LOCUS       NM_177550               3231 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens solute carrier family 13 member 5 (SLC13A5),
            transcript variant 1, mRNA.
ACCESSION   NM_177550
VERSION     NM_177550.5
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 3231)
  AUTHORS   Alsemari,A., Guzman-Vega,F.J., Meyer,B.F. and Arold,S.T.
  TITLE     Novel Homozygous Variants of SLC13A5 Expand the Functional
            Heterogeneity of a Homogeneous Syndrome of Early Infantile
            Epileptic Encephalopathy
  JOURNAL   Pediatr Neurol 151, 68-72 (2024)
   PUBMED   38113697
  REMARK    GeneRIF: Novel Homozygous Variants of SLC13A5 Expand the Functional
            Heterogeneity of a Homogeneous Syndrome of Early Infantile
            Epileptic Encephalopathy.
REFERENCE   2  (bases 1 to 3231)
  AUTHORS   Fernandez-Fuente,G., Overmyer,K.A., Lawton,A.J., Kasza,I.,
            Shapiro,S.L., Gallego-Munoz,P., Coon,J.J., Denu,J.M.,
            Alexander,C.M. and Puglielli,L.
  TITLE     The citrate transporters SLC13A5 and SLC25A1 elicit different
            metabolic responses and phenotypes in the mouse
  JOURNAL   Commun Biol 6 (1), 926 (2023)
   PUBMED   37689798
  REMARK    GeneRIF: The citrate transporters SLC13A5 and SLC25A1 elicit
            different metabolic responses and phenotypes in the mouse.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3231)
  AUTHORS   Kumar,A., Cordes,T., Thalacker-Mercer,A.E., Pajor,A.M., Murphy,A.N.
            and Metallo,C.M.
  TITLE     NaCT/SLC13A5 facilitates citrate import and metabolism under
            nutrient-limited conditions
  JOURNAL   Cell Rep 36 (11), 109701 (2021)
   PUBMED   34525352
  REMARK    GeneRIF: NaCT/SLC13A5 facilitates citrate import and metabolism
            under nutrient-limited conditions.
REFERENCE   4  (bases 1 to 3231)
  AUTHORS   Sun,Q., Niu,Q., Guo,Y., Zhuang,Y., Li,X., Liu,J., Li,N., Li,Z.,
            Huang,F. and Qiu,Z.
  TITLE     Regulation on Citrate Influx and Metabolism through Inhibiting
            SLC13A5 and ACLY: A Novel Mechanism Mediating the Therapeutic
            Effects of Curcumin on NAFLD
  JOURNAL   J Agric Food Chem 69 (31), 8714-8725 (2021)
   PUBMED   34323067
  REMARK    GeneRIF: Regulation on Citrate Influx and Metabolism through
            Inhibiting SLC13A5 and ACLY: A Novel Mechanism Mediating the
            Therapeutic Effects of Curcumin on NAFLD.
REFERENCE   5  (bases 1 to 3231)
  AUTHORS   Thevenon,J., Milh,M., Feillet,F., St-Onge,J., Duffourd,Y., Juge,C.,
            Roubertie,A., Heron,D., Mignot,C., Raffo,E., Isidor,B., Wahlen,S.,
            Sanlaville,D., Villeneuve,N., Darmency-Stamboul,V., Toutain,A.,
            Lefebvre,M., Chouchane,M., Huet,F., Lafon,A., de Saint Martin,A.,
            Lesca,G., El Chehadeh,S., Thauvin-Robinet,C., Masurel-Paulet,A.,
            Odent,S., Villard,L., Philippe,C., Faivre,L. and Riviere,J.B.
  TITLE     Mutations in SLC13A5 cause autosomal-recessive epileptic
            encephalopathy with seizure onset in the first days of life
  JOURNAL   Am J Hum Genet 95 (1), 113-120 (2014)
   PUBMED   24995870
  REMARK    GeneRIF: Screening of 68 additional unrelated individuals with
            early-onset epileptic encephalopathy for SLC13A5 mutations led to
            identification of one additional subject with heterozygous
            mutations of SLC13A5 and a similar clinical presentation as index
            subjects
REFERENCE   6  (bases 1 to 3231)
  AUTHORS   Gopal,E., Miyauchi,S., Martin,P.M., Ananth,S., Srinivas,S.R.,
            Smith,S.B., Prasad,P.D. and Ganapathy,V.
  TITLE     Expression and functional features of NaCT, a sodium-coupled
            citrate transporter, in human and rat livers and cell lines
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 292 (1), G402-G408 (2007)
   PUBMED   16973915
  REMARK    GeneRIF: Expression and function of NaCT in a cell line and in
            primary hepatocytes.
REFERENCE   7  (bases 1 to 3231)
  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 3231)
  AUTHORS   Markovich,D. and Murer,H.
  TITLE     The SLC13 gene family of sodium sulphate/carboxylate cotransporters
  JOURNAL   Pflugers Arch 447 (5), 594-602 (2004)
   PUBMED   12915942
  REMARK    Review article
            Erratum:[Pflugers Arch. 2004 Feb;447(5):816-7]
REFERENCE   9  (bases 1 to 3231)
  AUTHORS   Inoue,K., Zhuang,L., Maddox,D.M., Smith,S.B. and Ganapathy,V.
