LOCUS       NM_022444               3798 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens solute carrier family 13 member 1 (SLC13A1),
            transcript variant 1, mRNA.
ACCESSION   NM_022444
VERSION     NM_022444.4
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 3798)
  AUTHORS   Chi,X., Chen,Y., Li,Y., Dai,L., Zhang,Y., Shen,Y., Chen,Y., Shi,T.,
            Yang,H., Wang,Z. and Yan,R.
  TITLE     Cryo-EM structures of the human NaS1 and NaDC1 transporters
            revealed the elevator transport and allosteric regulation mechanism
  JOURNAL   Sci Adv 10 (13), eadl3685 (2024)
   PUBMED   38552027
  REMARK    GeneRIF: Cryo-EM structures of the human NaS1 and NaDC1
            transporters revealed the elevator transport and allosteric
            regulation mechanism.
REFERENCE   2  (bases 1 to 3798)
  AUTHORS   Ao,X., Parisien,M., Zidan,M., Grant,A.V., Martinsen,A.E.,
            Winsvold,B.S. and Diatchenko,L.
  TITLE     Rare variant analyses in large-scale cohorts identified SLC13A1
            associated with chronic pain
  JOURNAL   Pain 164 (8), 1841-1851 (2023)
   PUBMED   36943258
  REMARK    GeneRIF: Rare variant analyses in large-scale cohorts identified
            SLC13A1 associated with chronic pain.
REFERENCE   3  (bases 1 to 3798)
  AUTHORS   Atcheson,R.J., Burne,T.H.J. and Dawson,P.A.
  TITLE     Serum sulfate level and Slc13a1 mRNA expression remain unaltered in
            a mouse model of moderate vitamin D deficiency
  JOURNAL   Mol Cell Biochem 478 (8), 1771-1777 (2023)
   PUBMED   36566486
  REMARK    GeneRIF: Serum sulfate level and Slc13a1 mRNA expression remain
            unaltered in a mouse model of moderate vitamin D deficiency.
REFERENCE   4  (bases 1 to 3798)
  AUTHORS   van de Kamp,J.M., Bokenkamp,A., Smith,D.E.C., Wamelink,M.M.C.,
            Jansen,E.E.W., Struys,E.A., Waisfisz,Q., Verkleij,M.,
            Hartmann,M.F., Wang,R., Wudy,S.A., Paganini,C., Rossi,A. and
            Finken,M.J.J.
  TITLE     Biallelic variants in the SLC13A1 sulfate transporter gene cause
            hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia
  JOURNAL   Clin Genet 103 (1), 45-52 (2023)
   PUBMED   36175384
  REMARK    GeneRIF: Biallelic variants in the SLC13A1 sulfate transporter gene
            cause hyposulfatemia with a mild spondylo-epi-metaphyseal
            dysplasia.
REFERENCE   5  (bases 1 to 3798)
  AUTHORS   Bjornsdottir,G., Stefansdottir,L., Thorleifsson,G., Sulem,P.,
            Norland,K., Ferkingstad,E., Oddsson,A., Zink,F., Lund,S.H.,
            Nawaz,M.S., Bragi Walters,G., Skuladottir,A.T., Gudjonsson,S.A.,
            Einarsson,G., Halldorsson,G.H., Bjarnadottir,V., Sveinbjornsson,G.,
            Helgadottir,A., Styrkarsdottir,U., Gudmundsson,L.J., Pedersen,O.B.,
            Hansen,T.F., Werge,T., Banasik,K., Troelsen,A., Skou,S.T.,
            Thorner,L.W., Erikstrup,C., Nielsen,K.R., Mikkelsen,S.,
            Jonsdottir,I., Bjornsson,A., Olafsson,I.H., Ulfarsson,E.,
            Blondal,J., Vikingsson,A., Brunak,S., Ostrowski,S.R., Ullum,H.,
            Thorsteinsdottir,U., Stefansson,H., Gudbjartsson,D.F.,
            Thorgeirsson,T.E. and Stefansson,K.
  CONSRTM   DBDS Genetic Consortium; GO Consortium
  TITLE     Rare SLC13A1 variants associate with intervertebral disc disorder
            highlighting role of sulfate in disc pathology
  JOURNAL   Nat Commun 13 (1), 634 (2022)
   PUBMED   35110524
  REMARK    GeneRIF: Rare SLC13A1 variants associate with intervertebral disc
            disorder highlighting role of sulfate in disc pathology.
