LOCUS       NM_012434               3292 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens solute carrier family 17 member 5 (SLC17A5),
            transcript variant 1, mRNA.
ACCESSION   NM_012434
VERSION     NM_012434.5
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 3292)
  AUTHORS   Huang,W., Xie,C., Wewer Albrechtsen,N.J., Sang,M., Sun,Z.,
            Jones,K.L., Horowitz,M., Rayner,C.K. and Wu,T.
  TITLE     Serum alanine transaminase is predictive of fasting and
            postprandial insulin and glucagon concentrations in type 2 diabetes
  JOURNAL   Peptides 169, 171092 (2023)
   PUBMED   37673303
  REMARK    GeneRIF: Serum alanine transaminase is predictive of fasting and
            postprandial insulin and glucagon concentrations in type 2
            diabetes.
REFERENCE   2  (bases 1 to 3292)
  AUTHORS   Tarailo-Graovac,M., Drogemoller,B.I., Wasserman,W.W., Ross,C.J.,
            van den Ouweland,A.M., Darin,N., Kollberg,G., van Karnebeek,C.D.
            and Blomqvist,M.
  TITLE     Identification of a large intronic transposal insertion in SLC17A5
            causing sialic acid storage disease
  JOURNAL   Orphanet J Rare Dis 12 (1), 28 (2017)
   PUBMED   28187749
  REMARK    GeneRIF: study describes a novel pathogenic variant in SLC17A5,
            namely an intronic transposal insertion, in a patient with mild
            biochemical and clinical phenotypes. The presence of a small
            fraction of normal transcript may explain the mild phenotype. This
            case illustrates the importance of including lysosomal sialic acid
            storage disease in the differential diagnosis of developmental
            delay with postnatal onset and hypomyelination.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3292)
  AUTHORS   Yokoyama,M., Watanabe,T., Otaki,Y., Takahashi,H., Arimoto,T.,
            Shishido,T., Miyamoto,T., Konta,T., Shibata,Y., Daimon,M., Ueno,Y.,
            Kato,T., Kayama,T. and Kubota,I.
  TITLE     Association of the Aspartate Aminotransferase to Alanine
            Aminotransferase Ratio with BNP Level and Cardiovascular Mortality
            in the General Population: The Yamagata Study 10-Year Follow-Up
  JOURNAL   Dis Markers 2016, 4857917 (2016)
   PUBMED   27872510
  REMARK    GeneRIF: Elevated levels of AST are Associated with Cardiovascular
            disease.
REFERENCE   4  (bases 1 to 3292)
  AUTHORS   Qin,L., Liu,X., Sun,Q., Fan,Z., Xia,D., Ding,G., Ong,H.L.,
            Adams,D., Gahl,W.A., Zheng,C., Qi,S., Jin,L., Zhang,C., Gu,L.,
            He,J., Deng,D., Ambudkar,I.S. and Wang,S.
  TITLE     Sialin (SLC17A5) functions as a nitrate transporter in the plasma
            membrane
  JOURNAL   Proc Natl Acad Sci U S A 109 (33), 13434-13439 (2012)
   PUBMED   22778404
  REMARK    GeneRIF: These data demonstrate that sialin mediates nitrate influx
            into salivary gland and other cell types.
REFERENCE   5  (bases 1 to 3292)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   6  (bases 1 to 3292)
  AUTHORS   Adams,D. and Wasserstein,M.
  TITLE     Free Sialic Acid Storage Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301643
REFERENCE   7  (bases 1 to 3292)
  AUTHORS   Mancini,G.M., Beerens,C.E., Aula,P.P. and Verheijen,F.W.
  TITLE     Sialic acid storage diseases. A multiple lysosomal transport defect
            for acidic monosaccharides
  JOURNAL   J Clin Invest 87 (4), 1329-1335 (1991)
   PUBMED   2010546
REFERENCE   8  (bases 1 to 3292)
  AUTHORS   Cameron,P.D., Dubowitz,V., Besley,G.T. and Fensom,A.H.
  TITLE     Sialic acid storage disease
  JOURNAL   Arch Dis Child 65 (3), 314-315 (1990)
   PUBMED   2334213
REFERENCE   9  (bases 1 to 3292)
  AUTHORS   Renlund,M., Tietze,F. and Gahl,W.A.
  TITLE     Defective sialic acid egress from isolated fibroblast lysosomes of
            patients with Salla disease
  JOURNAL   Science 232 (4751), 759-762 (1986)
   PUBMED   3961501
REFERENCE   10 (bases 1 to 3292)
  AUTHORS   Tondeur,M., Libert,J., Vamos,E., Van Hoof,F., Thomas,G.H. and
            Strecker,G.
