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Q8N130

- NPT2C_HUMAN

UniProt

Q8N130 - NPT2C_HUMAN

Protein

Sodium-dependent phosphate transport protein 2C

Gene

SLC34A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (30 Nov 2010)
      Previous versions | rss
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    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

    1. sodium:phosphate symporter activity Source: UniProtKB
    2. sodium-dependent phosphate transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. cellular phosphate ion homeostasis Source: UniProtKB
    2. ion transport Source: Reactome
    3. phosphate ion transmembrane transport Source: GOC
    4. phosphate ion transport Source: UniProtKB
    5. sodium ion transmembrane transport Source: GOC
    6. sodium ion transport Source: UniProtKB
    7. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_19411. 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
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:20305. SLC34A3.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: HGNC
    2. brush border Source: Ensembl
    3. integral component of membrane Source: UniProtKB-KW
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]: Autosomal 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti138 – 1381S → F in HHRH. 1 Publication
    VAR_025707
    Natural varianti192 – 1921S → L in HHRH. 2 Publications
    VAR_025709
    Natural varianti196 – 1961G → R in HHRH. 1 Publication
    VAR_025710
    Natural varianti353 – 3531R → L in HHRH. 1 Publication
    VAR_025713
    Natural varianti413 – 4131A → E in HHRH. 1 Publication
    VAR_025714
    Natural varianti468 – 4681R → W in HHRH. 1 Publication
    VAR_025715

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi241530. phenotype.
    Orphaneti157215. Hereditary hypophosphatemic rickets with hypercalciuria.
    PharmGKBiPA134930298.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 599599Sodium-dependent phosphate transport protein 2CPRO_0000068617Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi265 – 2651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi268 – 2681N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi276 ↔ 309By similarity
    Glycosylationi286 – 2861N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi299 – 2991N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8N130.
    PRIDEiQ8N130.

    PTM databases

    PhosphoSiteiQ8N130.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N130.
    BgeeiQ8N130.
    CleanExiHS_SLC34A3.
    GenevestigatoriQ8N130.

    Organism-specific databases

    HPAiHPA023776.

    Interactioni

    Protein-protein interaction databases

    BioGridi126771. 2 interactions.
    STRINGi9606.ENSP00000355353.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N130.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 7676CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini98 – 11114ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini133 – 18856CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini210 – 322113ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini344 – 36724CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini389 – 44557ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini467 – 48519CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini507 – 5104ExtracellularSequence Analysis
    Topological domaini532 – 59968CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei77 – 9721Helical; Name=M1Sequence AnalysisAdd
    BLAST
    Transmembranei112 – 13221Helical; Name=M2Sequence AnalysisAdd
    BLAST
    Transmembranei189 – 20921Helical; Name=M3Sequence AnalysisAdd
    BLAST
    Transmembranei323 – 34321Helical; Name=M4Sequence AnalysisAdd
    BLAST
    Transmembranei368 – 38821Helical; Name=M5Sequence AnalysisAdd
    BLAST
    Transmembranei446 – 46621Helical; Name=M6Sequence AnalysisAdd
    BLAST
    Transmembranei486 – 50621Helical; Name=M7Sequence AnalysisAdd
    BLAST
    Transmembranei511 – 53121Helical; Name=M8Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi424 – 4274Poly-Thr

    Sequence similaritiesi

    Belongs to the SLC34A transporter family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1283.
    HOGENOMiHOG000006550.
    HOVERGENiHBG006527.
    InParanoidiQ8N130.
    KOiK14683.
    OMAiLIKRWCG.
    OrthoDBiEOG72ZCDP.
    PhylomeDBiQ8N130.
    TreeFamiTF313981.

    Family and domain databases

    InterProiIPR003841. Na/Pi_transpt.
    [Graphical view]
    PfamiPF02690. Na_Pi_cotrans. 2 hits.
    [Graphical view]
    TIGRFAMsiTIGR01013. 2a58. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q8N130-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPSSLPGSQV PHPTLDAVDL VEKTLRNEGT SSSAPVLEEG DTDPWTLPQL    50
    KDTSQPWKEL RVAGRLRRVA GSVLKACGLL GSLYFFICSL DVLSSAFQLL 100
    GSKVAGDIFK DNVVLSNPVA GLVIGVLVTA LVQSSSTSSS IVVSMVAAKL 150
    LTVRVSVPII MGVNVGTSIT STLVSMAQSG DRDEFQRAFS GSAVHGIFNW 200
    LTVLVLLPLE SATALLERLS ELALGAASLT PRAQAPDILK VLTKPLTHLI 250
    VQLDSDMIMS SATGNATNSS LIKHWCGTTG QPTQENSSCG AFGPCTEKNS 300
    TAPADRLPCR HLFAGTELTD LAVGCILLAG SLLVLCGCLV LIVKLLNSVL 350
    RGRVAQVVRT VINADFPFPL GWLGGYLAVL AGAGLTFALQ SSSVFTAAVV 400
    PLMGVGVISL DRAYPLLLGS NIGTTTTALL AALASPADRM LSALQVALIH 450
    FFFNLAGILL WYLVPALRLP IPLARHFGVV TARYRWVAGV YLLLGFLLLP 500
    LAAFGLSLAG GMELAAVGGP LVGLVLLVIL VTVLQRRRPA WLPVRLRSWA 550
    WLPVWLHSLE PWDRLVTRCC PCNVCSPPKA TTKEAYCYEN PEILASQQL 599
    Length:599
    Mass (Da):63,550
    Last modified:November 30, 2010 - v2
    Checksum:i3747DE33D0A53E95
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 671R → H.1 Publication
    Corresponds to variant rs34372115 [ dbSNP | Ensembl ].
    VAR_025706
    Natural varianti138 – 1381S → F in HHRH. 1 Publication
    VAR_025707
    Natural varianti180 – 1801G → A.1 Publication
    Corresponds to variant rs35643193 [ dbSNP | Ensembl ].
    VAR_025708
    Natural varianti192 – 1921S → L in HHRH. 2 Publications
    VAR_025709
    Natural varianti196 – 1961G → R in HHRH. 1 Publication
    VAR_025710
    Natural varianti237 – 2371D → N.1 Publication
    Corresponds to variant rs145877051 [ dbSNP | Ensembl ].
    VAR_025711
    Natural varianti337 – 3371G → S.1 Publication
    Corresponds to variant rs35699762 [ dbSNP | Ensembl ].
    VAR_025712
    Natural varianti353 – 3531R → L in HHRH. 1 Publication
    VAR_025713
    Natural varianti413 – 4131A → E in HHRH. 1 Publication
    VAR_025714
    Natural varianti468 – 4681R → W in HHRH. 1 Publication
    VAR_025715
    Natural varianti513 – 5131E → V.4 Publications
    Corresponds to variant rs28542318 [ dbSNP | Ensembl ].
    VAR_025716

