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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-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.

Kineticsi

  1. KM=79 µM for phosphate1 Publication

    GO - Molecular functioni

    GO - Biological processi

    • cellular phosphate ion homeostasis Source: UniProtKB
    • phosphate ion transport Source: UniProtKB
    • sodium ion transport Source: UniProtKB
    Complete GO annotation...

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    BioCyciZFISH:G66-31912-MONOMER.
    ReactomeiR-HSA-427589. Type II Na+/Pi cotransporters.

    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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:20305. SLC34A3.

    Subcellular locationi

    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

    GO - Cellular componenti

    Complete GO annotation...

    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 rs141734934dbSNPEnsembl.1
    Natural variantiVAR_025709192S → L in HHRH. 2 PublicationsCorresponds to variant rs199690076dbSNPEnsembl.1
    Natural variantiVAR_025710196G → R in HHRH. 1 PublicationCorresponds to variant rs121918237dbSNPEnsembl.1
    Natural variantiVAR_025713353R → L in HHRH. 1 PublicationCorresponds to variant rs121918234dbSNPEnsembl.1
    Natural variantiVAR_025714413A → E in HHRH. 1 PublicationCorresponds to variant rs121918235dbSNPEnsembl.1
    Natural variantiVAR_025715468R → W in HHRH. 1 PublicationCorresponds to variant rs121918238dbSNPEnsembl.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...)Sequence analysis1
    Glycosylationi268N-linked (GlcNAc...)Sequence analysis1
    Disulfide bondi276 ↔ 309By similarity
    Glycosylationi286N-linked (GlcNAc...)Sequence analysis1
    Glycosylationi299N-linked (GlcNAc...)Sequence analysis1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    EPDiQ8N130.
    PaxDbiQ8N130.
    PeptideAtlasiQ8N130.
    PRIDEiQ8N130.

    PTM databases

    iPTMnetiQ8N130.
    PhosphoSitePlusiQ8N130.

    Expressioni

    Gene expression databases

    BgeeiENSG00000198569.
    CleanExiHS_SLC34A3.
    GenevisibleiQ8N130. HS.

    Organism-specific databases

    HPAiHPA023776.

    Interactioni

    Protein-protein interaction databases

    BioGridi126771. 1 interactor.
    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.
    OMAiNCGAFGP.
    OrthoDBiEOG091G0DR5.
    PhylomeDBiQ8N130.
    TreeFamiTF313981.

    Family and domain databases

    InterProiIPR003841. Na/Pi_transpt.
    IPR029850. Na/Pi_transpt_2C.
    [Graphical view]
    PANTHERiPTHR10010:SF35. PTHR10010:SF35. 2 hits.
    PfamiPF02690. Na_Pi_cotrans. 2 hits.
    [Graphical view]
    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 → H.1 PublicationCorresponds to variant rs34372115dbSNPEnsembl.1
    Natural variantiVAR_025707138S → F in HHRH. 1 PublicationCorresponds to variant rs141734934dbSNPEnsembl.1
    Natural variantiVAR_025708180G → A.1 PublicationCorresponds to variant rs35643193dbSNPEnsembl.1
    Natural variantiVAR_025709192S → L in HHRH. 2 PublicationsCorresponds to variant rs199690076dbSNPEnsembl.1
    Natural variantiVAR_025710196G → R in HHRH. 1 PublicationCorresponds to variant rs121918237dbSNPEnsembl.1
    Natural variantiVAR_025711237D → N.1 PublicationCorresponds to variant rs145877051dbSNPEnsembl.1
    Natural variantiVAR_025712337G → S.1 PublicationCorresponds to variant rs35699762dbSNPEnsembl.1
    Natural variantiVAR_025713353R → L in HHRH. 1 PublicationCorresponds to variant rs121918234dbSNPEnsembl.1
    Natural variantiVAR_025714413A → E in HHRH. 1 PublicationCorresponds to variant rs121918235dbSNPEnsembl.1
    Natural variantiVAR_025715468R → W in HHRH. 1 PublicationCorresponds to variant rs121918238dbSNPEnsembl.1
    Natural variantiVAR_025716513E → V.4 PublicationsCorresponds to variant rs28542318dbSNPEnsembl.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. Translation: CAM24147.1.
    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

    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. Translation: CAM24147.1.
    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.
    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.

    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.
    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.
    OMAiNCGAFGP.
    OrthoDBiEOG091G0DR5.
    PhylomeDBiQ8N130.
    TreeFamiTF313981.

    Enzyme and pathway databases

    BioCyciZFISH:G66-31912-MONOMER.
    ReactomeiR-HSA-427589. Type II Na+/Pi cotransporters.

    Miscellaneous databases

    ChiTaRSiSLC34A3. human.
    GeneWikiiSLC34A3.
    GenomeRNAii142680.
    PROiQ8N130.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000198569.
    CleanExiHS_SLC34A3.
    GenevisibleiQ8N130. HS.

    Family and domain databases

    InterProiIPR003841. Na/Pi_transpt.
    IPR029850. Na/Pi_transpt_2C.
    [Graphical view]
    PANTHERiPTHR10010:SF35. PTHR10010:SF35. 2 hits.
    PfamiPF02690. Na_Pi_cotrans. 2 hits.
    [Graphical view]
    TIGRFAMsiTIGR01013. 2a58. 1 hit.
    ProtoNetiSearch...

    Entry informationi

    Entry nameiNPT2C_HUMAN
    AccessioniPrimary (citable) accession number: Q8N130
    Secondary accession number(s): A2BFA1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 20, 2005
    Last sequence update: November 30, 2010
    Last modified: November 30, 2016
    This is version 111 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

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