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Protein

Sodium-dependent phosphate transport protein 2A

Gene

SLC34A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in actively transporting phosphate into cells via Na+ cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-427589 Type II Na+/Pi cotransporters
R-HSA-5619040 Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
R-HSA-5683826 Surfactant metabolism
SignaLinkiQ06495

Protein family/group databases

TCDBi2.A.58.1.5 the phosphate:na(+) symporter (pnas) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent phosphate transport protein 2A
Short name:
Sodium-phosphate transport protein 2A
Alternative name(s):
Na(+)-dependent phosphate cotransporter 2A
NaPi-31 Publication
Sodium/phosphate cotransporter 2A
Short name:
Na(+)/Pi cotransporter 2A
Short name:
NaPi-2a
Solute carrier family 34 member 1Imported
Gene namesi
Name:SLC34A1Imported
Synonyms:NPT2By similarity, SLC17A2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000131183.10
HGNCiHGNC:11019 SLC34A1
MIMi182309 gene
neXtProtiNX_Q06495

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 103CytoplasmicSequence analysisAdd BLAST103
Transmembranei104 – 125Helical; Name=M1Sequence analysisAdd BLAST22
Topological domaini126 – 145ExtracellularSequence analysisAdd BLAST20
Transmembranei146 – 163Helical; Name=M2Sequence analysisAdd BLAST18
Topological domaini164 – 165CytoplasmicSequence analysis2
Transmembranei166 – 185Helical; Name=M3Sequence analysisAdd BLAST20
Topological domaini186 – 347ExtracellularSequence analysisAdd BLAST162
Transmembranei348 – 370Helical; Name=M4Sequence analysisAdd BLAST23
Topological domaini371 – 412CytoplasmicSequence analysisAdd BLAST42
Transmembranei413 – 436Helical; Name=M5Sequence analysisAdd BLAST24
Topological domaini437 – 466ExtracellularSequence analysisAdd BLAST30
Transmembranei467 – 487Helical; Name=M6Sequence analysisAdd BLAST21
Topological domaini488 – 513CytoplasmicSequence analysisAdd BLAST26
Transmembranei514 – 534Helical; Name=M7Sequence analysisAdd BLAST21
Topological domaini535 – 539ExtracellularSequence analysis5
Transmembranei540 – 561Helical; Name=M8Sequence analysisAdd BLAST22
Topological domaini562 – 639CytoplasmicSequence analysisAdd BLAST78

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
See also OMIM:612286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02476548A → F in NPHLOP1; causes hypophosphatemic urolithiasis; requires 2 nucleotide substitutions; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect. 1 PublicationCorresponds to variant dbSNP:rs121918610Ensembl.1
Natural variantiVAR_024766147V → 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. 1 PublicationCorresponds to variant dbSNP:rs121918611Ensembl.1
Fanconi renotubular syndrome 2 (FRTS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613388
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063812160V → VILVTVLV in FRTS2; loss of function in the homozygous state. 1 Publication1
Hypercalcemia, infantile, 2 (HCINF2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.
See also OMIM:616963
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07791391 – 97Missing in HCINF2; no change in phosphate transport activity; changed localization to the apical plasma membrane; partial retention inside the cell. 1 Publication7
Natural variantiVAR_077914153G → A in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs769409705Ensembl.1
Natural variantiVAR_077915153G → V in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs769409705Ensembl.1
Natural variantiVAR_077916155L → P in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs369770760Ensembl.1
Natural variantiVAR_077917215R → W in HCINF2. 1 PublicationCorresponds to variant dbSNP:rs577273266Ensembl.1
Natural variantiVAR_077918336C → G in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs876661338Ensembl.1
Natural variantiVAR_077919408V → E in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs140649226Ensembl.1
Natural variantiVAR_077920488W → R in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6569
MalaCardsiSLC34A1
MIMi612286 phenotype
613388 phenotype
616963 phenotype
OpenTargetsiENSG00000131183
Orphaneti244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis
3337 Primary Fanconi syndrome
PharmGKBiPA35887

Chemistry databases

ChEMBLiCHEMBL3769299

Polymorphism and mutation databases

BioMutaiSLC34A1
DMDMi730113

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000686071 – 639Sodium-dependent phosphate transport protein 2AAdd BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14PhosphoserineBy similarity1
Modified residuei34PhosphoserineBy similarity1
Disulfide bondi225 ↔ 522By similarity
Glycosylationi298N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi306 ↔ 336By similarity
Glycosylationi323N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi330N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei508Phosphothreonine; by PKCSequence analysis1
Modified residuei607PhosphoserineBy similarity1
Modified residuei623PhosphothreonineBy similarity1
Modified residuei625PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ06495
PeptideAtlasiQ06495
PRIDEiQ06495

PTM databases

iPTMnetiQ06495
PhosphoSitePlusiQ06495

Expressioni

Tissue specificityi

Kidney and lung.