  TITLE     Human sodium-coupled citrate transporter, the orthologue of
            Drosophila Indy, as a novel target for lithium action
  JOURNAL   Biochem J 374 (Pt 1), 21-26 (2003)
   PUBMED   12826022
  REMARK    GeneRIF: mediates the utilization of extracellular citrate for fat
            synthesis in human liver cells, and that the process is stimulated
            by lithium
REFERENCE   10 (bases 1 to 3231)
  AUTHORS   Inoue,K., Zhuang,L. and Ganapathy,V.
  TITLE     Human Na+ -coupled citrate transporter: primary structure, genomic
            organization, and transport function
  JOURNAL   Biochem Biophys Res Commun 299 (3), 465-471 (2002)
   PUBMED   12445824
  REMARK    GeneRIF: This paper describes the cloning and functional
            characterization of the human Na(+)-coupled citrate transporter
            (NaCT).
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC104795.1, CR749584.1,
            AK127797.1 and H29568.1.
            
            On Aug 31, 2019 this sequence version replaced NM_177550.4.
            
            Summary: This gene encodes a protein belonging to the solute
            carrier family 13 group of proteins. This family member is a
            sodium-dependent citrate cotransporter that may regulate metabolic
            processes. Mutations in this gene cause early infantile epileptic
            encephalopathy 25. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AY151833.1, AK172785.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000433363.7/ ENSP00000406220.2
            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
            1-1853              BC104795.1         9-1861
            1854-2132           CR749584.1         1020-1298
            2133-2969           AK127797.1         2082-2918
            2970-3185           AK127797.1         2920-3135
            3186-3231           H29568.1           34-79               c
FEATURES             Location/Qualifiers
     source          1..3231
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..3231
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /note="solute carrier family 13 member 5"
                     /db_xref="GeneID:284111"
                     /db_xref="HGNC:HGNC:23089"
                     /db_xref="MIM:608305"
     exon            1..138
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1743
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /note="isoform a is encoded by transcript variant 1;
                     Na(+)/citrate cotransporter; Na+-coupled citrate
                     transporter protein; solute carrier family 13
                     (sodium-dependent citrate transporter), member 5;
                     sodium-dependent dicarboxylate transporter; mammalian INDY
                     homolog"
                     /codon_start=1
                     /product="Na(+)/citrate cotransporter isoform a"
                     /protein_id="NP_808218.1"
                     /db_xref="CCDS:CCDS11079.1"
                     /db_xref="GeneID:284111"
                     /db_xref="HGNC:HGNC:23089"
                     /db_xref="MIM:608305"
                     /translation="MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIIL
                     MAIYWCTEVIPLAVTSLMPVLLFPLFQILDSRQVCVQYMKDTNMLFLGGLIVAVAVER
                     WNLHKRIALRTLLWVGAKPARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQME
                     ATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASI
                     GGTATLTGTGPNVVLLGQMNELFPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVY
                     MRFNFKKSWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVLICFFLLVILWFSRD
                     PGFMPGWLTVAWVEGETKYVSDATVAIFVATLLFIVPSQKPKFNFRSQTEEERKTPFY
                     PPPLLDWKVTQEKVPWGIVLLLGGGFALAKGSEASGLSVWMGKQMEPLHAVPPAAITL
                     ILSLLVAVFTECTSNVATTTLFLPIFASMSRSIGLNPLYIMLPCTLSASFAFMLPVAT
                     PPNAIVFTYGHLKVADMVKTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDWANVTHI
                     ET"
     exon            139..267
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            268..404
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            405..583
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            584..752
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            753..875
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            876..1091
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1192
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1311
