LOCUS       NM_022042               3413 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 26 member 1 (SLC26A1),
            transcript variant 1, mRNA.
ACCESSION   NM_022042
VERSION     NM_022042.4
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 3413)
  AUTHORS   Pfau,A., Lopez-Cayuqueo,K.I., Scherer,N., Wuttke,M., Wernstedt,A.,
            Gonzalez Fassrainer,D., Smith,D.E., van de Kamp,J.M., Ziegeler,K.,
            Eckardt,K.U., Luft,F.C., Aronson,P.S., Kottgen,A., Jentsch,T.J. and
            Knauf,F.
  TITLE     SLC26A1 is a major determinant of sulfate homeostasis in humans
  JOURNAL   J Clin Invest 133 (3), e161849 (2023)
   PUBMED   36719378
  REMARK    GeneRIF: SLC26A1 is a major determinant of sulfate homeostasis in
            humans.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3413)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3413)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3413)
  AUTHORS   Tise,C.G., Perry,J.A., Anforth,L.E., Pavlovich,M.A., Backman,J.D.,
            Ryan,K.A., Lewis,J.P., O'Connell,J.R., Yerges-Armstrong,L.M. and
            Shuldiner,A.R.
  TITLE     From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are
            Associated with Decreased Serum Sulfate and Increased Serum
            Aminotransferases
  JOURNAL   G3 (Bethesda) 6 (9), 2909-2918 (2016)
   PUBMED   27412988
  REMARK    GeneRIF: SLC26A1 L348P was associated with lower whole-body bone
            mineral density (BMD) and higher serum calcium, consistent with the
            osteochondrodysplasia exhibited by dogs and sheep with naturally
            occurring, homozygous, loss-of-function mutations in Slc13a1
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3413)
  AUTHORS   Gee,H.Y., Jun,I., Braun,D.A., Lawson,J.A., Halbritter,J., Shril,S.,
            Nelson,C.P., Tan,W., Stein,D., Wassner,A.J., Ferguson,M.A.,
            Gucev,Z., Sayer,J.A., Milosevic,D., Baum,M., Tasic,V., Lee,M.G. and
            Hildebrandt,F.
  TITLE     Mutations in SLC26A1 Cause Nephrolithiasis
  JOURNAL   Am J Hum Genet 98 (6), 1228-1234 (2016)
   PUBMED   27210743
  REMARK    GeneRIF: Mutations in SLC26A1 gene is associated with
            Nephrolithiasis.
REFERENCE   6  (bases 1 to 3413)
  AUTHORS   Katzir,Z., Dinour,D., Reznik-Wolf,H., Nissenkorn,A. and Holtzman,E.
  TITLE     Familial pure proximal renal tubular acidosis--a clinical and
            genetic study
  JOURNAL   Nephrol Dial Transplant 23 (4), 1211-1215 (2008)
   PUBMED   17881426
  REMARK    GeneRIF: No mutation was found in the coding regions and
            intron-exon boundaries of the genes for CA II, CA IV, CA XIV,
            kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic
            DNA of family members with pRTA.
REFERENCE   7  (bases 1 to 3413)
  AUTHORS   Gornati,R., Chini,V., Rimoldi,S., Meregalli,M., Schiaffino,E. and
            Bernardini,G.
  TITLE     Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by
            real-time PCR
  JOURNAL   Mol Cell Biochem 298 (1-2), 59-68 (2007)
   PUBMED   17119850
  REMARK    GeneRIF: The expression of three messengers coding for SAT-1, SAT-2
            and GalNAcT-1 in human samples of intestinal cancer and some cell
            lines (breast cancer and melanomas), was evaluated.
REFERENCE   8  (bases 1 to 3413)
  AUTHORS   Regeer,R.R., Lee,A. and Markovich,D.
  TITLE     Characterization of the human sulfate anion transporter (hsat-1)
            protein and gene (SAT1; SLC26A1)
  JOURNAL   DNA Cell Biol 22 (2), 107-117 (2003)
   PUBMED   12713736
  REMARK    GeneRIF: Characterization of the SAT1 gene and protein function.
