Z725
resolver
uniprot
Q86VN6
resolver
uniprot_entry
NPT2A_HUMAN
resolver
uniprot_entry
Q7Z725_HUMAN
resolver
uniprot_entry
Q86VN6_HUMAN
resolver
uniprot_sec
B4DPE3
resolver
amino_acid_sequence
MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEHTCPCGEVLERHEPLPAKLALEEEQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLVQSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDCFNWLSVLVLLPLEAATGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHSLIQIWCHPDSLQAPTSMSRAEANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNIGTTTTAILAALASPREKLSSAFQIALCHFFFNISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCCARPEPRSPPLPPRVFLEELPPATPSPRLALPAHHNATRL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:12324554}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fanconi renotubular syndrome 2 (FRTS2) [MIM:613388]: 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. {ECO:0000269|PubMed:20335586}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963]: 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. {ECO:0000269|PubMed:26047794}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:12324554, PubMed:20335586, PubMed:26047794, PubMed:8327470). The cotransport has a Na(+):Pi stoichiometry of 3:1 and is electrogenic (By similarity). {ECO:0000250|UniProtKB:Q06496, ECO:0000269|PubMed:12324554, ECO:0000269|PubMed:20335586, ECO:0000269|PubMed:26047794, ECO:0000269|PubMed:8327470}.
uniprot
proteins
mass_dalton
68937
uniprot
proteins
protein_family
SLC34A transporter family
uniprot
proteins
pubmed
12324554
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
20335586
uniprot
proteins
pubmed
22506049
uniprot
proteins
pubmed
26047794
uniprot
proteins
pubmed
8327470
uniprot
proteins
sequence_length
639
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:26047794}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:20335586}; Multi-pass membrane protein {ECO:0000255}. Note=Localized at the brush border membranes of the proximal tubules. Internalized from the cell surface upon PTH stimulation. {ECO:0000250|UniProtKB:Q06496, ECO:0000250|UniProtKB:Q60825}.
uniprot
proteins
transmembrane_region
TRANSMEM 104..125; /note="Helical; Name=M1"; /evidence="ECO:0000255"; TRANSMEM 146..163; /note="Helical; Name=M2"; /evidence="ECO:0000255"; TRANSMEM 166..185; /note="Helical; Name=M3"; /evidence="ECO:0000255"; TRANSMEM 348..370; /note="Helical; Name=M4"; /evidence="ECO:0000255"; TRANSMEM 413..436; /note="Helical; Name=M5"; /evidence="ECO:0000255"; TRANSMEM 467..487; /note="Helical; Name=M6"; /evidence="ECO:0000255"; TRANSMEM 514..534; /note="Helical; Name=M7"; /evidence="ECO:0000255"; TRANSMEM 540..561; /note="Helical; Name=M8"; /evidence="ECO:0000255
uniprot
proteins