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1473
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1611
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     exon            1612..3231
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3206..3211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /note="hexamer: ATTAAA"
     polyA_site      3231
                     /gene="SLC13A5"
                     /gene_synonym="DEE25; EIEE25; INDY; mIndy; NACT"
                     /note="major polyA site"
ORIGIN      
        1 ctcactcgtc tcgcccgcca gtctccctcc cgcgcgatgg cctcggcgct gagctatgtc
       61 tccaagttca agtccttcgt gatcttgttc gtcaccccgc tcctgctgct gccactcgtc
      121 attctgatgc ccgccaagtt tgtcaggtgt gcctacgtca tcatcctcat ggccatttac
      181 tggtgcacag aagtcatccc tctggctgtc acctctctca tgcctgtctt gcttttccca
      241 ctcttccaga ttctggactc caggcaggtg tgtgtccagt acatgaagga caccaacatg
      301 ctgttcctgg gcggcctcat cgtggccgtg gctgtggagc gctggaacct gcacaagagg
      361 atcgccctgc gcacgctcct ctgggtgggg gccaagcctg cacggctgat gctgggcttc
      421 atgggcgtca cagccctcct gtccatgtgg atcagtaaca cggcaaccac ggccatgatg
      481 gtgcccatcg tggaggccat attgcagcag atggaagcca caagcgcagc caccgaggcc
      541 ggcctggagc tggtggacaa gggcaaggcc aaggagctgc cagggagtca agtgattttt
      601 gaaggcccca ctctggggca gcaggaagac caagagcgga agaggttgtg taaggccatg
      661 accctgtgca tctgctacgc ggccagcatc gggggcaccg ccaccctgac cgggacggga
      721 cccaacgtgg tgctcctggg ccagatgaac gagttgtttc ctgacagcaa ggacctcgtg
      781 aactttgctt cctggtttgc atttgccttt cccaacatgc tggtgatgct gctgttcgcc
      841 tggctgtggc tccagtttgt ttacatgaga ttcaatttta aaaagtcctg gggctgcggg
      901 ctagagagca agaaaaacga gaaggctgcc ctcaaggtgc tgcaggagga gtaccggaag
      961 ctggggccct tgtccttcgc ggagatcaac gtgctgatct gcttcttcct gctggtcatc
     1021 ctgtggttct cccgagaccc cggcttcatg cccggctggc tgactgttgc ctgggtggag
     1081 ggtgagacaa agtatgtctc cgatgccact gtggccatct ttgtggccac cctgctattc
     1141 attgtgcctt cacagaagcc caagtttaac ttccgcagcc agactgagga agaaaggaaa
     1201 actccatttt atccccctcc cctgctggat tggaaggtaa cccaggagaa agtgccctgg
     1261 ggcatcgtgc tgctactagg gggcggattt gctctggcta aaggatccga ggcctcgggg
     1321 ctgtccgtgt ggatggggaa gcagatggag cccttgcacg cagtgccccc ggcagccatc
     1381 accttgatct tgtccttgct cgttgccgtg ttcactgagt gcacaagcaa cgtggccacc
     1441 accaccttgt tcctgcccat ctttgcctcc atgtctcgct ccatcggcct caatccgctg
     1501 tacatcatgc tgccctgtac cctgagtgcc tcctttgcct tcatgttgcc tgtggccacc
     1561 cctccaaatg ccatcgtgtt cacctatggg cacctcaagg ttgctgacat ggtgaaaaca
     1621 ggagtcataa tgaacataat tggagtcttc tgtgtgtttt tggctgtcaa cacctgggga
     1681 cgggccatat ttgacttgga tcatttccct gactgggcta atgtgacaca tattgagact
     1741 taggaagagc cacaagacca cacacacagc ccttaccctc ctcaggacta ccgaaccttc
     1801 tggcacacct tgtacagagt tttggggttc acaccccaaa atgacccaac gatgtccaca
     1861 caccaccaaa acccagccaa tgggccacct cttcctccaa gcccagatgc agagatggtc
     1921 atgggcagct ggagggtagg ctcagaaatg aagggaaccc ctcagtgggc tgctggaccc
     1981 atctttccca agccttgcca ttatctctgt gagggaggcc aggtagccga gggatcagga
     2041 tgcaggctgc tgtacccgct ctgcctcaag catcccccac acagggctct ggttttcact
     2101 cgcttcgtcc tagatagttt aaatgggaat cggatcccct ggttgagagc taagacaacc
     2161 acctaccagt gcccatgtcc cttccagctc accttgagca gcctcagatc atctctgtca
     2221 ctctggaagg gacaccccag ccagggacgg aatgcctggt cttgagcaac ctcccactgc
     2281 tggagtgcga gtgggaatca gagcctcctg aagcctctgg gaactcctcc tgtggccacc
     2341 accaaaggat gaggaatctg agttgccaac ttcaggacga cacctggctt gccacccaca
     2401 gtgcaccaca ggccaaccta cgcccttcat cacttggttc tgttttaatc gactggcccc
     2461 ctgtcccacc tctccagtga gcctccttca actccttggt cccctgttgt ctgggtcaac
     2521 atttgccgag acgccttggc tggcaccctc tggggtcccc cttttctccc aggcaggtca
     2581 tcttttctgg gagatgcttc ccctgccatc cccaaatagc taggatcaca ctccaagtat
     2641 gggcagtgat ggcgctctgg gggccacagt gggctatcta ggccctccct cacctgaggc
     2701 ccagagtgga cacagctgtt aatttccact ggctatgcca cttcagagtc tttcatgcca
     2761 gcgtttgagc tcctctgggt aaaatcttcc ctttgttgac tggccttcac agccatggct
     2821 ggtgacaaca gaggatcgtt gagattgagc agcgcttggt gatctctcag caaacaaccc
     2881 ctgcccgtgg gccaatctac ttgaagttac tcggacaaag accccaaagt ggggcaacaa
     2941 ctccagagag gctgtgggaa tcttcagaac ccccctgtaa gagacagaca tgagagacaa
     3001 gcatcttctt tcccccgcaa gtccatttta tttccttctt gtgctgctct ggaagagagg
     3061 cagtagcaaa gagatgagct cctggatggc attttccagg gcaggagaaa gtatgagagc
     3121 ctcaggaaac cccatcaagg accgagtatg tgtctggttc cttgggtggg acgattcctg
     3181 accacactgt ccagctcttg ctctcattaa atgctctgtc tcccgcggaa a
//