REFERENCE   9  (bases 1 to 3413)
  AUTHORS   Markovich,D.
  TITLE     Physiological roles and regulation of mammalian sulfate
            transporters
  JOURNAL   Physiol Rev 81 (4), 1499-1533 (2001)
   PUBMED   11581495
  REMARK    Review article
REFERENCE   10 (bases 1 to 3413)
  AUTHORS   Lohi,H., Kujala,M., Kerkela,E., Saarialho-Kere,U., Kestila,M. and
            Kere,J.
  TITLE     Mapping of five new putative anion transporter genes in human and
            characterization of SLC26A6, a candidate gene for pancreatic anion
            exchanger
  JOURNAL   Genomics 70 (1), 102-112 (2000)
   PUBMED   11087667
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292747.1 and AY124771.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_022042.3.
            
            Summary: This gene is a member of a family of sulfate/anion
            transporter genes. Family members are well conserved in their
            genomic (number and size of exons) and protein (aa length among
            species) structures, but have markedly different tissue expression
            patterns. This gene is primarily expressed in the liver, pancreas,
            and brain. Three splice variants that encode different isoforms
            have been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) lacks an exon in the 5' UTR,
            as compared to variant 3. Both variants 1 and 3 encode the same
            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 :: AF297659.2, AK292747.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398516.3/ ENSP00000381528.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1797              AK292747.1         37-1833
            1798-3413           AY124771.1         2045-3660
FEATURES             Location/Qualifiers
     source          1..3413
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..3413
                     /gene="SLC26A1"
                     /gene_synonym="CAON; CAON1; EDM4; HYSULF; SAT-1; SAT1"
                     /note="solute carrier family 26 member 1"
                     /db_xref="GeneID:10861"
                     /db_xref="HGNC:HGNC:10993"
                     /db_xref="MIM:610130"
     exon            1..104
                     /gene="SLC26A1"
                     /gene_synonym="CAON; CAON1; EDM4; HYSULF; SAT-1; SAT1"
                     /inference="alignment:Splign:2.1.0"
     exon            105..707
                     /gene="SLC26A1"
                     /gene_synonym="CAON; CAON1; EDM4; HYSULF; SAT-1; SAT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..2237
                     /gene="SLC26A1"
                     /gene_synonym="CAON; CAON1; EDM4; HYSULF; SAT-1; SAT1"
                     /note="isoform a is encoded by transcript variant 1;
                     sulfate/anion transporter SAT-1 protein; sulfate anion
                     tranporter AT1; solute carrier family 26 (anion
                     exchanger), member 1; solute carrier family 26 (sulfate
                     transporter), member 1"
                     /codon_start=1