  TITLE     Infantile form of sialic acid storage disorder: clinical,
            ultrastructural, and biochemical studies in two siblings
  JOURNAL   Eur J Pediatr 139 (2), 142-147 (1982)
   PUBMED   7151835
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP288187.1, BC020961.2 and
            AK026921.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_012434.4.
            
            Summary: This gene encodes a membrane transporter that exports free
            sialic acids that have been cleaved off of cell surface lipids and
            proteins from lysosomes. Mutations in this gene cause sialic acid
            storage diseases, including infantile sialic acid storage disorder
            and and Salla disease, an adult form. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR3476690.683507.1,
                                           SRR1660803.135774.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355773.6/ ENSP00000348019.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-560               BP288187.1         23-582
            561-2378            BC020961.2         542-2359
            2379-2568           AK026921.1         1066-1255
            2569-3292           BC020961.2         2550-3273
FEATURES             Location/Qualifiers
     source          1..3292
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..3292
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /note="solute carrier family 17 member 5"
                     /db_xref="GeneID:26503"
                     /db_xref="HGNC:HGNC:10933"
                     /db_xref="MIM:604322"
     exon            1..200
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..1594
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /note="isoform 1 is encoded by transcript variant 1;
                     H(+)/nitrate cotransporter; H(+)/sialic acid
                     cotransporter; vesicular H(+)/Aspartate-glutamate
                     cotransporter; solute carrier family 17 (anion/sugar
                     transporter), member 5; membrane glycoprotein HP59;
                     sodium/sialic acid cotransporter; solute carrier family 17
                     (acidic sugar transporter), member 5; sialic acid storage
                     disease; infantile sialic acid storage disorder; vesicular
                     excitatory amino acid transporter"
                     /codon_start=1
                     /product="sialin isoform 1"
                     /protein_id="NP_036566.1"
                     /db_xref="CCDS:CCDS4981.1"
                     /db_xref="GeneID:26503"
                     /db_xref="HGNC:HGNC:10933"
                     /db_xref="MIM:604322"
                     /translation="MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAI
                     LAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQ
                     WDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
                     VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSG
                     IICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSS
                     QKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLP
                     YLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLA
                     VAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPD
                     NTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH"
     exon            201..397
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            398..631
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            632..719
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            720..806
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            807..925
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1084
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1217
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1365
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1456
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..3292
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3273..3278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /note="hexamer: AATAAA"
     polyA_site      3292
                     /gene="SLC17A5"
                     /gene_synonym="AST; ISSD; NSD; SD; SIALIN; SIASD; SLD;
