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O00476

- NPT4_HUMAN

UniProt

O00476 - NPT4_HUMAN

Protein

Sodium-dependent phosphate transport protein 4

Gene

SLC17A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (23 Sep 2008)
      Previous versions | rss
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    Functioni

    Isoform 2: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na+ cotransport.

    GO - Molecular functioni

    1. drug transmembrane transporter activity Source: UniProtKB
    2. efflux transmembrane transporter activity Source: UniProtKB
    3. organic anion transmembrane transporter activity Source: UniProtKB
    4. sodium:phosphate symporter activity Source: UniProtKB
    5. toxin transporter activity Source: UniProtKB
    6. urate transmembrane transporter activity Source: UniProtKB
    7. voltage-gated anion channel activity Source: UniProtKB

    GO - Biological processi

    1. drug transmembrane transport Source: GOC
    2. drug transport Source: UniProtKB
    3. glucose-6-phosphate transport Source: UniProtKB
    4. ion transmembrane transport Source: Reactome
    5. organic acid transport Source: GOC
    6. organic anion transport Source: UniProtKB
    7. phosphate ion transmembrane transport Source: GOC
    8. phosphate ion transport Source: UniProtKB
    9. regulation of anion transport Source: GOC
    10. sodium ion transmembrane transport Source: GOC
    11. sodium ion transport Source: UniProtKB
    12. toxin transport Source: GOC
    13. transmembrane transport Source: Reactome
    14. urate metabolic process Source: UniProtKB
    15. urate transport Source: UniProtKB

    Keywords - Biological processi

    Ion transport, Sodium transport, Symport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Protein family/group databases

    TCDBi2.A.1.14.28. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium-dependent phosphate transport protein 4
    Alternative name(s):
    Na(+)/PI cotransporter 4
    Sodium/phosphate cotransporter 4
    Solute carrier family 17 member 3
    Gene namesi
    Name:SLC17A3
    Synonyms:NPT4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:10931. SLC17A3.

    Subcellular locationi

    Isoform 2 : Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. brush border membrane Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. endoplasmic reticulum membrane Source: UniProtKB
    5. integral component of plasma membrane Source: UniProtKB
    6. perinuclear region of cytoplasm Source: UniProtKB
    7. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    MIMi612671. phenotype.
    PharmGKBiPA35822.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 420420Sodium-dependent phosphate transport protein 4PRO_0000351138Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi49 – 491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi60 – 601N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi68 – 681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi77 – 771N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO00476.
    PRIDEiO00476.

    Expressioni

    Tissue specificityi

    Expressed in the liver and kidney. It is detected in proximal tubules in renal cortex as well as some tubules and glomeruli, with highest expression at the apical side of proximal tubules (at protein level).2 Publications

    Gene expression databases

    ArrayExpressiO00476.
    BgeeiO00476.
    CleanExiHS_SLC17A3.
    GenevestigatoriO00476.

    Organism-specific databases

    HPAiHPA016569.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000380250.

    Structurei

    3D structure databases

    ProteinModelPortaliO00476.
    SMRiO00476. Positions 135-165.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei126 – 14621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei154 – 17421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei218 – 23821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei256 – 27621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei292 – 31423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei319 – 34123HelicalSequence AnalysisAdd
    BLAST
    Transmembranei357 – 37721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei385 – 40521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0477.
    HOGENOMiHOG000230813.
    HOVERGENiHBG008834.
    InParanoidiO00476.
    KOiK12300.
    OMAiLNSGYIT.
    PhylomeDBiO00476.
    TreeFamiTF313535.

    Family and domain databases

    InterProiIPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR017373. Na-dep_P-transpt_4_prd.
    [Graphical view]
    PfamiPF07690. MFS_1. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038072. Na(+)/PI_cotransporter4_prd. 1 hit.
    SUPFAMiSSF103473. SSF103473. 1 hit.
    PROSITEiPS50850. MFS. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O00476-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' 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

    MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF    50
    TTIAQNVIMN ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPA 100
    KSSILGGQFA IWEKWGPPQE RSRLCSIALS GMLLGCFTAI LIGGFISETL 150
    GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS YPWISTSEKE YIISSLKQQV 200
    GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP TYISSVYHVN 250
    IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP 300
    SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF 350
    LMGASRGFSS IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY 400
    LIFGEADVQE WAKERKLTRL 420
    Length:420
    Mass (Da):46,106
    Last modified:September 23, 2008 - v2
    Checksum:iBFDFCC7F4345F573
    GO
    Isoform 2 (identifier: O00476-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         101-101: K → KAPVYDWSPQ...VTRIVQGLSQ

    Note: No experimental confirmation available.