                     /product="sulfate anion transporter 1 isoform a"
                     /protein_id="NP_071325.2"
                     /db_xref="CCDS:CCDS33934.1"
                     /db_xref="GeneID:10861"
                     /db_xref="HGNC:HGNC:10993"
                     /db_xref="MIM:610130"
                     /translation="MDESPEPLQQGRGPVPVRRQRPAPRGLREMLKARLWCSCSCSVL
                     CVRALVQDLLPATRWLRQYRPREYLAGDVMSGLVIGIILVPQAIAYSLLAGLQPIYSL
                     YTSFFANLIYFLMGTSRHVSVGIFSLLCLMVGQVVDRELQLAGFDPSQDGLQPGANSS
                     TLNGSAAMLDCGRDCYAIRVATALTLMTGLYQVLMGVLRLGFVSAYLSQPLLDGFAMG
                     ASVTILTSQLKHLLGVRIPRHQGPGMVVLTWLSLLRGAGQANVCDVVTSTVCLAVLLA
                     AKELSDRYRHRLRVPLPTELLVIVVATLVSHFGQLHKRFGSSVAGDIPTGFMPPQVPE
                     PRLMQRVALDAVALALVAAAFSISLAEMFARSHGYSVRANQELLAVGCCNVLPAFLHC
                     FATSAALAKSLVKTATGCRTQLSSVVSATVVLLVLLALAPLFHDLQRSVLACVIVVSL
                     RGALRKVWDLPRLWRMSPADALVWAGTAATCMLVSTEAGLLAGVILSLLSLAGRTQRP
                     RTALLARIGDTAFYEDATEFEGLVPEPGVRVFRFGGPLYYANKDFFLQSLYSLTGLDA
                     GCMAARRKEGGSETGVGEGGPAQGEDLGPVSTRAALVPAAAGFHTVVIDCAPLLFLDA
                     AGVSTLQDLRRDYGALGISLLLACCSPPVRDILSRGGFLGEGPGDTAEEEQLFLSVHD
                     AVQTARARHRELEATDAHL"
     exon            708..3413
                     /gene="SLC26A1"
                     /gene_synonym="CAON; CAON1; EDM4; HYSULF; SAT-1; SAT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3388..3393
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC26A1"
                     /gene_synonym="CAON; CAON1; EDM4; HYSULF; SAT-1; SAT1"
                     /note="hexamer: AATAAA"
     polyA_site      3413
                     /gene="SLC26A1"
                     /gene_synonym="CAON; CAON1; EDM4; HYSULF; SAT-1; SAT1"
                     /note="major polyA site"
ORIGIN      
        1 actctccccg ctgctcgcgg gagccagagg gccctgcggt cctcggtggt cttgccagcc
       61 cctcgtcatc ccagggccct ccgcgcctgt gaggactccc tcaggtcggc cacgggacct
      121 gacgcaacag gatggacgag tcccctgagc ctctgcagca gggcagaggg ccggtgccgg
      181 tccgacggca gcgcccagca ccccggggtc tgcgtgagat gctgaaggcc aggctgtggt
      241 gcagctgctc gtgcagtgtg ctgtgcgtcc gggcgctggt gcaggacctg ctccccgcca
      301 cgcgctggct gcgtcagtac cgcccgcggg agtacctggc aggcgacgtc atgtctgggc
      361 tggtcatcgg catcatcctg gtgccgcagg ccatcgccta ctcattgctg gccgggctgc
      421 agcccatcta cagcctctat acgtccttct tcgccaacct catctacttc ctcatgggca
      481 cctcacggca tgtctccgtg ggcatcttca gcctgctttg cctcatggtg gggcaggtgg
      541 tggaccggga gctccagctg gccggctttg acccctccca ggacggcctg cagcccggag
      601 ccaacagcag caccctcaac ggctcggctg ccatgctgga ctgcgggcgt gactgctacg
      661 ccatccgtgt cgccaccgcc ctcacgctga tgaccgggct ttaccaggtc ctcatgggcg
      721 tcctccggct gggcttcgtg tccgcctacc tctcacagcc actgctcgat ggctttgcca
      781 tgggggcctc cgtgaccatc ctgacctcgc agctcaaaca cctgctgggc gtgcggatcc
      841 cgcggcacca ggggcccggc atggtggtcc tcacatggct gagcctgctg cgcggcgccg
      901 ggcaggccaa cgtgtgcgac gtggtcacca gcacggtgtg cctggcggtg ctgctagccg
