SLC34A3
entrez
142680
canonical
uniprot
Q8N130
canonical
ensembl
ENSG00000198569
resolver
ensp
ENSP00000355353
resolver
ensp
ENSP00000442397
resolver
ensp
ENSP00000501114
resolver
enst
ENST00000361134
resolver
enst
ENST00000538474
resolver
enst
ENST00000673835
resolver
genesymbol
SLC34A3
resolver
genesymbol_syn
NPT2C
resolver
genesymbol_syn
NPTIIC
resolver
hgnc
HGNC:20305
resolver
uniprot
A2BFA1
resolver
uniprot_entry
NPT2C_HUMAN
resolver
uniprot_sec
A2BFA1
resolver
amino_acid_sequence
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGRLRRVAGSVLKACGLLGSLYFFICSLDVLSSAFQLLGSKVAGDIFKDNVVLSNPVAGLVIGVLVTALVQSSSTSSSIVVSMVAAKLLTVRVSVPIIMGVNVGTSITSTLVSMAQSGDRDEFQRAFSGSAVHGIFNWLTVLVLLPLESATALLERLSELALGAASLTPRAQAPDILKVLTKPLTHLIVQLDSDMIMSSATGNATNSSLIKHWCGTTGQPTQENSSCGAFGPCTEKNSTAPADRLPCRHLFAGTELTDLAVGCILLAGSLLVLCGCLVLIVKLLNSVLRGRVAQVVRTVINADFPFPLGWLGGYLAVLAGAGLTFALQSSSVFTAAVVPLMGVGVISLDRAYPLLLGSNIGTTTTALLAALASPADRMLSALQVALIHFFFNLAGILLWYLVPALRLPIPLARHFGVVTARYRWVAGVYLLLGFLLLPLAAFGLSLAGGMELAAVGGPLVGLVLLVILVTVLQRRRPAWLPVRLRSWAWLPVWLHSLEPWDRLVTRCCPCNVCSPPKATTKEAYCYENPEILASQQL
uniprot
proteins
disease_involvement
DISEASE: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]: Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. {ECO:0000269|PubMed:16358214, ECO:0000269|PubMed:16358215}. 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:11880379). The cotransport has a Na(+):Pi stoichiometry of 2:1 and is electroneutral (By similarity). {ECO:0000250|UniProtKB:Q80SU6, ECO:0000269|PubMed:11880379}.
uniprot
proteins
mass_dalton
63550
uniprot
proteins
protein_family
SLC34A transporter family
uniprot
proteins
pubmed
11880379
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
16358214
uniprot
proteins
pubmed
16358215
uniprot
proteins
sequence_length
599
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q8K4R8}; Multi-pass membrane protein {ECO:0000255}. Note=ocalized at the brush border membrane in the kidney. {ECO:0000250|UniProtKB:Q8K4R8}.
uniprot
proteins
transmembrane_region
TRANSMEM 77..97; /note="Helical; Name=M1"; /evidence="ECO:0000255"; TRANSMEM 112..132; /note="Helical; Name=M2"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical; Name=M3"; /evidence="ECO:0000255"; TRANSMEM 323..343; /note="Helical; Name=M4"; /evidence="ECO:0000255"; TRANSMEM 368..388; /note="Helical; Name=M5"; /evidence="ECO:0000255"; TRANSMEM 446..466; /note="Helical; Name=M6"; /evidence="ECO:0000255"; TRANSMEM 486..506; /note="Helical; Name=M7"; /evidence="ECO:0000255"; TRANSMEM 511..531; /note="Helical; Name=M8"; /evidence="ECO:0000255
uniprot
proteins