LOCUS       NM_025243               5213 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens solute carrier family 19 member 3 (SLC19A3),
            transcript variant 1, mRNA.
ACCESSION   NM_025243
VERSION     NM_025243.4
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 5213)
  AUTHORS   Gabriel,F., Spriestersbach,L., Fuhrmann,A., Jungnickel,K.E.J.,
            Mostafavi,S., Pardon,E., Steyaert,J. and Low,C.
  TITLE     Structural basis of thiamine transport and drug recognition by
            SLC19A3
  JOURNAL   Nat Commun 15 (1), 8542 (2024)
   PUBMED   39358356
  REMARK    GeneRIF: Structural basis of thiamine transport and drug
            recognition by SLC19A3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5213)
  AUTHORS   Akino,S., Yasujima,T., Yamashiro,T. and Yuasa,H.
  TITLE     Disrupted in renal carcinoma 2 (DIRC2/SLC49A4) is an H+-driven
            lysosomal pyridoxine exporter
  JOURNAL   Life Sci Alliance 6 (2), e202201629 (2022)
   PUBMED   36456177
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5213)
  AUTHORS   Miyake,K., Yasujima,T., Takahashi,S., Yamashiro,T. and Yuasa,H.
  TITLE     Identification of the amino acid residues involved in the
            species-dependent differences in the pyridoxine transport function
            of SLC19A3
  JOURNAL   J Biol Chem 298 (8), 102161 (2022)
   PUBMED   35724964
REFERENCE   4  (bases 1 to 5213)
  AUTHORS   Yamashiro,T., Yasujima,T. and Yuasa,H.
  TITLE     Animal species differences in the pyridoxine transport function of
            SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat
            small intestine
  JOURNAL   Drug Metab Pharmacokinet 44, 100456 (2022)
   PUBMED   35512554
REFERENCE   5  (bases 1 to 5213)
  AUTHORS   Liu,S., Huang,H., Lu,X., Golinski,M., Comesse,S., Watt,D.,
            Grossman,R.B. and Moscow,J.A.
  TITLE     Down-regulation of thiamine transporter THTR2 gene expression in
            breast cancer and its association with resistance to apoptosis
  JOURNAL   Mol Cancer Res 1 (9), 665-673 (2003)
   PUBMED   12861052
  REMARK    GeneRIF: thiamine transporter THTR2 gene expression is
            down-regulated in breast cancer
REFERENCE   6  (bases 1 to 5213)
  AUTHORS   Rajgopal,A., Edmondnson,A., Goldman,I.D. and Zhao,R.
  TITLE     SLC19A3 encodes a second thiamine transporter ThTr2
  JOURNAL   Biochim Biophys Acta 1537 (3), 175-178 (2001)
   PUBMED   11731220
REFERENCE   7  (bases 1 to 5213)
  AUTHORS   Eudy,J.D., Spiegelstein,O., Barber,R.C., Wlodarczyk,B.J., Talbot,J.
            and Finnell,R.H.
  TITLE     Identification and characterization of the human and mouse SLC19A3
            gene: a novel member of the reduced folate family of micronutrient
            transporter genes
  JOURNAL   Mol Genet Metab 71 (4), 581-590 (2000)
   PUBMED   11136550
REFERENCE   8  (bases 1 to 5213)
  AUTHORS   Tabarki,B., Al-Hashem,A., Ortigoza-Escobar,J.D., Alsharhan,H. and
            Alfadhel,M.
  TITLE     Biotin-Thiamine-Responsive Basal Ganglia Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24260777
REFERENCE   9  (bases 1 to 5213)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   10 (bases 1 to 5213)
  AUTHORS   Haas,R.H.
  TITLE     Thiamin and the brain
  JOURNAL   Annu Rev Nutr 8, 483-515 (1988)
   PUBMED   3060175
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093762.3, AC064853.6,
            AF271633.1 and AI056985.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025243.3.
            
            Summary: This gene encodes a ubiquitously expressed transmembrane
            thiamine transporter that lacks folate transport activity.
            Mutations in this gene cause biotin-responsive basal ganglia
            disease (BBGD); a recessive disorder manifested in childhood that
            progresses to chronic encephalopathy, dystonia, quadriparesis, and
            death if untreated. Patients with BBGD have bilateral necrosis in
            the head of the caudate nucleus and in the putamen. Administration
            of high doses of biotin in the early progression of the disorder
            eliminates pathological symptoms while delayed treatment results in
            residual paraparesis, mild cognitive disability, or dystonia.
            Administration of thiamine is ineffective in the treatment of this
            disorder. Experiments have failed to show that this protein can
            transport biotin. Mutations in this gene also cause a
            Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010].
