LOCUS       NM_021095               3213 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens solute carrier family 5 member 6 (SLC5A6), transcript
            variant 1, mRNA.
ACCESSION   NM_021095
VERSION     NM_021095.4
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 3213)
  AUTHORS   Utsuno,Y., Hamada,K., Hamanaka,K., Miyoshi,K., Tsuchimoto,K.,
            Sunada,S., Itai,T., Sakamoto,M., Tsuchida,N., Uchiyama,Y.,
            Koshimizu,E., Fujita,A., Miyatake,S., Misawa,K., Mizuguchi,T.,
            Kato,Y., Saito,K., Ogata,K. and Matsumoto,N.
  TITLE     Novel missense variants cause intermediate phenotypes in the
            phenotypic spectrum of SLC5A6-related disorders
  JOURNAL   J Hum Genet 69 (2), 69-77 (2024)
   PUBMED   38012394
  REMARK    GeneRIF: Novel missense variants cause intermediate phenotypes in
            the phenotypic spectrum of SLC5A6-related disorders.
REFERENCE   2  (bases 1 to 3213)
  AUTHORS   Hsieh,C.H., Lee,J., Sung,H.H., Huang,Y.F., Ding,Y.S., Li,C.Y.,
            Yen,C.L., Hsu,C.K., Yu,C.K., Hsieh,H.Y., Hughes,M.W., Chen,P.C. and
            Shieh,C.C.
  TITLE     Novel SLC5A6 mutations lead to B lymphocyte maturation defects with
            metabolic abnormality rescuable by biotin replenishment
  JOURNAL   Clin Immunol 257, 109855 (2023)
   PUBMED   38036278
  REMARK    GeneRIF: Novel SLC5A6 mutations lead to B lymphocyte maturation
            defects with metabolic abnormality rescuable by biotin
            replenishment.
REFERENCE   3  (bases 1 to 3213)
  AUTHORS   Montomoli,M., Vetro,A., Tubili,F., Donati,M.A., Daniotti,M.,
            Pochiero,F., Rivieri,F., Girlando,S. and Guerrini,R.
  TITLE     A novel SLC5A6 homozygous variant in a family with
            multivitamin-dependent neurometabolic disorder: Phenotype expansion
            and long-term follow-up
  JOURNAL   Eur J Med Genet 66 (8), 104808 (2023)
   PUBMED   37391029
  REMARK    GeneRIF: A novel SLC5A6 homozygous variant in a family with
            multivitamin-dependent neurometabolic disorder: Phenotype expansion
            and long-term follow-up.
REFERENCE   4  (bases 1 to 3213)
  AUTHORS   Holling,T., Nampoothiri,S., Tarhan,B., Schneeberger,P.E.,
            Vinayan,K.P., Yesodharan,D., Roy,A.G., Radhakrishnan,P., Alawi,M.,
            Rhodes,L., Girisha,K.M., Kang,P.B. and Kutsche,K.
  TITLE     Novel biallelic variants expand the SLC5A6-related phenotypic
            spectrum
  JOURNAL   Eur J Hum Genet 30 (4), 439-449 (2022)
   PUBMED   35013551
  REMARK    GeneRIF: Novel biallelic variants expand the SLC5A6-related
            phenotypic spectrum.
REFERENCE   5  (bases 1 to 3213)
  AUTHORS   Sun,T., Wang,D., Ping,Y., Sang,Y., Dai,Y., Wang,Y., Liu,Z.,
            Duan,X., Tao,Z. and Liu,W.
  TITLE     Integrated profiling identifies SLC5A6 and MFAP2 as novel
            diagnostic and prognostic biomarkers in gastric cancer patients
  JOURNAL   Int J Oncol 56 (2), 460-469 (2020)
   PUBMED   31894266
  REMARK    GeneRIF: Integrated profiling identifies SLC5A6 and MFAP2 as novel
            diagnostic and prognostic biomarkers in gastric cancer patients.
REFERENCE   6  (bases 1 to 3213)
  AUTHORS   Dey,S., Subramanian,V.S., Chatterjee,N.S., Rubin,S.A. and Said,H.M.
