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UniProtKB - Q8N130 (NPT2C_HUMAN)

Protein

Sodium-dependent phosphate transport protein 2C

Gene

SLC34A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 20-30% of the apical influx.

Miscellaneous

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

Kineticsi

  1. KM=79 µM for phosphate1 Publication

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the complete GO annotation on QuickGO ...

    Keywordsi

    Biological processIon transport, Sodium transport, Symport, Transport
    LigandSodium

    Enzyme and pathway databases

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

    Protein family/group databases

    TCDBi2.A.58.1.3 the phosphate:na(+) symporter (pnas) family

    Names & Taxonomyi

    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
    Gene namesi
    Name:SLC34A3
    Synonyms:NPT2C, NPTIIC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome 9

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000198569.9
    HGNCiHGNC:20305 SLC34A3
    MIMi609826 gene
    neXtProtiNX_Q8N130

    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 – 76CytoplasmicSequence analysisAdd BLAST76
    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

    Pathology & Biotechi

    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.
    See also OMIM:241530
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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

    DisGeNETi142680
    MalaCardsiSLC34A3
    MIMi241530 phenotype
    OpenTargetsiENSG00000198569
    Orphaneti157215 Hereditary hypophosphatemic rickets with hypercalciuria
    PharmGKBiPA134930298

    Polymorphism and mutation databases

    BioMutaiSLC34A3
    DMDMi313104149

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000686171 – 599Sodium-dependent phosphate transport protein 2CAdd BLAST599

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei4PhosphoserineBy similarity1
    Glycosylationi265N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi268N-linked (GlcNAc...) asparagineSequence analysis1
    Disulfide bondi276 ↔ 309By similarity
    Glycosylationi286N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi299N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    EPDiQ8N130
    PaxDbiQ8N130
    PeptideAtlasiQ8N130
    PRIDEiQ8N130
    ProteomicsDBi71531

    PTM databases

    iPTMnetiQ8N130
    PhosphoSitePlusiQ8N130

    Expressioni

    Gene expression databases

    BgeeiENSG00000198569 Expressed in 68 organ(s), highest expression level in adult mammalian kidney
    CleanExiHS_SLC34A3
    GenevisibleiQ8N130 HS

    Organism-specific databases

    HPAiHPA023776

    Interactioni

    Protein-protein interaction databases

    BioGridi126771, 1 interactor
    IntActiQ8N130, 3 interactors
    STRINGi9606.ENSP00000355353

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N130
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Compositional biasi424 – 427Poly-Thr4

    Sequence similaritiesi

    Belongs to the SLC34A transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiENOG410IE8P Eukaryota
    COG1283 LUCA
    GeneTreeiENSGT00390000005032
    HOGENOMiHOG000006550
    HOVERGENiHBG006527
    InParanoidiQ8N130
    KOiK14683
    OMAiWAWLPLW
    OrthoDBiEOG091G0DR5
    PhylomeDBiQ8N130
    TreeFamiTF313981

    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

    Sequencei

    Sequence statusi: Complete.

    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
    Checksum:i3747DE33D0A53E95
    GO

    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:
    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
    UniGeneiHs.432442

    Genome annotation databases

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

    Keywords - Coding sequence diversityi

    Polymorphism

    Similar proteinsi

    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
    UniGeneiHs.432442

    3D structure databases

    ProteinModelPortaliQ8N130
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi126771, 1 interactor
    IntActiQ8N130, 3 interactors
    STRINGi9606.ENSP00000355353

    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
    PaxDbiQ8N130
    PeptideAtlasiQ8N130
    PRIDEiQ8N130
    ProteomicsDBi71531

    Protocols and materials databases

    DNASUi142680
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi142680
    DisGeNETi142680
    EuPathDBiHostDB:ENSG00000198569.9
    GeneCardsiSLC34A3
    HGNCiHGNC:20305 SLC34A3
    HPAiHPA023776
    MalaCardsiSLC34A3
    MIMi241530 phenotype
    609826 gene
    neXtProtiNX_Q8N130
    OpenTargetsiENSG00000198569
    Orphaneti157215 Hereditary hypophosphatemic rickets with hypercalciuria
    PharmGKBiPA134930298
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiENOG410IE8P Eukaryota
    COG1283 LUCA
    GeneTreeiENSGT00390000005032
    HOGENOMiHOG000006550
    HOVERGENiHBG006527
    InParanoidiQ8N130
    KOiK14683
    OMAiWAWLPLW
    OrthoDBiEOG091G0DR5
    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

    ChiTaRSiSLC34A3 human
    GeneWikiiSLC34A3
    GenomeRNAii142680
    PROiPR:Q8N130
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000198569 Expressed in 68 organ(s), highest expression level in adult mammalian kidney
    CleanExiHS_SLC34A3
    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
    ProtoNetiSearch...

    Entry informationi

    Entry nameiNPT2C_HUMAN
    AccessioniPrimary (citable) accession number: Q8N130
    Secondary accession number(s): A2BFA1
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
    Last sequence update: November 30, 2010
    Last modified: September 12, 2018
    This is version 123 of the entry and version 2 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

    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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
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