Gene expression databases

BgeeiENSG00000131183
CleanExiHS_SLC17A2
HS_SLC34A1
ExpressionAtlasiQ06495 baseline and differential
GenevisibleiQ06495 HS

Organism-specific databases

HPAiHPA051255

Interactioni

Subunit structurei

Interacts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1 (PubMed:22506049).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi1124571 interactor.
CORUMiQ06495
STRINGi9606.ENSP00000321424

Structurei

3D structure databases

ProteinModelPortaliQ06495
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLC34A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE8P Eukaryota
COG1283 LUCA
GeneTreeiENSGT00390000005032
HOGENOMiHOG000006550
HOVERGENiHBG079110
InParanoidiQ06495
KOiK14683
OMAiGKRTAKY
OrthoDBiEOG091G0DR5
PhylomeDBiQ06495
TreeFamiTF313981

Family and domain databases

InterProiView protein in InterPro
IPR003841 Na/Pi_transpt
IPR029848 Na/Pi_transpt_2A
PANTHERiPTHR10010 PTHR10010, 1 hit
PTHR10010:SF21 PTHR10010:SF21, 1 hit
PfamiView protein in Pfam
PF02690 Na_Pi_cotrans, 2 hits
TIGRFAMsiTIGR01013 2a58, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q06495-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLSYGERLGS PAVSPLPVRG GHVMRGTAFA YVPSPQVLHR IPGTSAYAFP
60 70 80 90 100
SLGPVALAEH TCPCGEVLER HEPLPAKLAL EEEQKPESRL VPKLRQAGAM
110 120 130 140 150
LLKVPLMLTF LYLFVCSLDM LSSAFQLAGG KVAGDIFKDN AILSNPVAGL
160 170 180 190 200
VVGILVTVLV QSSSTSTSII VSMVSSGLLE VSSAIPIIMG SNIGTSVTNT
210 220 230 240 250
IVALMQAGDR TDFRRAFAGA TVHDCFNWLS VLVLLPLEAA TGYLHHITRL
260 270 280 290 300
VVASFNIHGG RDAPDLLKII TEPFTKLIIQ LDESVITSIA TGDESLRNHS
310 320 330 340 350
LIQIWCHPDS LQAPTSMSRA EANSSQTLGN ATMEKCNHIF VDTGLPDLAV
360 370 380 390 400
GLILLAGSLV LLCTCLILLV KMLNSLLKGQ VAKVIQKVIN TDFPAPFTWV
410 420 430 440 450
TGYFAMVVGA SMTFVVQSSS VFTSAITPLI GLGVISIERA YPLTLGSNIG
460 470 480 490 500
TTTTAILAAL ASPREKLSSA FQIALCHFFF NISGILLWYP VPCTRLPIRM
510 520 530 540 550
AKALGKRTAK YRWFAVLYLL VCFLLLPSLV FGISMAGWQV MVGVGTPFGA
560 570 580 590 600
LLAFVVLINV LQSRSPGHLP KWLQTWDFLP RWMHSLKPLD HLITRATLCC
610 620 630
ARPEPRSPPL PPRVFLEELP PATPSPRLAL PAHHNATRL
Length:639
Mass (Da):68,937
Last modified:February 1, 1995 - v1
Checksum:i65D21D968C35D61B
GO
Isoform 2 (identifier: Q06495-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-639: APTSMSRAEA...LPAHHNATRL → QNLEGREITHFDLRKKQAMEDSSVPHCP

Show »
Length:340
Mass (Da):36,603
Checksum:i829AAD6A913307A4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02476548A → F in NPHLOP1; causes hypophosphatemic urolithiasis; requires 2 nucleotide substitutions; results in lower phosphate current, decreases affinity for phosphate and decreases phosphate uptake compared to wild-type; shows a dominant-negative effect. 1 PublicationCorresponds to variant dbSNP:rs121918610Ensembl.1
Natural variantiVAR_07791391 – 97Missing in HCINF2; no change in phosphate transport activity; changed localization to the apical plasma membrane; partial retention inside the cell. 1 Publication7
Natural variantiVAR_024766147V → 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. 1 PublicationCorresponds to variant dbSNP:rs121918611Ensembl.1
Natural variantiVAR_077914153G → A in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs769409705Ensembl.1
Natural variantiVAR_077915153G → V in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs769409705Ensembl.1
Natural variantiVAR_077916155L → P in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs369770760Ensembl.1
Natural variantiVAR_063812160V → VILVTVLV in FRTS2; loss of function in the homozygous state. 1 Publication1
Natural variantiVAR_077917215R → W in HCINF2. 1 PublicationCorresponds to variant dbSNP:rs577273266Ensembl.1
Natural variantiVAR_077918336C → G in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs876661338Ensembl.1
Natural variantiVAR_077919408V → E in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; a complete intracellular retention and no detectable actin colocalization. 1 PublicationCorresponds to variant dbSNP:rs140649226Ensembl.1
Natural variantiVAR_077920488W → R in HCINF2; loss of phosphate transport activity; loss of localization to apical plasma membrane; display a complete intracellular retention and no detectable actin colocalization. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042311313 – 639APTSM…NATRL → QNLEGREITHFDLRKKQAME DSSVPHCP in isoform 2. 1 PublicationAdd BLAST327

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13258 mRNA Translation: AAA36354.1
AK298299 mRNA Translation: BAG60555.1
AC145098 Genomic DNA No translation available.
CCDSiCCDS4418.1 [Q06495-1]
CCDS54953.1 [Q06495-2]
PIRiB48189
RefSeqiNP_001161051.1, NM_001167579.1 [Q06495-2]
NP_003043.3, NM_003052.4 [Q06495-1]
UniGeneiHs.936

Genome annotation databases

EnsembliENST00000324417; ENSP00000321424; ENSG00000131183 [Q06495-1]
ENST00000512593; ENSP00000423022; ENSG00000131183 [Q06495-2]
GeneIDi6569
KEGGihsa:6569
UCSCiuc003mgk.5 human [Q06495-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNPT2A_HUMAN
AccessioniPrimary (citable) accession number: Q06495
Secondary accession number(s): B4DPE3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: April 25, 2018
This is version 163 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome