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UniProtKB - Q8N130 (NPT2C_HUMAN)

Entry version 137 (17 Jun 2020)
Sequence version 2 (30 Nov 2010)
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Protein

Sodium-dependent phosphate transport protein 2C

Gene

SLC34A3

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

May be involved in actively transporting phosphate into cells via Na+ cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.

Miscellaneous

A 2:1 stoichiometry to Na+/Pi is observed at pH 7.4.

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=79 µM for phosphate1 Publication

    <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

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <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-5619097 Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

    Protein family/group databases

    Transport Classification Database

    More...    TCDBi    		2.A.58.1.3 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 2C
    Short name:
    Sodium-phosphate transport protein 2C
    Alternative name(s):
    Na(+)-dependent phosphate cotransporter 2C
    Sodium/inorganic phosphate cotransporter IIC
    Sodium/phosphate cotransporter 2C
    Short name:
    Na(+)/Pi cotransporter 2C
    Short name:
    NaPi-2c
    Solute carrier family 34 member 3
    <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:SLC34A3
    Synonyms:NPT2C, NPTIIC
    <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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <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 9

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000198569.9

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:20305 SLC34A3

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		609826 gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q8N130

    <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 – 76CytoplasmicSequence analysisAdd BLAST76
    <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>Transmembranei77 – 97Helical; Name=M1Sequence analysisAdd BLAST21
    Topological domaini98 – 111ExtracellularSequence analysisAdd BLAST14
    Transmembranei112 – 132Helical; Name=M2Sequence analysisAdd BLAST21
    Topological domaini133 – 188CytoplasmicSequence analysisAdd BLAST56
    Transmembranei189 – 209Helical; Name=M3Sequence analysisAdd BLAST21
    Topological domaini210 – 322ExtracellularSequence analysisAdd BLAST113
    Transmembranei323 – 343Helical; Name=M4Sequence analysisAdd BLAST21
    Topological domaini344 – 367CytoplasmicSequence analysisAdd BLAST24
    Transmembranei368 – 388Helical; Name=M5Sequence analysisAdd BLAST21
    Topological domaini389 – 445ExtracellularSequence analysisAdd BLAST57
    Transmembranei446 – 466Helical; Name=M6Sequence analysisAdd BLAST21
    Topological domaini467 – 485CytoplasmicSequence analysisAdd BLAST19
    Transmembranei486 – 506Helical; Name=M7Sequence analysisAdd BLAST21
    Topological domaini507 – 510ExtracellularSequence analysis4
    Transmembranei511 – 531Helical; Name=M8Sequence analysisAdd BLAST21
    Topological domaini532 – 599CytoplasmicSequence analysisAdd BLAST68

    Keywords - Cellular componenti

    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

    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAutosomal 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.
    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_025707138S → F in HHRH. 1 PublicationCorresponds to variant dbSNP:rs141734934Ensembl.1
    Natural variantiVAR_025709192S → L in HHRH. 2 PublicationsCorresponds to variant dbSNP:rs199690076EnsemblClinVar.1
    Natural variantiVAR_025710196G → R in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918237EnsemblClinVar.1
    Natural variantiVAR_025713353R → L in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918234EnsemblClinVar.1
    Natural variantiVAR_025714413A → E in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918235EnsemblClinVar.1
    Natural variantiVAR_025715468R → W in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918238EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		142680

    MalaCards human disease database

    More...    MalaCardsi    		SLC34A3
    MIMi241530 phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000198569

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

    More...    Orphaneti    		157215 Hereditary hypophosphatemic rickets with hypercalciuria

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA134930298

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q8N130 Tbio

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL4295900

    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    		SLC34A3

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		313104149

    <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_00000686171 – 599Sodium-dependent phosphate transport protein 2CAdd BLAST599

    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 residuei4PhosphoserineBy similarity1
    <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>Glycosylationi265N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi268N-linked (GlcNAc...) asparagineSequence analysis1
    <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 bondi276 ↔ 309By similarity
    Glycosylationi286N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi299N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q8N130