      961 cgaaggagct ctcagaccgc taccgacacc gcctgagggt gccgctgccc acggagctgc
     1021 tggtcatcgt ggtggccaca ctcgtgtcgc acttcgggca gctccacaag cgctttggct
     1081 cgagcgtggc tggcgacatc cccacgggtt tcatgccccc tcaggtccca gagcccaggc
     1141 tgatgcagcg tgtggctttg gatgccgtgg ccctggccct cgtggctgcc gccttctcca
     1201 tctcgctggc ggagatgttc gcccgcagtc acggctactc tgtgcgtgcc aaccaggagc
     1261 tgctggctgt gggctgctgc aacgtgctac ccgccttcct ccactgcttc gccaccagcg
     1321 ccgccctggc caagagcctg gtgaagacag ccactggctg ccggacacag ctgtccagcg
     1381 tggtcagcgc caccgtggtg ctgctggtgc tgctggcgct ggcaccgctg ttccacgacc
     1441 tacagcgaag cgtgctggcc tgcgtcatcg tggtcagcct gcggggggcc ctgcgcaagg
     1501 tgtgggacct cccgcggctg tggcggatga gcccggctga cgcgctggtc tgggcaggca
     1561 ccgcggccac ctgtatgctg gtcagcacag aggccgggct gctggctggc gtcatcctct
     1621 cgctgctcag cctggccggc cgcacccaac gcccacgcac cgccctgctg gcccgcatcg
     1681 gggacacggc cttctacgag gatgccacag agttcgaggg cctcgtccct gagcccggcg
     1741 tgcgggtgtt ccgctttggg gggccgctgt actatgccaa caaggacttc ttcctgcagt
     1801 cactctacag cctcacgggg ctggacgcag ggtgcatggc tgccaggagg aaggaggggg
     1861 gctcagagac gggggtcggt gagggaggcc ctgcccaggg cgaggacctg ggcccggtta
     1921 gcaccagggc tgcgctggtg cccgcagcgg ccggcttcca cacagtggtc atcgactgcg
     1981 ccccgctgct gttcctagac gcagccggtg tgagcacgct gcaggacctg cgccgagact
     2041 acggggccct gggcatcagc ctgctgctag cctgctgcag cccgcctgtg agagacattc
     2101 tgagcagagg aggcttcctc ggggagggcc ccggggacac ggctgaggag gagcagctgt
     2161 tcctcagtgt gcacgatgcc gtgcagacag cacgagcccg ccacagggag ctggaggcca
     2221 ccgatgccca tctgtagcag ggccaggcct gcccagcagc ctctgctccc tcctggggac
     2281 ccacagcaga cgtctgcaag ccactgctga gacccttccc agggaggagc cacccaagag
     2341 ctgcactctt gtgccacagc tgccctgggg aaaccgggga accccaactg ggaaaggagg
     2401 ccctctgatc acacgcagga cccaaacact cagaaatcaa gaacctctgc ctccgagaca
     2461 ggctggccca cagtgctggc tgggccccaa tgcaccgtcc ctcagctcag gagggatggg
     2521 cctgacctga cgctcagggt tgacatctta tttgaacaag ggtcccccgc catcatgcag
     2581 cctccaaggt gccaagagga ctccctatgc ccaggcctgc ccggtgccca ccctgctggt
     2641 aggagccagc ggctctggcc aagtgcacga gggtctctgt gtttccagaa ggccccacac
     2701 acccaagtgc ccctcacacc tcgtgcctcc ccctcacagg gtggccacct gcaccagcgt
     2761 cagggcccag ggtgctgtga ccgatgagac ctcagctcag ccctcaggtg cagtggccct
     2821 acccagcctg gccagcagac acacacaggg atgctcacgg gtgcaccagg agccaggtgc
     2881 ggcgcagcca accctgagcc tgcagggaga cctgcaggaa gcccaccgtg ccccatgcag
     2941 gggctccctc cagcacacag ccctcacccc agcacagcca gcaaggacac gctctcccca
     3001 acagggtgct tcggcgggag gtgggggaac aaggggtctt ccgagcagcc cccagccctc
     3061 ccctcccatc tgtgcctctg taaggggctc tgggacgccc agaccctgcc cgccgcccac
     3121 ctggtggtga caagctccag cagccagtgg gtccggacct gcttgatgcc gcggtgaggg
     3181 acggcgccca cataggcgag gttgagctgc tggtcccagc tgaggacgta ctggtcagcc
     3241 tggctgtgtg gcagcggggg gctggggaca acaaaggggc ggctcagtcc cgagcctcag
     3301 catggctggc agcgcggctg acacacacgt tcaagcccag gactgcccgg gcgcaggatc
     3361 caggcgctgc ccgtgcgttc agtgactaat aaaatgaccc ttagggccag gaa
//