            Erratum:[Nat Commun. 2022 Apr 27;13(1):2419. doi:
            10.1038/s41467-022-30129-6.. PMID: 35477715]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3798)
  AUTHORS   Maestrini,E., Pagnamenta,A.T., Lamb,J.A., Bacchelli,E., Sykes,N.H.,
            Sousa,I., Toma,C., Barnby,G., Butler,H., Winchester,L.,
            Scerri,T.S., Minopoli,F., Reichert,J., Cai,G., Buxbaum,J.D.,
            Korvatska,O., Schellenberg,G.D., Dawson,G., de Bildt,A.,
            Minderaa,R.B., Mulder,E.J., Morris,A.P., Bailey,A.J. and
            Monaco,A.P.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3798)
  AUTHORS   Pajor,A.M.
  TITLE     Molecular properties of the SLC13 family of dicarboxylate and
            sulfate transporters
  JOURNAL   Pflugers Arch 451 (5), 597-605 (2006)
   PUBMED   16211368
  REMARK    Review article
REFERENCE   8  (bases 1 to 3798)
  AUTHORS   Li,H. and Pajor,A.M.
  TITLE     Mutagenesis of the N-glycosylation site of hNaSi-1 reduces
            transport activity
  JOURNAL   Am J Physiol Cell Physiol 285 (5), C1188-C1196 (2003)
   PUBMED   12867358
  REMARK    GeneRIF: Amino acid residue Asn591, located in the carboxyl (COOH)
            terminus of NaSi-1, is used as the glycosylation site and is
            critical for transport activity in NaSi-1.
REFERENCE   9  (bases 1 to 3798)
  AUTHORS   Li,H. and Pajor,A.M.
  TITLE     Serines 260 and 288 are involved in sulfate transport by hNaSi-1
  JOURNAL   J Biol Chem 278 (39), 37204-37212 (2003)
   PUBMED   12857732
  REMARK    GeneRIF: Serines 260 and 288 are involved in sulfate transport by
            hNaSi-1.
REFERENCE   10 (bases 1 to 3798)
  AUTHORS   Lee,A., Beck,L. and Markovich,D.
  TITLE     The human renal sodium sulfate cotransporter (SLC13A1; hNaSi-1)
            cDNA and gene: organization, chromosomal localization, and
            functional characterization
  JOURNAL   Genomics 70 (3), 354-363 (2000)
   PUBMED   11161786
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073054.2 and AC091319.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_022444.3.
            
            Summary: The protein encoded by this gene is an apical membrane
            Na(+)-sulfate cotransporter involved in sulfate homeostasis in the
            kidney. Defects in this gene lead to many pathophysiologic
            problems. [provided by RefSeq, May 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: AK026413.1, AF260824.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000194130.7/ ENSP00000194130.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-122               AC073054.2         78113-78234         c
            123-251             AC073054.2         59238-59366         c
            252-388             AC073054.2         50033-50169         c
            389-576             AC073054.2         47413-47600         c
            577-634             AC073054.2         46769-46826         c
            635-683             AC073054.2         46639-46687         c
            684-835             AC073054.2         25424-25575         c
            836-955             AC073054.2         12675-12794         c
            956-1054            AC073054.2         7648-7746           c
            1055-1156           AC073054.2         7110-7211           c
            1157-1263           AC073054.2         3834-3940           c
            1264-1373           AC073054.2         1391-1500           c
            1374-1535           AC091319.5         9542-9703           c
            1536-1673           AC091319.5         7932-8069           c
            1674-3798           AC091319.5         3992-6116           c
FEATURES             Location/Qualifiers
     source          1..3798
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.32"
     gene            1..3798
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="solute carrier family 13 member 1"
                     /db_xref="GeneID:6561"
                     /db_xref="HGNC:HGNC:10916"
                     /db_xref="MIM:606193"
     exon            1..122
