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Protein

Sodium-dependent phosphate transport protein 2A

Gene

SLC34A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ion transport, Sodium transport, Symport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131183-MONOMER.
ReactomeiR-HSA-427589. Type II Na+/Pi cotransporters.
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-3
Sodium/phosphate cotransporter 2A
Short name:
Na(+)/Pi cotransporter 2A
Short name:
NaPi-2a
Solute carrier family 34 member 1
Gene namesi
Name:SLC34A1
Synonyms:NPT2, SLC17A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:11019. SLC34A1.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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 rs121918610dbSNPEnsembl.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 rs121918611dbSNPEnsembl.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

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

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...)Sequence analysis1
Disulfide bondi306 ↔ 336By similarity
Glycosylationi323N-linked (GlcNAc...)Sequence analysis1
Glycosylationi330N-linked (GlcNAc...)Sequence 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.By similarity1 Publication

Protein-protein interaction databases

BioGridi112457. 1 interactor.
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.
OMAiCPYGEVL.
OrthoDBiEOG091G0DR5.
PhylomeDBiQ06495.
TreeFamiTF313981.

Family and domain databases

InterProiIPR003841. Na/Pi_transpt.
IPR029848. Na/Pi_transpt_2A.
[Graphical view]
PANTHERiPTHR10010:SF21. PTHR10010:SF21. 1 hit.
PfamiPF02690. Na_Pi_cotrans. 2 hits.
[Graphical view]
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 rs121918610dbSNPEnsembl.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 rs121918611dbSNPEnsembl.1
Natural variantiVAR_063812160V → VILVTVLV in FRTS2; loss of function in the homozygous state. 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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ06495.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112457. 1 interactor.
STRINGi9606.ENSP00000321424.

Protein family/group databases

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

PTM databases

iPTMnetiQ06495.
PhosphoSitePlusiQ06495.

Polymorphism and mutation databases

BioMutaiSLC34A1.
DMDMi730113.

Proteomic databases

PaxDbiQ06495.
PeptideAtlasiQ06495.
PRIDEiQ06495.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6569.
DisGeNETi6569.
GeneCardsiSLC34A1.
HGNCiHGNC:11019. SLC34A1.
HPAiHPA051255.
MalaCardsiSLC34A1.
MIMi182309. gene.
612286. phenotype.
613388. phenotype.
neXtProtiNX_Q06495.
OpenTargetsiENSG00000131183.
Orphaneti244305. Dominant hypophosphatemia with nephrolithiasis or osteoporosis.
3337. Primary Fanconi syndrome.
PharmGKBiPA35887.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131183-MONOMER.
ReactomeiR-HSA-427589. Type II Na+/Pi cotransporters.
R-HSA-5683826. Surfactant metabolism.
SignaLinkiQ06495.

Miscellaneous databases

GeneWikiiSodium/phosphate_cotransporter.
GenomeRNAii6569.
PROiQ06495.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131183.
CleanExiHS_SLC17A2.
HS_SLC34A1.
ExpressionAtlasiQ06495. baseline and differential.
GenevisibleiQ06495. HS.

Family and domain databases

InterProiIPR003841. Na/Pi_transpt.
IPR029848. Na/Pi_transpt_2A.
[Graphical view]
PANTHERiPTHR10010:SF21. PTHR10010:SF21. 1 hit.
PfamiPF02690. Na_Pi_cotrans. 2 hits.
[Graphical view]
TIGRFAMsiTIGR01013. 2a58. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNPT2A_HUMAN
AccessioniPrimary (citable) accession number: Q06495
Secondary accession number(s): B4DPE3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: November 30, 2016
This is version 149 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.