NPT1_HUMAN
ID NPT1_HUMAN Reviewed; 467 AA.
AC Q14916; A8K418; O60761; Q13783; Q3MIP5; Q5MJP8; Q5TB83; Q96KL8;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=Sodium-dependent phosphate transport protein 1;
DE AltName: Full=Na(+)/PI cotransporter 1;
DE AltName: Full=Na/Pi-4;
DE AltName: Full=Renal Na(+)-dependent phosphate cotransporter 1;
DE AltName: Full=Renal sodium-dependent phosphate transport protein 1;
DE Short=Renal sodium-phosphate transport protein 1;
DE AltName: Full=Sodium/phosphate cotransporter 1;
DE AltName: Full=Solute carrier family 17 member 1;
GN Name=SLC17A1; Synonyms=NPT1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ILE-269.
RC TISSUE=Kidney;
RX PubMed=8288239; DOI=10.1006/geno.1993.1476;
RA Chong S.S., Kristjansson K., Zoghbi H.Y., Hughes M.R.;
RT "Molecular cloning of the cDNA encoding a human renal sodium phosphate
RT transport protein and its assignment to chromosome 6p21.3-p23.";
RL Genomics 18:355-359(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Zhou G., Nong W., Li H., Ke R., Zhong G., Shen C., Lin L., Yang S.;
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-113.
RX PubMed=11704559; DOI=10.1152/ajprenal.0092.2001;
RA Soumounou Y., Gauthier C., Tenenhouse H.S.;
RT "Murine and human type I Na-phosphate cotransporter genes: structure and
RT promoter activity.";
RL Am. J. Physiol. 281:F1082-F1091(2001).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11.
RX PubMed=9545579; DOI=10.1016/s0167-4781(97)00231-5;
RA Taketani Y., Miyamoto K., Chikamori M., Tanaka K., Yamamoto H., Tatsumi S.,
RA Morita K., Takeda E.;
RT "Characterization of the 5' flanking region of the human NPT-1
RT Na+/phosphate cotransporter gene.";
RL Biochim. Biophys. Acta 1396:267-272(1998).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 2-467 (ISOFORM 1), AND VARIANT ILE-269.
RC TISSUE=Kidney cortex;
RX PubMed=7826357; DOI=10.1042/bj3050081;
RA Miyamoto K., Tatsumi S., Sonoda T., Yamamoto H., Minami H., Taketani Y.,
RA Takeda E.;
RT "Cloning and functional expression of a Na(+)-dependent phosphate co-
RT transporter from human kidney: cDNA cloning and functional expression.";
RL Biochem. J. 305:81-85(1995).
RN [10]
RP VARIANT ILE-269, CHARACTERIZATION OF VARIANT ILE-269, SUBCELLULAR LOCATION,
RP AND FUNCTION.
RX PubMed=27906618; DOI=10.1080/15257770.2016.1149192;
RA Sakiyama M., Matsuo H., Nagamori S., Ling W., Kawamura Y., Nakayama A.,
RA Higashino T., Chiba T., Ichida K., Kanai Y., Shinomiya N.;
RT "Expression of a human NPT1/SLC17A1 missense variant which increases urate
RT export.";
RL Nucleosides Nucleotides Nucleic Acids 35:536-542(2016).
CC -!- FUNCTION: Important for the resorption of phosphate by the kidney. May
CC be involved in actively transporting phosphate into cells via Na(+)
CC cotransport in the renal brush border membrane. Plays a role in urate
CC transport in the kidney (PubMed:27906618).
CC {ECO:0000269|PubMed:27906618}.
CC -!- SUBUNIT: Interacts with PDZK1. {ECO:0000250|UniProtKB:Q61983}.
CC -!- SUBCELLULAR LOCATION: Apical cell membrane
CC {ECO:0000269|PubMed:27906618}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q14916-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q14916-2; Sequence=VSP_035012;
CC -!- TISSUE SPECIFICITY: Expressed in kidney cortex, liver and brain but not
CC in other tissues.
CC -!- SIMILARITY: Belongs to the major facilitator superfamily. Sodium/anion
CC cotransporter family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-3 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA05888.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; X71355; CAA50490.1; -; mRNA.
