LOCUS       NM_001098486            2052 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens solute carrier family 17 member 3 (SLC17A3),
            transcript variant 1, mRNA.
ACCESSION   NM_001098486
VERSION     NM_001098486.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2052)
  AUTHORS   Salih,A., Boscolo Galazzo,I., Raisi-Estabragh,Z., Rauseo,E.,
            Gkontra,P., Petersen,S.E., Lekadir,K., Altmann,A., Radeva,P. and
            Menegaz,G.
  TITLE     Brain age estimation at tract group level and its association with
            daily life measures, cardiac risk factors and genetic variants
  JOURNAL   Sci Rep 11 (1), 20563 (2021)
   PUBMED   34663856
  REMARK    GeneRIF: Brain age estimation at tract group level and its
            association with daily life measures, cardiac risk factors and
            genetic variants.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2052)
  AUTHORS   Ching,S.C., Wen,L.J., Ismail,N.I.M., Looi,I., Kooi,C.W., Peng,L.S.,
            Mui,L.S., Tamibmaniam,J., Muninathan,P., Hooi,O.B., Ali,S.M.M.,
            Hassan,M.R.A., Mohamad,M.S., Griffiths,L.R. and Wei,L.K.
  TITLE     SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at the
            Northern Region of Malaysia
  JOURNAL   J Stroke Cerebrovasc Dis 30 (10), 105908 (2021)
   PUBMED   34384670
  REMARK    GeneRIF: SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at
            the Northern Region of Malaysia.
REFERENCE   3  (bases 1 to 2052)
  AUTHORS   Huang,S., Yin,L., Xu,Y., Zou,C. and Chen,L.
  TITLE     The homocysteine associated variant rs548987 of SLC17A3 confers
            susceptibility to ischemic stroke in Chinese population
  JOURNAL   J Neurol Sci 370, 78-81 (2016)
   PUBMED   27772792
  REMARK    GeneRIF: Study used rs548987 of SLC17A3 as a candidate variant of
            ischemic stroke and performed association analysis in a Chinese
            population; although rs548987 failed to show significant
            association with total ischemic stroke and large vessel disease
            subtype, the C allele of rs548987 showed significant association
            with small vessel disease subtype of ischemic stroke (OR=0.68,
            p=0.004).
REFERENCE   4  (bases 1 to 2052)
  AUTHORS   Simino,J., Shi,G., Bis,J.C., Chasman,D.I., Ehret,G.B., Gu,X.,
            Guo,X., Hwang,S.J., Sijbrands,E., Smith,A.V., Verwoert,G.C.,
            Bragg-Gresham,J.L., Cadby,G., Chen,P., Cheng,C.Y., Corre,T., de
            Boer,R.A., Goel,A., Johnson,T., Khor,C.C., Lluis-Ganella,C.,
            Luan,J., Lyytikainen,L.P., Nolte,I.M., Sim,X., Sober,S., van der
            Most,P.J., Verweij,N., Zhao,J.H., Amin,N., Boerwinkle,E.,
            Bouchard,C., Dehghan,A., Eiriksdottir,G., Elosua,R., Franco,O.H.,
            Gieger,C., Harris,T.B., Hercberg,S., Hofman,A., James,A.L.,
            Johnson,A.D., Kahonen,M., Khaw,K.T., Kutalik,Z., Larson,M.G.,
            Launer,L.J., Li,G., Liu,J., Liu,K., Morrison,A.C., Navis,G.,
            Ong,R.T., Papanicolau,G.J., Penninx,B.W., Psaty,B.M., Raffel,L.J.,
            Raitakari,O.T., Rice,K., Rivadeneira,F., Rose,L.M., Sanna,S.,
            Scott,R.A., Siscovick,D.S., Stolk,R.P., Uitterlinden,A.G.,
            Vaidya,D., van der Klauw,M.M., Vasan,R.S., Vithana,E.N., Volker,U.,
            Volzke,H., Watkins,H., Young,T.L., Aung,T., Bochud,M., Farrall,M.,
            Hartman,C.A., Laan,M., Lakatta,E.G., Lehtimaki,T., Loos,R.J.,
            Lucas,G., Meneton,P., Palmer,L.J., Rettig,R., Snieder,H., Tai,E.S.,
            Teo,Y.Y., van der Harst,P., Wareham,N.J., Wijmenga,C., Wong,T.Y.,
            Fornage,M., Gudnason,V., Levy,D., Palmas,W., Ridker,P.M.,
            Rotter,J.I., van Duijn,C.M., Witteman,J.C., Chakravarti,A. and
            Rao,D.C.
