LOCUS       NM_001352248            2402 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens solute carrier family 5 member 11 (SLC5A11),
            transcript variant 14, mRNA.
ACCESSION   NM_001352248
VERSION     NM_001352248.3
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 2402)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   2  (bases 1 to 2402)
  AUTHORS   Chung,S.A., Brown,E.E., Williams,A.H., Ramos,P.S., Berthier,C.C.,
            Bhangale,T., Alarcon-Riquelme,M.E., Behrens,T.W., Criswell,L.A.,
            Graham,D.C., Demirci,F.Y., Edberg,J.C., Gaffney,P.M., Harley,J.B.,
            Jacob,C.O., Kamboh,M.I., Kelly,J.A., Manzi,S., Moser-Sivils,K.L.,
            Russell,L.P., Petri,M., Tsao,B.P., Vyse,T.J., Zidovetzki,R.,
            Kretzler,M., Kimberly,R.P., Freedman,B.I., Graham,R.R. and
            Langefeld,C.D.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   3  (bases 1 to 2402)
  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   4  (bases 1 to 2402)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2402)
  AUTHORS   Lin,X., Ma,L., Fitzgerald,R.L. and Ostlund,R.E. Jr.
  TITLE     Human sodium/inositol cotransporter 2 (SMIT2) transports inositols
            but not glucose in L6 cells
  JOURNAL   Arch Biochem Biophys 481 (2), 197-201 (2009)
   PUBMED   19032932
REFERENCE   6  (bases 1 to 2402)
  AUTHORS   Tsai,L.J., Hsiao,S.H., Tsai,L.M., Lin,C.Y., Tsai,J.J., Liou,D.M.
            and Lan,J.L.
  TITLE     The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune
            modifier gene in SLE
  JOURNAL   Tissue Antigens 71 (2), 114-126 (2008)
   PUBMED   18069935
  REMARK    GeneRIF: SLC5A11 is involved with some immune effects and interacts
            with immune-related gene(s); it is consistent with its function as
            an autoimmune modifier gene.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2402)
  AUTHORS   Coady,M.J., Wallendorff,B., Gagnon,D.G. and Lapointe,J.Y.
  TITLE     Identification of a novel Na+/myo-inositol cotransporter
  JOURNAL   J Biol Chem 277 (38), 35219-35224 (2002)
   PUBMED   12133831
REFERENCE   8  (bases 1 to 2402)
  AUTHORS   Roll,P., Massacrier,A., Pereira,S., Robaglia-Schlupp,A., Cau,P. and
            Szepetowski,P.
  TITLE     New human sodium/glucose cotransporter gene (KST1): identification,
            characterization, and mutation analysis in ICCA (infantile
            convulsions and choreoathetosis) and BFIC (benign familial
            infantile convulsions) families
  JOURNAL   Gene 285 (1-2), 141-148 (2002)
   PUBMED   12039040
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008731.8 and KC877600.1.
            
            On Apr 27, 2021 this sequence version replaced NM_001352248.2.