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q8N130

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

    More...    PaxDbi    		Q8N130

    PeptideAtlas

    More...    PeptideAtlasi    		Q8N130

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q8N130

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		71531

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q8N130

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

    More...    PhosphoSitePlusi    		Q8N130

    <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

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000198569 Expressed in adult mammalian kidney and 67 other tissues

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q8N130 HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000198569 Tissue enhanced (intestine, 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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Hide details

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		126771, 1 interactor

    Protein interaction database and analysis system

    More...    IntActi    		Q8N130, 5 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000442397

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q8N130 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

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi424 – 427Poly-Thr4

    <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

    More...    eggNOGi    		ENOG410IE8P Eukaryota
    COG1283 LUCA

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00950000183177

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_025063_0_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q8N130

    KEGG Orthology (KO)

    More...    KOi    		K14683

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		NLYLFIC

    Database of Orthologous Groups

    More...    OrthoDBi    		976094at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q8N130

    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
    IPR029850 Na/Pi_transpt_2C

    The PANTHER Classification System

    More...    PANTHERi    		PTHR10010 PTHR10010, 1 hit
    PTHR10010:SF35 PTHR10010:SF35, 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>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

    Q8N130-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL 
            60         70         80         90        100
    KDTSQPWKEL RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL 
           110        120        130        140        150
    GSKVAGDIFK DNVVLSNPVA GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL 
           160        170        180        190        200
    LTVRVSVPII MGVNVGTSIT STLVSMAQSG DRDEFQRAFS GSAVHGIFNW 
           210        220        230        240        250
    LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK VLTKPLTHLI 
           260        270        280        290        300
    VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS 
           310        320        330        340        350
    TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL 
           360        370        380        390        400
    RGRVAQVVRT VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV 
           410        420        430        440        450
    PLMGVGVISL DRAYPLLLGS NIGTTTTALL AALASPADRM LSALQVALIH 
           460        470        480        490        500
    FFFNLAGILL WYLVPALRLP IPLARHFGVV TARYRWVAGV YLLLGFLLLP 
           510        520        530        540        550
    LAAFGLSLAG GMELAAVGGP LVGLVLLVIL VTVLQRRRPA WLPVRLRSWA 
           560        570        580        590 
    WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL
    Length:599
    Mass (Da):63,550
    Last modified:November 30, 2010 - v2
    <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:i3747DE33D0A53E95
    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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    A0A669KB46A0A669KB46_HUMAN
    Sodium-dependent phosphate transpor...
    SLC34A3
    		144Annotation score:

    Annotation score:1 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>
    A0A669KB63A0A669KB63_HUMAN
    Sodium-dependent phosphate transpor...
    SLC34A3
    		353Annotation score:

    Annotation score:1 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_02570667R → H1 PublicationCorresponds to variant dbSNP:rs34372115EnsemblClinVar.1
    Natural variantiVAR_025707138S → F in HHRH. 1 PublicationCorresponds to variant dbSNP:rs141734934Ensembl.1
    Natural variantiVAR_025708180G → A1 PublicationCorresponds to variant dbSNP:rs35643193EnsemblClinVar.1
    Natural variantiVAR_025709192S → L in HHRH. 2 PublicationsCorresponds to variant dbSNP:rs199690076EnsemblClinVar.1
    Natural variantiVAR_025710196G → R in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918237EnsemblClinVar.1
    Natural variantiVAR_025711237D → N1 PublicationCorresponds to variant dbSNP:rs145877051EnsemblClinVar.1
    Natural variantiVAR_025712337G → S1 PublicationCorresponds to variant dbSNP:rs35699762EnsemblClinVar.1
    Natural variantiVAR_025713353R → L in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918234EnsemblClinVar.1
    Natural variantiVAR_025714413A → E in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918235EnsemblClinVar.1
    Natural variantiVAR_025715468R → W in HHRH. 1 PublicationCorresponds to variant dbSNP:rs121918238EnsemblClinVar.1
    Natural variantiVAR_025716513E → V4 PublicationsCorresponds to variant dbSNP:rs28542318Ensembl.1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    DDBJi
    Links Updated
    		AB055000 mRNA Translation: BAB83242.1
    AK095999 mRNA Translation: BAC04667.1
    BX255925 Genomic DNA No translation available.

