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Sodium-dependent phosphate transport protein 1 (Na( )/PI cotransporter 1) (Na/Pi-4) (Renal Na( )-dependent phosphate cotransporter 1) (Renal sodium-dependent phosphate transport protein 1) (Renal sodium-phosphate transport protein 1) (Sodium/phosphate cotransporter 1) (Solute carrier family 17 member 1)

 NPT1_HUMAN              Reviewed;         467 AA.
Q14916; A8K418; O60761; Q13783; Q3MIP5; Q5MJP8; Q5TB83; Q96KL8;
01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
02-SEP-2008, sequence version 2.
20-DEC-2017, entry version 145.
RecName: Full=Sodium-dependent phosphate transport protein 1;
AltName: Full=Na(+)/PI cotransporter 1;
AltName: Full=Na/Pi-4;
AltName: Full=Renal Na(+)-dependent phosphate cotransporter 1;
AltName: Full=Renal sodium-dependent phosphate transport protein 1;
Short=Renal sodium-phosphate transport protein 1;
AltName: Full=Sodium/phosphate cotransporter 1;
AltName: Full=Solute carrier family 17 member 1;
Name=SLC17A1; Synonyms=NPT1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ILE-269.
TISSUE=Kidney;
PubMed=8288239; DOI=10.1006/geno.1993.1476;
Chong S.S., Kristjansson K., Zoghbi H.Y., Hughes M.R.;
"Molecular cloning of the cDNA encoding a human renal sodium phosphate
transport protein and its assignment to chromosome 6p21.3-p23.";
Genomics 18:355-359(1993).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Zhou G., Nong W., Li H., Ke R., Zhong G., Shen C., Lin L., Yang S.;
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Kidney;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=14574404; DOI=10.1038/nature02055;
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.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Liver;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-113.
PubMed=11704559;
Soumounou Y., Gauthier C., Tenenhouse H.S.;
"Murine and human type I Na-phosphate cotransporter genes: structure
and promoter activity.";
Am. J. Physiol. 281:F1082-F1091(2001).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11.
PubMed=9545579; DOI=10.1016/S0167-4781(97)00231-5;
Taketani Y., Miyamoto K., Chikamori M., Tanaka K., Yamamoto H.,
Tatsumi S., Morita K., Takeda E.;
"Characterization of the 5' flanking region of the human NPT-1
Na+/phosphate cotransporter gene.";
Biochim. Biophys. Acta 1396:267-272(1998).
[9]
NUCLEOTIDE SEQUENCE [MRNA] OF 2-467 (ISOFORM 1), AND VARIANT ILE-269.
TISSUE=Kidney cortex;
PubMed=7826357; DOI=10.1042/bj3050081;
Miyamoto K., Tatsumi S., Sonoda T., Yamamoto H., Minami H.,
Taketani Y., Takeda E.;
"Cloning and functional expression of a Na(+)-dependent phosphate co-
transporter from human kidney: cDNA cloning and functional
expression.";
Biochem. J. 305:81-85(1995).
[10]
VARIANT ILE-269, CHARACTERIZATION OF VARIANT ILE-269, SUBCELLULAR
LOCATION, AND FUNCTION.
PubMed=27906618; DOI=10.1080/15257770.2016.1149192;
Sakiyama M., Matsuo H., Nagamori S., Ling W., Kawamura Y.,
Nakayama A., Higashino T., Chiba T., Ichida K., Kanai Y.,
Shinomiya N.;
"Expression of a human NPT1/SLC17A1 missense variant which increases
urate export.";
Nucleosides Nucleotides Nucleic Acids 35:536-542(2016).
-!- FUNCTION: Important for the resorption of phosphate by the kidney.
May be involved in actively transporting phosphate into cells via
Na(+) cotransport in the renal brush border membrane. Plays a role
in urate transport in the kidney (PubMed:27906618).
{ECO:0000269|PubMed:27906618}.
-!- SUBUNIT: Interacts with PDZK1. {ECO:0000250|UniProtKB:Q61983}.
-!- SUBCELLULAR LOCATION: Apical cell membrane
{ECO:0000269|PubMed:27906618}; Multi-pass membrane protein
{ECO:0000255}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q14916-1; Sequence=Displayed;
Name=2;
IsoId=Q14916-2; Sequence=VSP_035012;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed in kidney cortex, liver and brain
but not in other tissues.
-!- SIMILARITY: Belongs to the major facilitator superfamily.
Sodium/anion cotransporter family. {ECO:0000305}.
-!- CAUTION: It is uncertain whether Met-1 or Met-3 is the initiator.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=BAA05888.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=CAI19543.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; X71355; CAA50490.1; -; mRNA.
EMBL; AY780791; AAV98361.1; -; mRNA.
EMBL; AK290783; BAF83472.1; -; mRNA.
EMBL; AL138726; CAI19543.1; ALT_INIT; Genomic_DNA.
EMBL; CH471087; EAW55494.1; -; Genomic_DNA.
EMBL; BC101745; AAI01746.1; -; mRNA.
EMBL; BC101747; AAI01748.1; -; mRNA.
EMBL; AF362494; AAL04478.1; -; Genomic_DNA.
EMBL; AF362490; AAL04478.1; JOINED; Genomic_DNA.
EMBL; AF362492; AAL04478.1; JOINED; Genomic_DNA.
EMBL; D83236; BAA25645.1; -; Genomic_DNA.
EMBL; D28532; BAA05888.1; ALT_INIT; mRNA.
CCDS; CCDS4565.1; -. [Q14916-1]
PIR; A48916; A48916.
PIR; I39473; I39473.
