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Entry version 181 (22 Apr 2020)
Sequence version 1 (01 Feb 1995)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q06495

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC34A1Imported
Synonyms:NPT2By similarity, SLC17A2Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11019 SLC34A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
182309 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q06495

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 103CytoplasmicSequence analysisAdd BLAST103
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs121918610EnsemblClinVar.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:rs121918611EnsemblClinVar.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.
Related information in OMIM
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.
Related information in OMIM
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:rs769409705EnsemblClinVar.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:rs769409705EnsemblClinVar.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:rs876661338EnsemblClinVar.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

DisGeNET

More...
DisGeNETi
6569

MalaCards human disease database

More...
MalaCardsi
SLC34A1
MIMi612286 phenotype
613388 phenotype
616963 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000131183

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
300547 Autosomal recessive infantile hypercalcemia
244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis
3337 Primary Fanconi syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35887

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q06495 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3769299

Drug and drug target database

More...
DrugBanki
DB11348 Calcium Phosphate
DB14481 Calcium phosphate dihydrate
DB14502 Sodium phosphate, dibasic
DB09449 Sodium phosphate, monobasic
DB14503 Sodium phosphate, monobasic, unspecified form

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC34A1

Domain mapping of disease mutations (DMDM)

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DMDMi
730113

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000686071 – 639Sodium-dependent phosphate transport protein 2AAdd BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei14PhosphoserineBy similarity1
Modified residuei34PhosphoserineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi225 ↔ 522By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q06495

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q06495

PeptideAtlas

More...
PeptideAtlasi
Q06495

PRoteomics IDEntifications database

More...
PRIDEi
Q06495

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
58454 [Q06495-1]
58455 [Q06495-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q06495

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q06495

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Kidney and lung.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000131183 Expressed in adult mammalian kidney and 50 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q06495 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q06495 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000131183 Tissue enriched (kidney)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112457, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q06495

Protein interaction database and analysis system

More...
IntActi
Q06495, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000321424

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q06495 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SLC34A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IE8P Eukaryota
COG1283 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183177

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_816244_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q06495

KEGG Orthology (KO)

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KOi
K14683

Identification of Orthologs from Complete Genome Data

More...
OMAi
MAGWRAM

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q06495

TreeFam database of animal gene trees

More...
TreeFami
TF313981

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003841 Na/Pi_transpt
IPR029848 Na/Pi_transpt_2A

The PANTHER Classification System

More...
PANTHERi
PTHR10010 PTHR10010, 1 hit
PTHR10010:SF21 PTHR10010:SF21, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02690 Na_Pi_cotrans, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01013 2a58, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RCE5D6RCE5_HUMAN
Sodium-dependent phosphate transpor...
SLC34A1
109Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:rs121918610EnsemblClinVar.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:rs121918611EnsemblClinVar.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:rs769409705EnsemblClinVar.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:rs769409705EnsemblClinVar.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:rs876661338EnsemblClinVar.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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042311313 – 639APTSM…NATRL → QNLEGREITHFDLRKKQAME DSSVPHCP in isoform 2. 1 PublicationAdd BLAST327

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
L13258 mRNA Translation: AAA36354.1
AK298299 mRNA Translation: BAG60555.1
AC145098 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS4418.1 [Q06495-1]
CCDS54953.1 [Q06495-2]

Protein sequence database of the Protein Information Resource

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PIRi
B48189

NCBI Reference Sequences

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RefSeqi
NP_001161051.1, NM_001167579.1 [Q06495-2]
NP_003043.3, NM_003052.4 [Q06495-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000324417; ENSP00000321424; ENSG00000131183 [Q06495-1]
ENST00000512593; ENSP00000423022; ENSG00000131183 [Q06495-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6569

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6569

UCSC genome browser

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UCSCi
uc003mgk.5 human [Q06495-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi112457, 1 interactor
CORUMiQ06495
IntActiQ06495, 1 interactor
STRINGi9606.ENSP00000321424

Chemistry databases

ChEMBLiCHEMBL3769299
DrugBankiDB11348 Calcium Phosphate
DB14481 Calcium phosphate dihydrate
DB14502 Sodium phosphate, dibasic
DB09449 Sodium phosphate, monobasic
DB14503 Sodium phosphate, monobasic, unspecified form

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

MassIVEiQ06495
PaxDbiQ06495
PeptideAtlasiQ06495
PRIDEiQ06495
ProteomicsDBi58454 [Q06495-1]
58455 [Q06495-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
46041 147 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6569
DisGeNETi6569

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC34A1
HGNCiHGNC:11019 SLC34A1
HPAiENSG00000131183 Tissue enriched (kidney)
MalaCardsiSLC34A1
MIMi182309 gene
612286 phenotype
613388 phenotype
616963 phenotype
neXtProtiNX_Q06495
OpenTargetsiENSG00000131183
Orphaneti300547 Autosomal recessive infantile hypercalcemia
244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis
3337 Primary Fanconi syndrome
PharmGKBiPA35887

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IE8P Eukaryota
COG1283 LUCA
GeneTreeiENSGT00950000183177
HOGENOMiCLU_816244_0_0_1
InParanoidiQ06495
KOiK14683
OMAiMAGWRAM
PhylomeDBiQ06495
TreeFamiTF313981

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC34A1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Sodium/phosphate_cotransporter

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6569
PharosiQ06495 Tbio

Protein Ontology

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PROi
PR:Q06495
RNActiQ06495 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131183 Expressed in adult mammalian kidney and 50 other tissues
ExpressionAtlasiQ06495 baseline and differential
GenevisibleiQ06495 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNPT2A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q06495
Secondary accession number(s): B4DPE3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: April 22, 2020
This is version 181 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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