DR EMBL; AY780791; AAV98361.1; -; mRNA.
DR EMBL; AK290783; BAF83472.1; -; mRNA.
DR EMBL; AL138726; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471087; EAW55494.1; -; Genomic_DNA.
DR EMBL; BC101745; AAI01746.1; -; mRNA.
DR EMBL; BC101747; AAI01748.1; -; mRNA.
DR EMBL; AF362494; AAL04478.1; -; Genomic_DNA.
DR EMBL; AF362490; AAL04478.1; JOINED; Genomic_DNA.
DR EMBL; AF362492; AAL04478.1; JOINED; Genomic_DNA.
DR EMBL; D83236; BAA25645.1; -; Genomic_DNA.
DR EMBL; D28532; BAA05888.1; ALT_INIT; mRNA.
DR CCDS; CCDS4565.1; -. [Q14916-1]
DR PIR; A48916; A48916.
DR PIR; I39473; I39473.
DR RefSeq; NP_005065.2; NM_005074.3. [Q14916-1]
DR AlphaFoldDB; Q14916; -.
DR SMR; Q14916; -.
DR BioGRID; 112456; 2.
DR STRING; 9606.ENSP00000244527; -.
DR ChEMBL; CHEMBL3769298; -.
DR TCDB; 2.A.1.14.27; the major facilitator superfamily (mfs).
DR GlyGen; Q14916; 3 sites.
DR PhosphoSitePlus; Q14916; -.
DR BioMuta; SLC17A1; -.
DR DMDM; 205371809; -.
DR MassIVE; Q14916; -.
DR PaxDb; Q14916; -.
DR PeptideAtlas; Q14916; -.
DR PRIDE; Q14916; -.
DR ProteomicsDB; 60218; -. [Q14916-1]
DR ProteomicsDB; 60219; -. [Q14916-2]
DR Antibodypedia; 25435; 77 antibodies from 21 providers.
DR DNASU; 6568; -.
DR Ensembl; ENST00000244527.10; ENSP00000244527.4; ENSG00000124568.12. [Q14916-1]
DR Ensembl; ENST00000468082.1; ENSP00000420546.1; ENSG00000124568.12. [Q14916-2]
DR Ensembl; ENST00000476801.5; ENSP00000420614.1; ENSG00000124568.12. [Q14916-1]
DR GeneID; 6568; -.
DR KEGG; hsa:6568; -.
DR MANE-Select; ENST00000244527.10; ENSP00000244527.4; NM_005074.5; NP_005065.2.
DR UCSC; uc003nfh.5; human. [Q14916-1]
DR CTD; 6568; -.
DR DisGeNET; 6568; -.
DR GeneCards; SLC17A1; -.
DR HGNC; HGNC:10929; SLC17A1.
DR HPA; ENSG00000124568; Group enriched (kidney, liver).
DR MIM; 182308; gene.
DR neXtProt; NX_Q14916; -.
DR OpenTargets; ENSG00000124568; -.
DR PharmGKB; PA35820; -.
DR VEuPathDB; HostDB:ENSG00000124568; -.
DR eggNOG; KOG2532; Eukaryota.
DR GeneTree; ENSGT00940000162346; -.
DR HOGENOM; CLU_001265_5_0_1; -.
DR InParanoid; Q14916; -.
DR OMA; MRGTWAF; -.
DR PhylomeDB; Q14916; -.
DR TreeFam; TF313535; -.
DR PathwayCommons; Q14916; -.
DR Reactome; R-HSA-428643; Organic anion transporters.
DR SignaLink; Q14916; -.
DR BioGRID-ORCS; 6568; 7 hits in 1055 CRISPR screens.
DR ChiTaRS; SLC17A1; human.
DR GeneWiki; SLC17A1; -.
DR GenomeRNAi; 6568; -.
DR Pharos; Q14916; Tbio.
DR PRO; PR:Q14916; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q14916; protein.
DR Bgee; ENSG00000124568; Expressed in adult mammalian kidney and 43 other tissues.
DR ExpressionAtlas; Q14916; baseline and differential.
DR Genevisible; Q14916; HS.