RefSeq; NP_005065.2; NM_005074.3. [Q14916-1]
UniGene; Hs.205816; -.
ProteinModelPortal; Q14916; -.
BioGrid; 112456; 2.
STRING; 9606.ENSP00000244527; -.
ChEMBL; CHEMBL3769298; -.
TCDB; 2.A.1.14.27; the major facilitator superfamily (mfs).
PhosphoSitePlus; Q14916; -.
BioMuta; SLC17A1; -.
DMDM; 205371809; -.
PaxDb; Q14916; -.
PeptideAtlas; Q14916; -.
PRIDE; Q14916; -.
Ensembl; ENST00000244527; ENSP00000244527; ENSG00000124568. [Q14916-1]
Ensembl; ENST00000468082; ENSP00000420546; ENSG00000124568. [Q14916-2]
Ensembl; ENST00000476801; ENSP00000420614; ENSG00000124568. [Q14916-1]
GeneID; 6568; -.
KEGG; hsa:6568; -.
UCSC; uc003nfh.5; human. [Q14916-1]
CTD; 6568; -.
DisGeNET; 6568; -.
EuPathDB; HostDB:ENSG00000124568.10; -.
GeneCards; SLC17A1; -.
HGNC; HGNC:10929; SLC17A1.
HPA; HPA050513; -.
MIM; 182308; gene.
neXtProt; NX_Q14916; -.
OpenTargets; ENSG00000124568; -.
PharmGKB; PA35820; -.
eggNOG; KOG2532; Eukaryota.
eggNOG; ENOG410XPWC; LUCA.
GeneTree; ENSGT00760000119079; -.
HOVERGEN; HBG008834; -.
InParanoid; Q14916; -.
KO; K12300; -.
OMA; IKNPVYN; -.
OrthoDB; EOG091G08YP; -.
PhylomeDB; Q14916; -.
TreeFam; TF313535; -.
Reactome; R-HSA-428643; Organic anion transporters.
GeneWiki; SLC17A1; -.
GenomeRNAi; 6568; -.
PRO; PR:Q14916; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000124568; -.
CleanEx; HS_SLC17A1; -.
ExpressionAtlas; Q14916; baseline and differential.
Genevisible; Q14916; HS.
GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0016020; C:membrane; TAS:ProtInc.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0015321; F:sodium-dependent phosphate transmembrane transporter activity; TAS:Reactome.
GO; GO:0005436; F:sodium:phosphate symporter activity; IBA:GO_Central.
GO; GO:0006811; P:ion transport; TAS:Reactome.
GO; GO:0006817; P:phosphate ion transport; TAS:ProtInc.
GO; GO:0035725; P:sodium ion transmembrane transport; IBA:GO_Central.
GO; GO:0046415; P:urate metabolic process; IMP:BHF-UCL.
GO; GO:0015747; P:urate transport; IMP:UniProtKB.
CDD; cd06174; MFS; 1.
InterPro; IPR011701; MFS.
InterPro; IPR020846; MFS_dom.
InterPro; IPR036259; MFS_trans_sf.
InterPro; IPR004745; Pi_cotranspt.
Pfam; PF07690; MFS_1; 1.
SUPFAM; SSF103473; SSF103473; 1.
TIGRFAMs; TIGR00894; 2A0114euk; 1.
PROSITE; PS50850; MFS; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Complete proteome; Glycoprotein;
Ion transport; Membrane; Polymorphism; Reference proteome; Sodium;
Sodium transport; Symport; Transmembrane; Transmembrane helix;
Transport.
CHAIN 1 467 Sodium-dependent phosphate transport
protein 1.
/FTId=PRO_0000220936.
TRANSMEM 81 101 Helical. {ECO:0000255}.
TRANSMEM 119 139 Helical. {ECO:0000255}.
TRANSMEM 178 198 Helical. {ECO:0000255}.
TRANSMEM 200 220 Helical. {ECO:0000255}.
TRANSMEM 257 277 Helical. {ECO:0000255}.
TRANSMEM 301 321 Helical. {ECO:0000255}.
TRANSMEM 339 359 Helical. {ECO:0000255}.
TRANSMEM 365 385 Helical. {ECO:0000255}.
TRANSMEM 401 421 Helical. {ECO:0000255}.
TRANSMEM 433 453 Helical. {ECO:0000255}.
CARBOHYD 41 41 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 49 49 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 58 58 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 246 299 Missing (in isoform 2).
{ECO:0000303|Ref.2}.
/FTId=VSP_035012.
VARIANT 76 76 S -> N (in dbSNP:rs6933573).
/FTId=VAR_050060.
VARIANT 269 269 T -> I (increased urate transport;
dbSNP:rs1165196).
{ECO:0000269|PubMed:27906618,
ECO:0000269|PubMed:7826357,
ECO:0000269|PubMed:8288239}.
/FTId=VAR_050061.
CONFLICT 37 38 RA -> LM (in Ref. 9; BAA05888).
{ECO:0000305}.
CONFLICT 79 79 I -> V (in Ref. 9; BAA05888).
{ECO:0000305}.
CONFLICT 100 100 Y -> H (in Ref. 2; AAV98361).
{ECO:0000305}.
CONFLICT 117 117 L -> P (in Ref. 3; BAF83472).
{ECO:0000305}.
CONFLICT 209 209 G -> C (in Ref. 9; BAA05888).
{ECO:0000305}.
CONFLICT 215 215 L -> F (in Ref. 2; AAV98361).
{ECO:0000305}.
CONFLICT 233 233 S -> G (in Ref. 9; BAA05888).
{ECO:0000305}.
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


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