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS7038.1

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001170787.1, NM_001177316.1
    NP_001170788.1, NM_001177317.1
    NP_543153.1, NM_080877.2
    XP_016869781.1, XM_017014292.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000361134; ENSP00000355353; ENSG00000198569
    ENST00000538474; ENSP00000442397; ENSG00000198569
    ENST00000673835; ENSP00000501114; ENSG00000198569

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		142680

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:142680

    UCSC genome browser

    More...    UCSCi    		uc004cmf.1 human

    Keywords - Coding sequence diversityi

    Polymorphism

    <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
    		AB055000 mRNA Translation: BAB83242.1
    AK095999 mRNA Translation: BAC04667.1
    BX255925 Genomic DNA No translation available.
    CCDSiCCDS7038.1
    RefSeqiNP_001170787.1, NM_001177316.1
    NP_001170788.1, NM_001177317.1
    NP_543153.1, NM_080877.2
    XP_016869781.1, XM_017014292.1

    3D structure databases

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    SWISS-MODEL Interactive Workspace

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

    Protein-protein interaction databases

    BioGRIDi126771, 1 interactor
    IntActiQ8N130, 5 interactors
    STRINGi9606.ENSP00000442397

    Chemistry databases

    ChEMBLiCHEMBL4295900
    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.58.1.3 the phosphate:na(+) symporter (pnas) family

    PTM databases

    iPTMnetiQ8N130
    PhosphoSitePlusiQ8N130

    Polymorphism and mutation databases

    BioMutaiSLC34A3
    DMDMi313104149

    Proteomic databases

    EPDiQ8N130
    MassIVEiQ8N130
    PaxDbiQ8N130
    PeptideAtlasiQ8N130
    PRIDEiQ8N130
    ProteomicsDBi71531

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		18978 118 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		142680

    Genome annotation databases

    EnsembliENST00000361134; ENSP00000355353; ENSG00000198569
    ENST00000538474; ENSP00000442397; ENSG00000198569
    ENST00000673835; ENSP00000501114; ENSG00000198569
    GeneIDi142680
    KEGGihsa:142680
    UCSCiuc004cmf.1 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		142680
    DisGeNETi142680
    EuPathDBiHostDB:ENSG00000198569.9

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		SLC34A3
    HGNCiHGNC:20305 SLC34A3
    HPAiENSG00000198569 Tissue enhanced (intestine, kidney)
    MalaCardsiSLC34A3
    MIMi241530 phenotype
    609826 gene
    neXtProtiNX_Q8N130
    OpenTargetsiENSG00000198569
    Orphaneti157215 Hereditary hypophosphatemic rickets with hypercalciuria
    PharmGKBiPA134930298

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiENOG410IE8P Eukaryota
    COG1283 LUCA
    GeneTreeiENSGT00950000183177
    HOGENOMiCLU_025063_0_0_1
    InParanoidiQ8N130
    KOiK14683
    OMAiNLYLFIC
    OrthoDBi976094at2759
    PhylomeDBiQ8N130
    TreeFamiTF313981

    Enzyme and pathway databases

    ReactomeiR-HSA-427589 Type II Na+/Pi cotransporters
    R-HSA-5619097 Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		142680 1 hit in 786 CRISPR screens

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		SLC34A3

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

    More...    GenomeRNAii    		142680
    PharosiQ8N130 Tbio

    Protein Ontology

    More...    PROi    		PR:Q8N130
    RNActiQ8N130 protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000198569 Expressed in adult mammalian kidney and 67 other tissues
    GenevisibleiQ8N130 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR003841 Na/Pi_transpt
    IPR029850 Na/Pi_transpt_2C
    PANTHERiPTHR10010 PTHR10010, 1 hit
    PTHR10010:SF35 PTHR10010:SF35, 1 hit
    PfamiView protein in Pfam
    PF02690 Na_Pi_cotrans, 2 hits
    TIGRFAMsiTIGR01013 2a58, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    <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 nameiNPT2C_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: Q8N130
    Secondary accession number(s): A2BFA1
    <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: December 20, 2005
    Last sequence update: November 30, 2010
    Last modified: June 17, 2020
    This is version 137 of the entry and version 2 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 chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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