            
            Summary: Cotransporters, such as SLC5A11, represent a major class
            of proteins that make use of ion gradients to drive active
            transport for the cellular accumulation of nutrients,
            neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed
            12039040].[supplied by OMIM, Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.1512018.1,
                                           SRR1660809.124346.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000424767.7/ ENSP00000416782.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                AC008731.8         91661-91710         c
            51-257              AC008731.8         91235-91441         c
            258-416             AC008731.8         78895-79053         c
            417-488             AC008731.8         75001-75072         c
            489-593             AC008731.8         67668-67772         c
            594-653             AC008731.8         65454-65513         c
            654-758             AC008731.8         61942-62046         c
            759-864             AC008731.8         60310-60415         c
            865-945             AC008731.8         53542-53622         c
            946-971             KC877600.1         54-79
            972-1151            AC008731.8         46599-46778         c
            1152-1287           AC008731.8         39564-39699         c
            1288-1395           AC008731.8         30909-31016         c
            1396-1546           AC008731.8         30498-30648         c
            1547-1715           AC008731.8         29542-29710         c
            1716-1931           AC008731.8         28577-28792         c
            1932-2103           AC008731.8         27196-27367         c
            2104-2402           AC008731.8         26047-26345         c
FEATURES             Location/Qualifiers
     source          1..2402
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..2402
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /note="solute carrier family 5 member 11"
                     /db_xref="GeneID:115584"
                     /db_xref="HGNC:HGNC:23091"
                     /db_xref="MIM:610238"
     exon            1..50
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            51..257
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            258..416
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..2309
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /note="isoform 1 is encoded by transcript variant 14;
                     putative sodium-coupled cotransporter RKST1; solute
                     carrier family 5 (sodium/glucose cotransporter), member
                     11; homolog of rabbit KST1; sodium/myo-inositol
                     cotransporter 2; sodium/glucose cotransporter KST1;
                     sodium-dependent glucose cotransporter; Na(+)/myo-inositol
                     cotransporter 2; sodium/myo-inositol transporter 2; solute
                     carrier family 5 (sodium/inositol cotransporter), member
                     11"
                     /codon_start=1
                     /product="sodium/myo-inositol cotransporter 2 isoform 1"
                     /protein_id="NP_001339177.1"
                     /db_xref="CCDS:CCDS10625.1"
                     /db_xref="GeneID:115584"
                     /db_xref="HGNC:HGNC:23091"
                     /db_xref="MIM:610238"
                     /translation="MESGTSSPQPPQLDPLDAFPQKGLEPGDIAVLVLYFLFVLAVGL
                     WSTVKTKRDTVKGYFLAGGDMVWWPVGASLFASNVGSGHFIGLAGSGAATGISVSAYE
                     LNGLFSVLMLAWIFLPIYIAGQVTTMPEYLRKRFGGIRIPIILAVLYLFIYIFTKISV
                     DMYAGAIFIQQSLHLDLYLAIVGLLAITAVYTVAGGLAAVIYTDALQTLIMLIGALTL
                     MGYSFAAVGGMEGLKEKYFLALASNRSENSSCGLPREDAFHIFRDPLTSDLPWPGVLF
                     GMSIPSLWYWCTDQVIVQRTLAAKNLSHAKGGALMAAYLKVLPLFIMVFPGMVSRILF
                     PDQVACADPEICQKICSNPSGCSDIAYPKLVLELLPTGLRGLMMAVMVAALMSSLTSI
                     FNSASTIFTMDLWNHLRPRASEKELMIVGRVFVLLLVLVSILWIPVVQASQGGQLFIY
                     IQSISSYLQPPVAVVFIMGCFWKRTNEKGAFWGLISGLLLGLVRLVLDFIYVQPRCDQ
                     PDERPVLVKSIHYLYFSMILSTVTLITVSTVSWFTEPPSKEMVSHLTWFTRHDPVVQK
                     EQAPPAAPLSLTLSQNGMPEASSSSSVQFEMVQENTSKTHSCDMTPKQSKVVKAILWL