                     VEAT"
                     /note="major polyA site"
ORIGIN      
        1 gcccccgccc cgcccggtcc agccagctcg gcccgggggc ttcgggctgt cgggccggcg
       61 ctcccttctc tgccaggtgg cgagtacacc tgctcacgta ggcgtcatga ggtctccggt
      121 tcgagacctg gcccggaacg atggcgagga gagcacggac cgcacgcctc ttctaccggg
      181 cgccccacgg gccgaagccg ctccagtgtg ctgctctgct cgttacaact tagcaatttt
      241 ggcctttttt ggtttcttca ttgtgtatgc attacgtgtg aatctgagtg ttgcgttagt
      301 ggatatggta gattcaaata caactttaga agataataga acttccaagg cgtgtccaga
      361 gcattctgct cccataaaag ttcatcataa tcaaacgggt aagaagtacc aatgggatgc
      421 agaaactcaa ggatggattc tcggttcctt tttttatggc tacatcatca cacagattcc
      481 tggaggatat gttgccagca aaataggggg gaaaatgctg ctaggatttg ggatccttgg
      541 cactgctgtc ctcaccctgt tcactcccat tgctgcagat ttaggagttg gaccactcat
      601 tgtactcaga gcactagaag gactaggaga gggtgttaca tttccagcca tgcatgccat
      661 gtggtcttct tgggctcccc ctcttgaaag aagcaaactt cttagcattt catatgcagg
      721 agcacagctt gggacagtaa tttctcttcc tctttctgga ataatttgct actatatgaa
      781 ttggacttat gtcttctact tttttggtac tattggaata ttttggtttc ttttgtggat
      841 ctggttagtt agtgacacac cacaaaaaca caagagaatt tcccattatg aaaaggaata
      901 cattctttca tcattaagaa atcagctttc ttcacagaag tcagtgccgt gggtacccat
      961 tttaaaatcc ctgccacttt gggctatcgt agttgcacac ttttcttaca actggacttt
     1021 ttatacttta ttgacattat tgcctactta tatgaaggag atcctaaggt tcaatgttca
     1081 agagaatggg tttttatctt cattgcctta tttaggctct tggttatgta tgatcctgtc
     1141 tggtcaagct gctgacaatt taagggcaaa atggaatttt tcaactttat gtgttcgcag
     1201 aatttttagc cttataggaa tgattggacc tgcagtattc ctggtagctg ctggcttcat
     1261 tggctgtgat tattctttgg ccgttgcttt cctaactata tcaacaacac tgggaggctt
     1321 ttgctcttct ggatttagca tcaaccatct ggatattgct ccttcgtatg ctggtatcct
     1381 cctgggcatc acaaatacat ttgccactat tccaggaatg gttgggcccg tcattgctaa
     1441 aagtctgacc cctgataaca ctgttggaga atggcaaacc gtgttctata ttgctgctgc
     1501 tattaatgtt tttggtgcca ttttctttac actattcgcc aaaggtgaag tacaaaactg
     1561 ggctctcaat gatcaccatg gacacagaca ctgaaggaac caataaataa tcctgcctct
     1621 attaatgtat ttttatttat catgtaacct caaagtgcct tctgtattgt gtaagcattc
     1681 tatgtctttt tttaattgta cttgtattag atttttaagg cctataatca tgaaatatca
     1741 ctagttgcca gaataataaa atgaactgtg tttaattatg aataatatgt aagctaggac
     1801 ttctacttta ggttcacata cctgcctgct agtcgggcaa catgaagtag gacagttctg
     1861 ttgatttttt agggccatac taaagggaat gagctgaaac agacctcctg atacctttgc
     1921 ttaattaaac tagatgataa ttctcaggta ctgataaaca cctgttgttg ttcactttcc
     1981 tcataaaaat tgtcagctct ctctgacact tagacctcaa actttagcat ctctgtggag
     2041 ctgccatcca ctgtataatt tcgcctggca actggactga ggggagtgtg cccaggcagc
     2101 tgccaagcac tccctccctg gcttcagggt cagagtgccc agcgtttatc agaggcagca
     2161 tccaagccca gagccagtgt cgactcttcg gctggtgcct ttcctctgag gggctatcaa
     2221 tgtgtagata aagccctgag taggcaagag cagtgagatc cactgctatg gtcttgatac
     2281 atcctcaaac tttcccttcc cagcacagag gaatattggc tggcatgcaa cctgcaaaag
     2341 aaaaatgcga agcggccggg cacggtggct catgcctgta atcccagcac tttggggggc
     2401 tgaggtgggc gaatcatgag atcaggagtt cgagaccagc ctggccagca tggtgaaacc
     2461 ccatctctac taaaaataca aaaaattagc tgggcgtggt gacgggcgcc tgtaatccca
     2521 gatactcagg aggctgaggt aggagaatca cttgaacctg ggaggtggaa gttgcagtga
     2581 accaagatca cgccactgca ctccagcctg ggcgatggag cgagactcca actcaaaaaa
     2641 aaaaaaagaa taaagaaaga aaagtgcgat gcccagtcaa tcacaaataa gatcatcctg
     2701 gtttaaatct actctcacat ggatcacagt ataaatttct atgtgctgtg ttttgttcgt
     2761 ttgtattttg tagagatggg gtctcgtttt gtcgcccagg ctggttttga actcctggct
     2821 tcaagcgatc ctcctgtctc ggcctcacaa agtgttgaga ctacaggcat gagccactgt
     2881 gcccagcctg ttctatgttt ttaagctaca cgagaatttt ttttttaatt aattctcact
     2941 gtttgttcag tctgtcttca tctaagtttg tgttgcagtt taaagttaaa gtgactttta
     3001 aaggccacat cacctgagac tagggtaatc atctttactt ctggttcctg aaatcatatt
     3061 tttccagtgg accatcctcc agtggctgtg gttgttgagc atgctttcag aacacctatg
     3121 tggcttaaaa cttagtttat gttttgtgtt caacactacg tgtaatattt taaaactgtt
     3181 taatgtgatg tgaatacatt tatgtacatt tatttttaaa tttgtaaata gctttaaatt
     3241 gctatggcaa tgtttctttt ataaatcatc aaaataaacc tttgtgaatt ga
//