  TITLE     Characterization of the 5' regulatory region of the human
            sodium-dependent multivitamin transporter, hSMVT
  JOURNAL   Biochim Biophys Acta 1574 (2), 187-192 (2002)
   PUBMED   11955628
REFERENCE   7  (bases 1 to 3213)
  AUTHORS   Zempleni,J., Steven Stanley,J. and Mock,D.M.
  TITLE     Proliferation of peripheral blood mononuclear cells causes
            increased expression of the sodium-dependent multivitamin
            transporter gene and increased uptake of pantothenic acidopen star
  JOURNAL   J Nutr Biochem 12 (8), 465-473 (2001)
   PUBMED   11834205
REFERENCE   8  (bases 1 to 3213)
  AUTHORS   Prasad,P.D., Wang,H., Huang,W., Fei,Y.J., Leibach,F.H., Devoe,L.D.
            and Ganapathy,V.
  TITLE     Molecular and functional characterization of the intestinal
            Na+-dependent multivitamin transporter
  JOURNAL   Arch Biochem Biophys 366 (1), 95-106 (1999)
   PUBMED   10334869
REFERENCE   9  (bases 1 to 3213)
  AUTHORS   Wang,H., Huang,W., Fei,Y.J., Xia,H., Yang-Feng,T.L., Leibach,F.H.,
            Devoe,L.D., Ganapathy,V. and Prasad,P.D.
  TITLE     Human placental Na+-dependent multivitamin transporter. Cloning,
            functional expression, gene structure, and chromosomal localization
  JOURNAL   J Biol Chem 274 (21), 14875-14883 (1999)
   PUBMED   10329687
REFERENCE   10 (bases 1 to 3213)
  AUTHORS   Prasad,P.D., Wang,H., Kekuda,R., Fujita,T., Fei,Y.J., Devoe,L.D.,
            Leibach,F.H. and Ganapathy,V.
  TITLE     Cloning and functional expression of a cDNA encoding a mammalian
            sodium-dependent vitamin transporter mediating the uptake of
            pantothenate, biotin, and lipoate
  JOURNAL   J Biol Chem 273 (13), 7501-7506 (1998)
   PUBMED   9516450
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC013403.9.
            
            On Aug 31, 2019 this sequence version replaced NM_021095.3.
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            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 :: AF069307.1, SRR14038197.2216298.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310574.8/ ENSP00000310208.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-249               AC013403.9         152720-152968       c
            250-316             AC013403.9         152167-152233       c
            317-849             AC013403.9         147958-148490       c
            850-915             AC013403.9         147577-147642       c
            916-967             AC013403.9         147183-147234       c
            968-1035            AC013403.9         146726-146793       c
            1036-1190           AC013403.9         146050-146204       c
            1191-1331           AC013403.9         145491-145631       c
            1332-1461           AC013403.9         145161-145290       c
            1462-1550           AC013403.9         144479-144567       c
            1551-1663           AC013403.9         143933-144045       c
            1664-1731           AC013403.9         143513-143580       c
            1732-1818           AC013403.9         142688-142774       c
            1819-2000           AC013403.9         142366-142547       c
            2001-2104           AC013403.9         142050-142153       c
            2105-2220           AC013403.9         141698-141813       c
            2221-3213           AC013403.9         140287-141279       c
FEATURES             Location/Qualifiers
     source          1..3213
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..3213
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /note="solute carrier family 5 member 6"