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1811
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     solute carrier family 13 (sodium/sulphate symporters),
                     member 1; renal sodium/sulfate cotransporter; solute
                     carrier family 13 (sodium/sulfate symporters), member 1;
                     Na(+)/sulfate cotransporter"
                     /codon_start=1
                     /product="solute carrier family 13 member 1 isoform 1"
                     /protein_id="NP_071889.2"
                     /db_xref="CCDS:CCDS5786.1"
                     /db_xref="GeneID:6561"
                     /db_xref="HGNC:HGNC:10916"
                     /db_xref="MIM:606193"
                     /translation="MKFFSYILVYRRFLFVVFTVLVLLPLPIVLHTKEAECAYTLFVV
                     ATFWLTEALPLSVTALLPSLMLPMFGIMPSKKVASAYFKDFHLLLIGVICLATSIEKW
                     NLHKRIALKMVMMVGVNPAWLTLGFMSSTAFLSMWLSNTSTAAMVMPIAEAVVQQIIN
                     AEAEVEATQMTYFNGSTNHGLEIDESVNGHEINERKEKTKPVPGYNNDTGKISSKVEL
                     EKNSGMRTKYRTKKGHVTRKLTCLCIAYSSTIGGLTTITGTSTNLIFAEYFNTRYPDC
                     RCLNFGSWFTFSFPAALIILLLSWIWLQWLFLGFNFKEMFKCGKTKTVQQKACAEVIK
                     QEYQKLGPIRYQEIVTLVLFIIMALLWFSRDPGFVPGWSALFSEYPGFATDSTVALLI
                     GLLFFLIPAKTLTKTTPTGEIVAFDYSPLITWKEFQSFMPWDIAILVGGGFALADGCE
                     ESGLSKWIGNKLSPLGSLPAWLIILISSLMVTSLTEVASNPATITLFLPILSPLAEAI
                     HVNPLYILIPSTLCTSFAFLLPVANPPNAIVFSYGHLKVIDMVKAGLGVNIVGVAVVM
                     LGICTWIVPMFDLYTYPSWAPAMSNETMP"
     exon            123..251
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            252..388
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            389..576
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            577..634
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            635..683
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            684..835
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            836..955
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1054
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1156
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1263
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1373
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1535
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1673
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..3798
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2789..2794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="hexamer: AATGAA"
     regulatory      2797..2802
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="hexamer: AATGAA"
     polyA_site      2807
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="major polyA site"
     polyA_site      2818
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="major polyA site"
     regulatory      2859..2864
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="hexamer: AATAAA"
     polyA_site      2893
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
     regulatory      3774..3779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
                     /note="hexamer: AATAAA"
     polyA_site      3798
                     /gene="SLC13A1"
                     /gene_synonym="NAS1; NaSi-1"
ORIGIN      
        1 attgaagcca cctgctcagg acaatgaaat tcttcagtta cattctggtt tatcgccgat
       61 ttctcttcgt ggttttcact gtgttggttt tactacctct gcccatcgtc ctccacacca
      121 aggaagcaga atgtgcctac acactctttg tggtcgccac attttggctc acagaagcat
      181 tgcctctgtc ggtaacagct ttgctaccta gtttaatgtt acccatgttt gggatcatgc
      241 cttctaagaa ggtggcatct gcttatttca aggattttca cttactgcta attggagtta
      301 tctgtttagc aacatccata gaaaaatgga atttgcacaa gagaattgct ctgaaaatgg
      361 tgatgatggt tggtgtaaat cctgcatggc tgacgctggg gttcatgagc agcactgcct
      421 ttttgtctat gtggctcagc aacacctcga cggctgccat ggtgatgccc attgcggagg
      481 ctgtagtgca gcagatcatc aatgcagaag cagaggtcga ggccactcag atgacttact
      541 tcaacggatc aaccaaccac ggactagaaa ttgatgaaag tgttaatgga catgaaataa