    Show »
    Length:498
    Mass (Da):54,259
    Checksum:i28523A1A29FD2562
    GO

    Sequence cautioni

    The sequence AAB53423.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti31 – 311V → G in AAB53423. (PubMed:9149941)Curated
    Sequence conflicti179 – 1791V → F in AAB53423. (PubMed:9149941)Curated

    Polymorphismi

    Genetic variations in SLC17A3 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 4 (UAQTL4) [MIMi:612671]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681N → H Found in a patient with gout; does not affect isoform 2 localization at the cell membrane; results in reduced urate efflux. 1 Publication
    VAR_068680
    Natural varianti100 – 1001A → T.1 Publication
    Corresponds to variant rs1165165 [ dbSNP | Ensembl ].
    VAR_024533
    Natural varianti201 – 2011G → R.1 Publication
    Corresponds to variant rs56027330 [ dbSNP | Ensembl ].
    VAR_034700
    Natural varianti226 – 2261F → S Found in a patient with hyperuricemia; decreased expression of isoform 2 at the cell membrane; results in highly reduced urate efflux. 1 Publication
    VAR_068681
    Natural varianti300 – 3001P → L.
    Corresponds to variant rs11966370 [ dbSNP | Ensembl ].
    VAR_046633

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei101 – 1011K → KAPVYDWSPQIQGIIFGAVG YGGILTMAPSGYLAGRVGTK RVVGISLFATSFLTLCIPLA TDFGIVLLIVTRIVQGLSQ in isoform 2. 1 PublicationVSP_042888

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U90545 mRNA. Translation: AAB53423.1. Different initiation.
    AK298271 mRNA. Translation: BAH12747.1.
    AL138726 Genomic DNA. Translation: CAC16543.1.
    CH471087 Genomic DNA. Translation: EAW55495.1.
    BC017952 mRNA. Translation: AAH17952.1.
    CCDSiCCDS4566.2. [O00476-1]
    CCDS47385.1. [O00476-2]
    RefSeqiNP_001091956.1. NM_001098486.1. [O00476-2]
    NP_006623.2. NM_006632.3. [O00476-1]
    UniGeneiHs.327179.

    Genome annotation databases

    EnsembliENST00000360657; ENSP00000353873; ENSG00000124564. [O00476-1]
    ENST00000361703; ENSP00000355307; ENSG00000124564. [O00476-1]
    ENST00000397060; ENSP00000380250; ENSG00000124564. [O00476-2]
    GeneIDi10786.
    KEGGihsa:10786.
    UCSCiuc003nfi.4. human. [O00476-1]
    uc003nfk.4. human. [O00476-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U90545 mRNA. Translation: AAB53423.1 . Different initiation.
    AK298271 mRNA. Translation: BAH12747.1 .
    AL138726 Genomic DNA. Translation: CAC16543.1 .
    CH471087 Genomic DNA. Translation: EAW55495.1 .
    BC017952 mRNA. Translation: AAH17952.1 .
    CCDSi CCDS4566.2. [O00476-1 ]
    CCDS47385.1. [O00476-2 ]
    RefSeqi NP_001091956.1. NM_001098486.1. [O00476-2 ]
    NP_006623.2. NM_006632.3. [O00476-1 ]
    UniGenei Hs.327179.

    3D structure databases

    ProteinModelPortali O00476.
    SMRi O00476. Positions 135-165.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000380250.

    Protein family/group databases

    TCDBi 2.A.1.14.28. the major facilitator superfamily (mfs).

    Proteomic databases

    PaxDbi O00476.
    PRIDEi O00476.

    Protocols and materials databases

    DNASUi 10786.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360657 ; ENSP00000353873 ; ENSG00000124564 . [O00476-1 ]
    ENST00000361703 ; ENSP00000355307 ; ENSG00000124564 . [O00476-1 ]
    ENST00000397060 ; ENSP00000380250 ; ENSG00000124564 . [O00476-2 ]
    GeneIDi 10786.
    KEGGi hsa:10786.
    UCSCi uc003nfi.4. human. [O00476-1 ]
    uc003nfk.4. human. [O00476-2 ]

    Organism-specific databases

    CTDi 10786.
    GeneCardsi GC06M025833.
    H-InvDB HIX0005635.
    HGNCi HGNC:10931. SLC17A3.
    HPAi HPA016569.
    MIMi 611034. gene.
    612671. phenotype.
    neXtProti NX_O00476.
    PharmGKBi PA35822.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOGENOMi HOG000230813.
    HOVERGENi HBG008834.
    InParanoidi O00476.
    KOi K12300.
    OMAi LNSGYIT.
    PhylomeDBi O00476.
    TreeFami TF313535.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GenomeRNAii 10786.
    NextBioi 40966.
    PROi O00476.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00476.
    Bgeei O00476.
    CleanExi HS_SLC17A3.
    Genevestigatori O00476.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR017373. Na-dep_P-transpt_4_prd.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038072. Na(+)/PI_cotransporter4_prd. 1 hit.
    SUPFAMi SSF103473. SSF103473. 1 hit.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    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] (ISOFORM 2).
      Tissue: Kidney.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-100.
      Tissue: Kidney.
    6. "NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic."
      Melis D., Havelaar A.C., Verbeek E., Smit G.P.A., Benedetti A., Mancini G.M.S., Verheijen F.
      J. Inherit. Metab. Dis. 27:725-733(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, VARIANT ARG-201.
    7. Cited for: FUNCTION AS ORGANIC ANION TRANSPORTER (ISOFORM 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION (ISOFORM 2), INVOLVEMENT IN UAQTL4, VARIANTS HIS-68 AND SER-226, CHARACTERIZATION OF VARIANTS HIS-68 AND SER-226.

    Entry informationi

    Entry nameiNPT4_HUMAN
    AccessioniPrimary (citable) accession number: O00476
    Secondary accession number(s): B7WNJ5
    , B7Z511, Q8WWC7, Q9H533
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 115 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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