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGeneiHs.432442.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi313104149.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB055000 mRNA. Translation: BAB83242.1 .
    AK095999 mRNA. Translation: BAC04667.1 .
    BX255925 Genomic DNA. Translation: CAM24147.1 .
    CCDSi CCDS7038.1.
    RefSeqi NP_001170787.1. NM_001177316.1.
    NP_001170788.1. NM_001177317.1.
    NP_543153.1. NM_080877.2.
    UniGenei Hs.432442.

    3D structure databases

    ProteinModelPortali Q8N130.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126771. 2 interactions.
    STRINGi 9606.ENSP00000355353.

    Protein family/group databases

    TCDBi 2.A.58.1.3. the phosphate:na(+) symporter (pnas) family.

    PTM databases

    PhosphoSitei Q8N130.

    Polymorphism databases

    DMDMi 313104149.

    Proteomic databases

    PaxDbi Q8N130.
    PRIDEi Q8N130.

    Protocols and materials databases

    DNASUi 142680.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361134 ; ENSP00000355353 ; ENSG00000198569 .
    ENST00000538474 ; ENSP00000442397 ; ENSG00000198569 .
    GeneIDi 142680.
    KEGGi hsa:142680.
    UCSCi uc004cmf.1. human.

    Organism-specific databases

    CTDi 142680.
    GeneCardsi GC09P140125.
    HGNCi HGNC:20305. SLC34A3.
    HPAi HPA023776.
    MIMi 241530. phenotype.
    609826. gene.
    neXtProti NX_Q8N130.
    Orphaneti 157215. Hereditary hypophosphatemic rickets with hypercalciuria.
    PharmGKBi PA134930298.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1283.
    HOGENOMi HOG000006550.
    HOVERGENi HBG006527.
    InParanoidi Q8N130.
    KOi K14683.
    OMAi LIKRWCG.
    OrthoDBi EOG72ZCDP.
    PhylomeDBi Q8N130.
    TreeFami TF313981.

    Enzyme and pathway databases

    Reactomei REACT_19411. Type II Na+/Pi cotransporters.

    Miscellaneous databases

    GeneWikii SLC34A3.
    GenomeRNAii 142680.
    NextBioi 84599.
    PROi Q8N130.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N130.
    Bgeei Q8N130.
    CleanExi HS_SLC34A3.
    Genevestigatori Q8N130.

    Family and domain databases

    InterProi IPR003841. Na/Pi_transpt.
    [Graphical view ]
    Pfami PF02690. Na_Pi_cotrans. 2 hits.
    [Graphical view ]
    TIGRFAMsi TIGR01013. 2a58. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, BIOPHYSICOCHEMICAL PROPERTIES, VARIANT VAL-513.
      Tissue: Kidney.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-513.
      Tissue: Kidney.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis."
      Bergwitz C., Roslin N.M., Tieder M., Loredo-Osti J.C., Bastepe M., Abu-Zahra H., Frappier D., Burkett K., Carpenter T.O., Anderson D., Garabedian M., Sermet I., Fujiwara T.M., Morgan K., Tenenhouse H.S., Jueppner H.
      Am. J. Hum. Genet. 78:179-192(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHRH PHE-138; LEU-192; ARG-196 AND TRP-468, VARIANT VAL-513.
    5. "Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3."
      Lorenz-Depiereux B., Benet-Pages A., Eckstein G., Tenenbaum-Rakover Y., Wagenstaller J., Tiosano D., Gershoni-Baruch R., Albers N., Lichtner P., Schnabel D., Hochberg Z., Strom T.M.
      Am. J. Hum. Genet. 78:193-201(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHRH LEU-192; LEU-353 AND GLU-413, VARIANTS HIS-67; ALA-180; ASN-237; SER-337 AND VAL-513.

    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: October 1, 2014
    This is version 90 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

    External Data

    Dasty 3