DR GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005764; C:lysosome; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0015114; F:phosphate ion transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0015136; F:sialic acid transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0005436; F:sodium:phosphate symporter activity; TAS:Reactome.
DR GO; GO:0022857; F:transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006820; P:anion transport; IBA:GO_Central.
DR GO; GO:0006811; P:ion transport; TAS:Reactome.
DR GO; GO:0006817; P:phosphate ion transport; TAS:ProtInc.
DR GO; GO:0015739; P:sialic acid transport; IBA:GO_Central.
DR GO; GO:0046415; P:urate metabolic process; IMP:BHF-UCL.
DR GO; GO:0015747; P:urate transport; IMP:UniProtKB.
DR Gene3D; 1.20.1250.20; -; 2.
DR InterPro; IPR011701; MFS.
DR InterPro; IPR020846; MFS_dom.
DR InterPro; IPR036259; MFS_trans_sf.
DR InterPro; IPR004745; Pi_cotranspt.
DR Pfam; PF07690; MFS_1; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
DR TIGRFAMs; TIGR00894; 2A0114euk; 1.
DR PROSITE; PS50850; MFS; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Glycoprotein; Ion transport; Membrane;
KW Reference proteome; Sodium; Sodium transport; Symport; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..467
FT /note="Sodium-dependent phosphate transport protein 1"
FT /id="PRO_0000220936"
FT TRANSMEM 81..101
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 119..139
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 178..198
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 200..220
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 257..277
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 301..321
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 339..359
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 365..385
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 401..421
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 433..453
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 41
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 49
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 58
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 246..299
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_035012"
FT VARIANT 76
FT /note="S -> N (in dbSNP:rs6933573)"
FT /id="VAR_050060"
FT VARIANT 269
FT /note="T -> I (increased urate transport; dbSNP:rs1165196)"
FT /evidence="ECO:0000269|PubMed:27906618,
FT ECO:0000269|PubMed:7826357, ECO:0000269|PubMed:8288239"
FT /id="VAR_050061"
FT CONFLICT 37..38
FT /note="RA -> LM (in Ref. 9; BAA05888)"
FT /evidence="ECO:0000305"
FT CONFLICT 79
FT /note="I -> V (in Ref. 9; BAA05888)"
FT /evidence="ECO:0000305"
FT CONFLICT 100
FT /note="Y -> H (in Ref. 2; AAV98361)"
FT /evidence="ECO:0000305"
FT CONFLICT 117
FT /note="L -> P (in Ref. 3; BAF83472)"
FT /evidence="ECO:0000305"
FT CONFLICT 209
FT /note="G -> C (in Ref. 9; BAA05888)"
FT /evidence="ECO:0000305"
FT CONFLICT 215
FT /note="L -> F (in Ref. 2; AAV98361)"
FT /evidence="ECO:0000305"
FT CONFLICT 233
FT /note="S -> G (in Ref. 9; BAA05888)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 467 AA; 51132 MW; 10FE6C7E202BCFF7 CRC64;
MQMDNRLPPK KVPGFCSFRY GLSFLVHCCN VIITAQRACL NLTMVVMVNS TDPHGLPNTS
TKKLLDNIKN PMYNWSPDIQ GIILSSTSYG VIIIQVPVGY FSGIYSTKKM IGFALCLSSV
LSLLIPPAAG IGVAWVVVCR AVQGAAQGIV ATAQFEIYVK WAPPLERGRL TSMSTSGFLL
GPFIVLLVTG VICESLGWPM VFYIFGACGC AVCLLWFVLF YDDPKDHPCI SISEKEYITS
SLVQQVSSSR QSLPIKAILK SLPVWAISTG SFTFFWSHNI MTLYTPMFIN SMLHVNIKEN
GFLSSLPYLF AWICGNLAGQ LSDFFLTRNI LSVIAVRKLF TAAGFLLPAI FGVCLPYLSS
TFYSIVIFLI LAGATGSFCL GGVFINGLDI APRYFGFIKA CSTLTGMIGG LIASTLTGLI
LKQDPESAWF KTFILMAAIN VTGLIFYLIV ATAEIQDWAK EKQHTRL