                     CGIQEKGKEELPARAEAIIVSLEENPLVKTLLDVNLIFCVSCAIFIWGYFA"
     exon            417..488
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            489..593
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            594..653
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            654..758
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            759..864
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            865..945
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1151
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1287
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1395
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1546
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1715
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1716..1931
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1932..2103
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..2402
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2380..2385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /note="hexamer: AATAAA"
     polyA_site      2399
                     /gene="SLC5A11"
                     /gene_synonym="KST1; RKST1; SGLT6; SMIT2"
                     /note="major polyA site"
ORIGIN      
        1 gtcccaagcc tgcctgtccc cagcgtggag gcgggacagt ggaagactgg ctgaggctgg
       61 agtttggagt ttgacccgct tggaggctct ctcagcagcg ggcatatagg aggaagggtc
      121 actgctgtct ccggaagctc ttggctgcaa agagagagga tcccgggtat ctccctcctt
      181 acaaccaccg ccacctccta gtgccttaga agccactgac agcccccagg gcaggtgagc
      241 cctgcatctg gaataaggat ccagaggtct cgttcaggac catggagagc ggcaccagca
      301 gccctcagcc tccacagtta gatcccctgg atgcgtttcc ccagaagggc ttggagcctg
      361 gggacatcgc ggtgctagtt ctgtacttcc tctttgtcct ggctgttgga ctatggtcca
      421 cagtgaagac caaaagagac acagtgaaag gctacttcct ggctggaggg gacatggtgt
      481 ggtggccagt gggtgcatcc ttgtttgcca gcaatgttgg aagtggacat ttcattggcc
      541 tggcagggtc aggtgctgct acgggcattt ctgtatcagc ttatgaactt aatggcttgt
      601 tttctgtgct gatgttggcc tggatcttcc tacccatcta cattgctggt caggtcacca
      661 cgatgccaga atacctacgg aagcgcttcg gtggcatcag aatccccatc atcctggctg
      721 tactctacct atttatctac atcttcacca agatctcggt agacatgtat gcaggtgcca
      781 tcttcatcca gcagtctttg cacctggatc tgtacctggc catagttggg ctactggcca
      841 tcactgctgt atacacggtt gctggtggcc tggctgctgt gatctacacg gatgccctgc
      901 agacgctgat catgcttata ggagcgctca ccttgatggg ctacagtttc gccgcggttg
      961 gtgggatgga aggactgaag gagaagtact tcttggccct ggctagcaac cggagtgaga
     1021 acagcagctg cgggctgccc cgggaagatg ccttccatat tttccgagat ccgctgacat
     1081 ctgatctccc gtggccgggg gtcctatttg gaatgtccat cccatccctc tggtactggt
     1141 gcacggatca ggtgattgtc cagcggactc tggctgccaa gaacctgtcc catgccaaag
     1201 gaggtgctct gatggctgca tacctgaagg tgctgcccct cttcataatg gtgttccctg
     1261 ggatggtcag ccgcatcctc ttcccagatc aagtggcctg tgcagatcca gagatctgcc
     1321 agaagatctg cagcaacccc tcaggctgtt cggacatcgc gtatcccaaa ctcgtgctgg
     1381 aactcctgcc cacagggctc cgtgggctga tgatggctgt gatggtggcg gctctcatgt
     1441 cctccctcac ctccatcttt aacagtgcca gcaccatctt caccatggac ctctggaatc
     1501 acctccggcc tcgggcatct gagaaggagc tcatgattgt gggcagggtg tttgtgctgc
     1561 tgctggtcct ggtctccatc ctctggatcc ctgtggtcca ggccagccag ggcggccagc
     1621 tcttcatcta tatccagtcc atcagctcct acctgcagcc gcctgtggcg gtggtcttca
     1681 tcatgggatg tttctggaag aggaccaatg aaaagggtgc cttctggggc ctgatctcgg
     1741 gcctgctcct gggcttggtt aggctggtcc tggactttat ttacgtgcag cctcgatgcg
     1801 accagccaga tgagcgcccg gtcctggtga agagcattca ctacctctac ttctccatga
     1861 tcctgtccac ggtcaccctc atcactgtct ccaccgtgag ctggttcaca gagccaccct
     1921 ccaaggagat ggtcagccac ctgacctggt ttactcgtca cgaccccgtg gtccagaagg
     1981 aacaagcacc accagcagct cccttgtctc ttaccctctc tcagaacggg atgccagagg
     2041 ccagcagcag cagcagcgtc cagttcgaga tggttcaaga aaacacgtct aaaacccaca
     2101 gctgtgacat gaccccaaag cagtccaaag tggtgaaggc catcctgtgg ctctgtggaa
     2161 tacaggagaa gggcaaggaa gagctcccgg ccagagcaga agccatcata gtttccctgg
     2221 aagaaaaccc cttggtgaag accctcctgg acgtcaacct cattttctgc gtgagctgcg
     2281 ccatctttat ctggggctat tttgcttagt gtggggtgaa cccaggggtc caaactctgt
     2341 ttctcttcag tgctccattt ttttaatgaa agaaaaaata ataaagcttt tgtttaccac
     2401 aa
//