  CONSRTM   LifeLines Cohort Study
  TITLE     Gene-age interactions in blood pressure regulation: a large-scale
            investigation with the CHARGE, Global BPgen, and ICBP Consortia
  JOURNAL   Am J Hum Genet 95 (1), 24-38 (2014)
   PUBMED   24954895
REFERENCE   5  (bases 1 to 2052)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   6  (bases 1 to 2052)
  AUTHORS   Shi,J., Levinson,D.F., Duan,J., Sanders,A.R., Zheng,Y., Pe'er,I.,
            Dudbridge,F., Holmans,P.A., Whittemore,A.S., Mowry,B.J., Olincy,A.,
            Amin,F., Cloninger,C.R., Silverman,J.M., Buccola,N.G.,
            Byerley,W.F., Black,D.W., Crowe,R.R., Oksenberg,J.R., Mirel,D.B.,
            Kendler,K.S., Freedman,R. and Gejman,P.V.
  TITLE     Common variants on chromosome 6p22.1 are associated with
            schizophrenia
  JOURNAL   Nature 460 (7256), 753-757 (2009)
   PUBMED   19571809
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2052)
  AUTHORS   Dehghan,A., Kottgen,A., Yang,Q., Hwang,S.J., Kao,W.L.,
            Rivadeneira,F., Boerwinkle,E., Levy,D., Hofman,A., Astor,B.C.,
            Benjamin,E.J., van Duijn,C.M., Witteman,J.C., Coresh,J. and
            Fox,C.S.
  TITLE     Association of three genetic loci with uric acid concentration and
            risk of gout: a genome-wide association study
  JOURNAL   Lancet 372 (9654), 1953-1961 (2008)
   PUBMED   18834626
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2052)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 2052)
  AUTHORS   Melis,D., Havelaar,A.C., Verbeek,E., Smit,G.P., Benedetti,A.,
            Mancini,G.M. and Verheijen,F.
  TITLE     NPT4, a new microsomal phosphate transporter: mutation analysis in
            glycogen storage disease type Ic
  JOURNAL   J Inherit Metab Dis 27 (6), 725-733 (2004)
   PUBMED   15505377
  REMARK    GeneRIF: mutation reduces the phosphate transport efficiency,
            possibly modulating the G6-Pase complex
REFERENCE   10 (bases 1 to 2052)
  AUTHORS   Ruddy,D.A., Kronmal,G.S., Lee,V.K., Mintier,G.A., Quintana,L.,
            Domingo,R. Jr., Meyer,N.C., Irrinki,A., McClelland,E.E., Fullan,A.,
            Mapa,F.A., Moore,T., Thomas,W., Loeb,D.B., Harmon,C.,
            Tsuchihashi,Z., Wolff,R.K., Schatzman,R.C. and Feder,J.N.
  TITLE     A 1.1-Mb transcript map of the hereditary hemochromatosis locus
  JOURNAL   Genome Res 7 (5), 441-456 (1997)
   PUBMED   9149941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC361549.1, DC340735.1,
            Z83953.1, CB163247.1, AL138726.12 and BX107915.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001098486.1.
            
            Summary: The protein encoded by this gene is a voltage-driven
            transporter that excretes intracellular urate and organic anions
            from the blood into renal tubule cells. Two transcript variants
            encoding different isoforms have been found for this gene. The
            longer isoform is a plasma membrane protein with transporter
            activity while the shorter isoform localizes to the endoplasmic
            reticulum. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK298271.1, SRR5189664.90076.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159080 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397060.8/ ENSP00000380250.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-541               DC361549.1         1-541
            542-668             DC340735.1         500-626
            669-981             Z83953.1           258-570
            982-1446            CB163247.1         120-584
            1447-1454           AL138726.12        78104-78111
            1455-1702           BX107915.1         67-314
            1703-1703           AL138726.12        82298-82298
            1704-1746           BX107915.1         315-357
            1747-1748           AL138726.12        82342-82343
            1749-1805           BX107915.1         360-416
            1806-1808           AL138726.12        82401-82403
            1809-2052           AL138726.12        82404-82647
FEATURES             Location/Qualifiers
     source          1..2052
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     gene            1..2052
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /note="solute carrier family 17 member 3"
                     /db_xref="GeneID:10786"
                     /db_xref="HGNC:HGNC:10931"
                     /db_xref="MIM:611034"
     exon            1..77
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            78..201
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1607
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /note="isoform a is encoded by transcript variant 1;
                     sodium-dependent phosphate transport protein 4;
                     sodium/phosphate cotransporter 4; Na(+)/PI cotransporter