      601 atgagaggaa agagaaaaca aaaccagttc caggatacaa taatgataca gggaaaattt
      661 caagcaaggt ggagttggaa aagaactcag gcatgagaac caaatatcga acaaagaagg
      721 gccacgtgac acgtaaactt acgtgtttgt gcattgccta ctcttctacc attggtggac
      781 tgacaacaat cactggtacc tccaccaact tgatctttgc agagtatttc aatacacgct
      841 atcctgactg tcgttgcctc aactttggat catggtttac gttttccttc ccagctgccc
      901 ttatcattct actcttatcc tggatctggc ttcagtggct tttcctagga ttcaatttta
      961 aggagatgtt caaatgtggc aaaaccaaaa cagtccaaca aaaagcttgt gctgaggtga
     1021 ttaagcaaga ataccaaaag cttgggccaa taaggtatca agaaattgtg accttggtcc
     1081 tcttcattat aatggctctg ctatggttta gtcgagaccc cggatttgtt cctggttggt
     1141 ctgcactttt ttcagagtac cctggttttg ctacagattc aactgttgct ttacttatag
     1201 ggctgctatt ctttcttatc ccagctaaga cactgactaa aactacacct acaggagaaa
     1261 ttgttgcttt tgattactct ccactgatta cttggaaaga attccagtca ttcatgccct
     1321 gggatatagc cattcttgtt ggtggagggt ttgccctggc agatggttgt gaggagtctg
     1381 gattatctaa gtggatagga aataaattat ctcctctggg ttcattacca gcatggctaa
     1441 taattctgat atcttctttg atggtgacat ctttaactga ggtagccagc aatccagcta
     1501 ccattacact ctttctccca atattatctc cattggccga agccattcat gtgaaccctc
     1561 tttatattct gataccttct actctgtgta cttcatttgc attcctccta ccagtagcaa
     1621 atccacccaa tgctattgtc ttttcatatg gtcatctgaa agtcattgac atggttaaag
     1681 ctggacttgg tgtcaacatt gttggtgttg ctgtggttat gcttggcata tgtacttgga
     1741 ttgtacccat gtttgacctc tacacttacc cttcgtgggc tcctgctatg agtaatgaga
     1801 ccatgccata ataagcacaa aatttctgac tatcttgcgg taatttctgg aagacattaa
     1861 tgattgactg taaaatgtgg ctctaaataa ctaatgacac acatttaaat cagttatggt
     1921 gtagctgctg caattcctgt gaatacccga aacctgctgt tataactcag agtccatatt
     1981 tgttattgca gtgcaactaa agagcatcta tgtgccttca tcaagaagcc catgttttga
     2041 gattttgctc atgaaccatc tgcaacttgc ttcatcataa gaataattta taacttgacc
     2101 ttcaaagaga ttagagcatt tgtttcatct tacagttgga gttcaatgta acattttaaa
     2161 tgcaatttat tatttcagaa atttcccatg aaactaaaaa tagaaaataa gatatacaag
     2221 ttaattcggt acttggataa atcatttctg cattgttgtt ccagagaatt tgctgagaaa
     2281 tcaaagccat ggtcatctgg tgatgaagag aaaagtttaa tctaaatgat atgtgcattt
     2341 cctcatttaa aaaatccaat tggattattc ttaatatata catgtaatat gaaaattgag
     2401 attgaagcac taattccaaa attatggctg aatatactaa ataacagaaa agttacagat
     2461 aagaatttat ttctactgaa ctctatagtt agtgtaatat aattcatatt tttatgatat
     2521 tggcacactg agaaattcat tttgtagagc tatggataag gcttgctatg atttgcacta
     2581 ttagtacagt atagttagaa aggaaagctg aacactataa aactattaac atattttcgt
     2641 atatgagtaa caactttgct taagtgttta tcttagttca gaaatacata atgtcatatg
     2701 ttaaaaataa agagatgtag aaatctaaat gaattatcac tgtgtataca gacagaaaaa
     2761 tcacataact ctggtgtgtt aacattgcaa tgaaaaaatg aaaaaaagaa ggaaaaaaga
     2821 ataagaatga aaactgctga cgtattacaa aacagaaaaa taaatgattt aaaatcaaat
     2881 caaaaagaaa aaactaaaca tttaaacaaa aatgggataa gaatagtctt ctagaagtga
     2941 ggatgcgaaa aagaatgagt ttccaattac cctgatgtga caattacaca ttgtagacag
     3001 gtagcaaaat atcacataca cccccaaaat atgtacaaat attatatatc aataaataaa
     3061 tttttaaaga gtaagtgcta ttggcattcc aaaattcagc taaaggaaaa atgatcaaaa
     3121 acaaagtaag gtgcacagtt agcaaaagat gcagatgtta tatcacagca attctcatgc
     3181 taaaaataca acaaaagaca aagcaaaaaa taaacctttg cttttttttt tttttttttt
     3241 tttttgagac ggagtctcgc tctgtcgccc aggctggagt gcagtggcgg gatctcggct
     3301 cactgcaagc tccgcctccc aggttcacgc cattctcctg cctcagccaa acctttgcta
     3361 tttttaatct tcgttggcac tttccagctg ttactgacct tgtcattttt tattcaaata
     3421 agattattta caaacttatt cttgaaacta aatatagtaa agagggtttt taaaataata
     3481 tttaacatac gaattattaa ttggccatgt tcattattta tctatgttta ttaatgggcc
     3541 aatgcaaaaa atcatttttt caaagaaaaa tttgtccatg taaagcttaa attataatat
     3601 tgctgctttg tataactctt ctatgtttat tctattcatt tgttcctttc cctaccatat
     3661 tttacacatg tatttataat ctgtagtatt tattacattt ctgctttttt ctagtcattc
     3721 aatttatcac tgctgaattg catcagatca tggatgcatt tttattatga aaaaataaaa
     3781 tgacttttca aattataa
//