                     /db_xref="GeneID:8884"
                     /db_xref="HGNC:HGNC:11041"
                     /db_xref="MIM:604024"
     exon            1..249
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            250..316
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            317..849
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     CDS             457..2364
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /note="Na+-dependent multivitamin transporter;
                     Na(+)-dependent multivitamin transporter; solute carrier
                     family 5 (sodium-dependent vitamin transporter), member 6;
                     solute carrier family 5 (sodium/multivitamin and iodide
                     cotransporter), member 6"
                     /codon_start=1
                     /product="sodium-dependent multivitamin transporter"
                     /protein_id="NP_066918.2"
                     /db_xref="CCDS:CCDS1740.1"
                     /db_xref="GeneID:8884"
                     /db_xref="HGNC:HGNC:11041"
                     /db_xref="MIM:604024"
                     /translation="MSVGVSTSAPLSPTSGTSVGMSTFSIMDYVVFVLLLVLSLAIGL
                     YHACRGWGRHTVGELLMADRKMGCLPVALSLLATFQSAVAILGVPSEIYRFGTQYWFL
                     GCCYFLGLLIPAHIFIPVFYRLHLTSAYEYLELRFNKTVRVCGTVTFIFQMVIYMGVV
                     LYAPSLALNAVTGFDLWLSVLALGIVCTVYTALGGLKAVIWTDVFQTLVMFLGQLAVI
                     IVGSAKVGGLGRVWAVASQHGRISGFELDPDPFVRHTFWTLAFGGVFMMLSLYGVNQA
                     QVQRYLSSRTEKAAVLSCYAVFPFQQVSLCVGCLIGLVMFAYYQEYPMSIQQAQAAPD
                     QFVLYFVMDLLKGLPGLPGLFIACLFSGSLSTISSAFNSLATVTMEDLIRPWFPEFSE
                     ARAIMLSRGLAFGYGLLCLGMAYISSQMGPVLQAAISIFGMVGGPLLGLFCLGMFFPC
                     ANPPGAVVGLLAGLVMAFWIGIGSIVTSMGSSMPPSPSNGSSFSLPTNLTVATVTTLM
                     PLTTFSKPTGLQRFYSLSYLWYSAHNSTTVIVVGLIVSLLTGRMRGRSLNPATIYPVL
                     PKLLSLLPLSCQKRLHCRSYGQDHLDTGLFPEKPRNGVLGDSRDKEAMALDGTAYQGS
                     SSTCILQETSL"
     exon            850..915
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            916..967
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1035
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1190
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1331
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1461
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1550
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1663
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..1731
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..1818
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..2000
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2001..2104
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2220
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2221..3213
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3188..3193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /note="hexamer: AATAAA"
     polyA_site      3213
                     /gene="SLC5A6"
                     /gene_synonym="COMNB; hSMVT; NERIB; SMVT; SMVTD"
                     /note="major polyA site"
ORIGIN      
        1 ggtccagtcg ccctggggct gcttgggggc ttttcctgct cgtggagctc tgcgctggtc
       61 ttcatgcgcc ctagccctct ttcggggata ctggccgacc ccctcttcct tttccccttt
      121 agtgaaggcc tcccccgtcg ccgcgcggct tcccggagcc gactgcagac tccctcagcc
      181 cggtgttccc cgcgtccgga cgccgaggtc gcggcttcgc agaaactcgg gcccctccat
      241 ccgccctcag aaaagggagc gatgttgatc tcaggaagca caaagggacc ttcctagctc
      301 tgactgaacc acggagctca ccctggacag tatcactccg tggaggaaga ctgtgagact