                     4; solute carrier family 17 (sodium phosphate), member 3;
                     solute carrier family 17 (organic anion transporter),
                     member 3"
                     /codon_start=1
                     /product="sodium-dependent phosphate transport protein 4
                     isoform a"
                     /protein_id="NP_001091956.1"
                     /db_xref="CCDS:CCDS47385.1"
                     /db_xref="GeneID:10786"
                     /db_xref="HGNC:HGNC:10931"
                     /db_xref="MIM:611034"
                     /translation="MATKTELSPTARESKNAQDMQVDETLIPRKVPSLCSARYGIALV
                     LHFCNFTTIAQNVIMNITMVAMVNSTSPQSQLNDSSEVLPVDSFGGLSKAPKSLPAKA
                     PVYDWSPQIQGIIFGAVGYGGILTMAPSGYLAGRVGTKRVVGISLFATSFLTLCIPLA
                     TDFGIVLLIVTRIVQGLSQSSILGGQFAIWEKWGPPQERSRLCSIALSGMLLGCFTAI
                     LIGGFISETLGWPFVFYIFGGVGCVCCLLWFVVIYDDPVSYPWISTSEKEYIISSLKQ
                     QVGSSKQPLPIKAMLRSLPIWSICLGCFSHQWLVSTMVVYIPTYISSVYHVNIRDNGL
                     LSALPFIVAWVIGMVGGYLADFLLTKKFRLITVRKIATILGSLPSSALIVSLPYLNSG
                     YITATALLTLSCGLSTLCQSGIYINVLDIAPRYSSFLMGASRGFSSIAPVIVPTVSGF
                     LLSQDPEFGWRNVFFLLFAVNLLGLLFYLIFGEADVQEWAKERKLTRL"
     exon            202..413
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            414..647
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            648..735
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            736..822
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            823..941
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1103
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1233
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1381
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..1472
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1609
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1610..2052
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1789..1794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /note="hexamer: AATAAA"
     polyA_site      1808
                     /gene="SLC17A3"
                     /gene_synonym="GOUT4; NPT4; UAQTL4"
                     /note="major polyA site"
ORIGIN      
        1 gctccaaaaa gtccaaggga gtaagcttgg aggaaacgct gggttcaact tgaagccctt
       61 ccacagacat taagtcggtg aaaaccattc actaggagag gagaaacaca atggccacca
      121 agacagagtt gagtcccaca gcaagggaga gcaagaacgc acaagatatg caagtggatg
      181 agacactgat ccccaggaaa gttccaagtt tatgttctgc tcgctatgga atagccctcg
      241 tcttacattt ctgcaatttc acaacgatag cacaaaatgt catcatgaac atcaccatgg
      301 tagccatggt caacagcaca agccctcaat cccagctcaa tgattcctct gaggtgctgc
      361 ctgttgactc atttggtggc ctaagtaaag ccccaaagag tcttcctgca aaggctcctg
      421 tgtatgactg gtctcctcaa atccaaggca tcatctttgg tgctgttggc tatggtggca
      481 tactgacaat ggctcccagt ggatacctgg ctggaagagt aggaacaaag cgagtggttg
      541 gcatttcttt gtttgcaact tcatttctca ctctatgcat ccctctggcc actgactttg
      601 gaatagtctt gctcattgta actcgaatag tccagggcct aagccagtcc tcaatacttg
      661 ggggtcagtt tgcaatttgg gaaaagtggg gccctccaca agaacgaagc agactctgca
      721 gcattgcttt atcaggaatg ttactgggat gctttactgc catcctcata ggtggcttca
      781 ttagtgaaac ccttgggtgg ccctttgtct tctatatctt tggaggtgtt ggctgtgtct
      841 gctgccttct ctggtttgtt gtgatttatg atgaccccgt ttcctatcca tggataagca
      901 cctcagaaaa agaatacatc atatcctcct tgaaacaaca ggtcgggtct tctaagcagc
      961 ctcttcccat caaagctatg ctcagatctc tacccatttg gtccatatgt ttaggctgtt
     1021 tcagccatca atggttagtt agcacaatgg ttgtatacat accaacttac atcagctctg
     1081 tgtaccatgt taacatcaga gacaatggac ttctatctgc ccttcctttt attgttgcct
     1141 gggtcatagg catggtggga ggctatctgg cagatttcct tctaaccaaa aagtttagac
     1201 tcatcactgt gaggaaaatt gccacaattt taggaagtct cccctcttca gcactcattg
     1261 tgtctctgcc ttacctcaat tccggctata tcacagcaac tgccttgctg acgctctctt
     1321 gcggattaag cacattgtgt cagtcaggga tttatatcaa tgtcttagat attgctccaa
     1381 ggtattccag ttttctcatg ggagcatcaa gaggattttc gagcatagca cctgtcattg
     1441 tacccactgt cagtggattt cttcttagtc aggaccctga gtttgggtgg aggaatgtct
     1501 tcttcttgct gtttgccgtt aacctgttag gactactctt ctacctcata tttggagaag
     1561 cagatgtcca agaatgggct aaagagagaa aactcactcg tttatgaagt tatcccacct
     1621 tggatggaaa agtcattagg caccgtattg cataaaatag aaggcttccg tgatgaaaat
     1681 accagtgaaa agattttttt tttcctgtgg ctcttttcaa ttatgagatc agttcattat
     1741 tttattcaga cttttttttg agagaaatgt aagatgaata aaaattcaaa taaaatgata
     1801 actaagaatg cagttgtcat cttcatagaa ttaacaatgg attaagaggg cttgctgtgt
     1861 gggacccagt atgttagatt ccattactgg atacaagaaa caatgtttta aaacctttaa
     1921 tccggggtga caaactcact agggcaatga tttttcctgt ttgtgaaaat taatattact
     1981 ttctatttat tgggttgagt attgtccatg tgttcttccc tatatgtcct ccatttatct
     2041 ccatcctgct ca
//
