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O00476

- NPT4_HUMAN

UniProt

O00476 - NPT4_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO00476.
CleanExiHS_SLC17A3.
ExpressionAtlasiO00476. baseline and differential.
GenevestigatoriO00476.

Organism-specific databases

HPAiHPA016569.

Interactioni

Protein-protein interaction databases

BioGridi116002. 1 interaction.
STRINGi9606.ENSP00000380250.

Structurei

3D structure databases

ProteinModelPortaliO00476.
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.
GeneTreeiENSGT00760000119079.
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

        10         20         30         40         50
MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF
60 70 80 90 100
TTIAQNVIMN ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPA
110 120 130 140 150
KSSILGGQFA IWEKWGPPQE RSRLCSIALS GMLLGCFTAI LIGGFISETL
160 170 180 190 200
GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS YPWISTSEKE YIISSLKQQV
210 220 230 240 250
GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP TYISSVYHVN
260 270 280 290 300
IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP
310 320 330 340 350
SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF
360 370 380 390 400
LMGASRGFSS IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY
410 420
LIFGEADVQE WAKERKLTRL
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.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116002. 1 interaction.
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.
GeneTreei ENSGT00760000119079.
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

Bgeei O00476.
CleanExi HS_SLC17A3.
ExpressionAtlasi O00476. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 116 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