      361 gtggctggaa gccagattgt agccacacat ccgcccctgc cctaccccag agccctggag
      421 cagcaactgg ctgcagatca cagacacagt gaggatatga gtgtaggggt gagcacctca
      481 gcccctcttt ccccaacctc gggcacaagc gtgggcatgt ctaccttctc catcatggac
      541 tatgtggtgt tcgtcctgct gctggttctc tctcttgcca ttgggctcta ccatgcttgt
      601 cgtggctggg gccggcatac tgttggtgag ctgctgatgg cggaccgcaa aatgggctgc
      661 cttccggtgg cactgtccct gctggccacc ttccagtcag ccgtggccat cctgggtgtg
      721 ccgtcagaga tctaccgatt tgggacccaa tattggttcc tgggctgctg ctactttctg
      781 gggctgctga tacctgcaca catcttcatc cccgttttct accgcctgca tctcaccagt
      841 gcctatgagt acctggagct tcgattcaat aaaactgtgc gagtgtgtgg aactgtgacc
      901 ttcatctttc agatggtgat ctacatggga gttgtgctct atgctccgtc attggctctc
      961 aatgcagtga ctggctttga tctgtggctg tccgtgctgg ccctgggcat tgtctgtacc
     1021 gtctatacag ctctgggtgg gctgaaggcc gtcatctgga cagatgtgtt ccagacactg
     1081 gtcatgttcc tcgggcagct ggcagttatc attgtggggt cagccaaggt gggcggcttg
     1141 gggcgtgtgt gggccgtggc ttcccagcac ggccgcatct ctgggtttga gctggatcca
     1201 gacccctttg tgcggcacac cttctggacc ttggccttcg ggggtgtctt catgatgctc
     1261 tccttatacg gggtgaacca ggctcaggtg cagcggtacc tcagttcccg cacggagaag
     1321 gctgctgtgc tctcctgtta tgcagtgttc cccttccagc aggtgtccct ctgcgtgggc
     1381 tgcctcattg gcctggtcat gttcgcgtat taccaggagt atcccatgag cattcagcag
     1441 gctcaggcag ccccagacca gttcgtcctg tactttgtga tggatctcct gaagggcctg
     1501 ccaggcctgc cagggctctt cattgcctgc ctcttcagcg gctctctcag cactatatcc
     1561 tctgctttta attcattggc aactgttacg atggaagacc tgattcgacc ttggttccct
     1621 gagttctctg aagcccgggc catcatgctt tccagaggcc ttgcctttgg ctatgggctg
     1681 ctttgtctag gaatggccta tatttcctcc cagatgggac ctgtgctgca ggcagcaatc
     1741 agcatctttg gcatggttgg gggaccgctg ctgggactct tctgccttgg aatgttcttt
     1801 ccatgtgcta accctcctgg tgctgttgtg ggcctgttgg ctgggctcgt catggccttc
     1861 tggattggca tcgggagcat cgtgaccagc atgggctcca gcatgccacc ctctccctct
     1921 aatgggtcca gcttctccct gcccaccaat ctaaccgttg ccactgtgac cacactgatg
     1981 cccttgacta ccttctccaa gcccacaggg ctgcagcggt tctattcctt gtcttactta
     2041 tggtacagtg ctcacaactc caccacagtg attgtggtgg gcctgattgt cagtctactc
     2101 actgggagaa tgcgaggccg gtccctgaac cctgcaacca tttacccagt gttgccaaag
     2161 ctcctgtccc tccttccgtt gtcctgtcag aagcggctcc actgcaggag ctacggccag
     2221 gaccacctcg acactggcct gtttcctgag aagccgagga atggtgtgct gggggacagc
     2281 agagacaagg aggccatggc cctggatggc acagcctatc aggggagcag ctccacctgc
     2341 atcctccagg agacctccct gtgatgttga ctcaggaccc cgcctctgtc ctcactgtgc
     2401 caggccatag ccagaggcca ccctgtagta cagggatgag tcttggtgtg ttctgcaggg
     2461 acaggcctgg atgatctagc tcataccaaa ggaccttgtt ctgagaggtt cttgcctgca
     2521 ggagaagctg tcacatctca agcatgtgag gcaccgtttt tctcgtcgct tgccaatctg
     2581 ttttttaaag gatcaggctc gtagggagca ggatcatgcc agaaataggg atggaagtgc
     2641 atcctctggg aaaaagataa tggcttctga ttcaacatag ccatagtcct ttgaagtaag
     2701 tggctagaaa cagcactctg gttataattg ccccagggcc tgattcagga ctgactctcc
     2761 accataaaac tggaagctgc ttcccctgta gtccccattt cagtaccagt tctgccagcc
     2821 acagtgagcc cctattatta ctttcagatt gtctgtgaca ctcaagcccc tctcattttt
     2881 atctgtctac ctccattctg aagagggagg ttttggtgtc cctggtcctc tgggaataga
     2941 agatccattt gtctttgtgt agagcaagca cgttttccac ctcactgtct ccatcctcca
     3001 cctctgagat ggacacttaa gagacggggc aaatgtggat ccaagaaacc agggccatga
     3061 ccgggtccac tgtggagcag ccatctatct acctgactcc tgagccaggc tgccgtggtg
     3121 tcatttctgt catccgtgct ctgtttcctt ttggagtttc ttctccacat tatctttgtt
     3181 cctggggaat aaaaactacc attggaccta gaa
//