            
            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 :: SRR11853565.17738.1,
                                           SRR11853564.16737.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644224.2/ ENSP00000495385.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AC093762.3         1-16                c
            17-49               AC064853.6         135215-135247       c
            50-1705             AF271633.1         5-1660
            1706-3688           AC064853.6         102523-104505       c
            3689-3766           AI056985.1         9-86                c
            3767-5213           AC064853.6         100998-102444       c
FEATURES             Location/Qualifiers
     source          1..5213
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     gene            1..5213
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /note="solute carrier family 19 member 3"
                     /db_xref="GeneID:80704"
                     /db_xref="HGNC:HGNC:16266"
                     /db_xref="MIM:606152"
     exon            1..86
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /inference="alignment:Splign:2.1.0"
     exon            87..238
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1579
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     thiamine transporter 2; solute carrier family 19 (thiamine
                     transporter), member 3"
                     /codon_start=1
                     /product="thiamine transporter 2 isoform 1"
                     /protein_id="NP_079519.1"
                     /db_xref="CCDS:CCDS2468.1"
                     /db_xref="GeneID:80704"
                     /db_xref="HGNC:HGNC:16266"
                     /db_xref="MIM:606152"
                     /translation="MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDK
                     NLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYKPVIILQGISFIITWLLLLFGQG
                     VKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQL
                     LVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLE
                     ETHEGEAPGCEEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSK
                     RLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAV
                     GYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVF
                     QIAVNLNVERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIA
                     GIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHPEEESNIIMSTKL"
     exon            239..1067
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1260
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1402
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..5213
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3098..3103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /note="hexamer: AATAAA"
     polyA_site      3121
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
     regulatory      3742..3747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /note="hexamer: ATTAAA"
     polyA_site      3766
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /note="major polyA site"
     regulatory      5189..5194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
                     /note="hexamer: AATAAA"
     polyA_site      5213
                     /gene="SLC19A3"
                     /gene_synonym="BBGD; hTHTR2; THMD2; thTr-2; THTR2"
ORIGIN      
        1 aagagcgcct ggatccatcc gacagccgcg ggtgcgtggt cgtgcggcaa gtgagcgatt
       61 tggtgaacag acactccctt ctgtagccat ggattgttac agaacttcac taagcagttc
      121 ctggatttac cccactgtga tcctctgctt atttggtttt ttctccatga tgagaccctc
      181 agaaccattc cttatcccat atttatctgg accagataaa aacctgacca gtgcagagat
      241 aacaaatgag atcttccccg tttggacata ctcctacctg gtgctgctgc tgcctgtgtt
      301 tgtcctcacc gattatgtcc gctacaagcc agtcatcatc ttgcaaggta tcagtttcat
      361 cattacctgg ctgctgctgt tgtttggcca aggagtgaag accatgcagg ttgtagagtt
      421 cttctatggg atggtcaccg ccgccgaggt ggcctactac gcctacatat acagcgtggt
      481 cagccccgag cactaccaga gagtgagcgg ctactgcagg agcgtcacgc tggccgccta
      541 cacagcaggg tcggtgctgg ctcaactctt ggtatccctg gcgaacatgt cgtactttta
      601 cctcaacgtc atatccttgg cctctgtctc cgtggctttc cttttctcac ttttcctacc
      661 aatgcccaag aaaagcatgt tttttcatgc aaaacccagc agagaaataa agaagtcatc
      721 aagcgtgaat ccagtattag aggaaactca cgaaggtgaa gcaccaggct gtgaagagca
      781 gaaacccaca tcagaaatac tcagcacttc agggaagctg aataagggcc agctgaacag
      841 cctgaaacca agcaatgtga ctgtggacgt ttttgtgcag tggttccaag atttgaagga
      901 gtgctactcc tcaaaacgtc ttttctactg gtctctatgg tgggctttcg ccacagcagg
      961 ttttaaccag gttttgaact atgttcaaat cctgtgggat tacaaggcgc catcccaaga
     1021 ttcttccatc tataatgggg ccgtagaagc tattgcaacc tttggagggg ctgtggctgc
     1081 ctttgcagtg ggttatgtga aagtcaactg ggaccttctg ggagagctgg ctctggtggt
     1141 cttctcagtt gtcaatgccg gttctttatt tctcatgcat tacacagcca atatctgggc
     1201 gtgctatgct ggctatttga tattcaagtc cagctatatg cttcttataa ccatagcagt
     1261 atttcagatt gcagttaatc tgaatgtgga acgctatgcc ttggtatttg gaatcaacac
     1321 ctttattgcc ttggtgattc agaccatcat gactgtgatt gtagtagatc agagagggct
     1381 caacttgcca gtcagcattc agtttttagt ttatgggagc tattttgcag taattgctgg
     1441 aattttccta atgagaagca tgtatattac ctactcaacc aaatcccaga aggatgtaca
     1501 gagccctgct ccaagtgaga atccagatgt gtctcaccca gaggaagaga gtaatatcat
     1561 catgtcaaca aaactctaac ctcatcgcaa caaacgcaac agtggctttc aaagttatgc
     1621 aataataagg aaagattttg agatgggtgg catatgtttt gccataactt gacatgcttt
     1681 gcaaatctgg attccaatgg acctttcaaa accacaacaa aacctcagtt ttagatgagt
     1741 tctctatgtg accaatttta ctggatgcaa ttgacaggac ccgtcatcat aattaaacaa
     1801 cccatattgg ggaccccctg tgactagtag cagctggaaa attctggttt ttatcacttg
     1861 taaagacatg cagatggcgt ggaaccaaac catgagaaaa ctccagccat cctggagttg
     1921 atattcacca tttgtgagga gaaatactaa ctggactgac cctattgcta ggcttaaata
     1981 cttatttgat cttaccaaag aagtcaacac atgggacctt tgtgtcacat gaaccatttt
     2041 ctttcctctt ctattaagtg tatttctgtt taagttacag ttctctaaga gaattacaat
     2101 gtttgtccca tttctaaggg cttctcttca actctaataa cagcattatt cacgttatga
     2161 tttgatagta ttattattta atttttttat gattattttc cattttgtgc tctgagtttt
     2221 gctgttgaaa gtctccctca agaatagctt cagatcctct tgtgtatttg cagaatacac
     2281 aaggtcattt cccagtggcc tgggagaggc agtgagcctt ctctccacca ccatagacag
     2341 gtgttaatgc atctatgggc caggtgcagt ggctcactcc tgtaatccga gcaatttggg
     2401 aggccaaggt gggagttttg cttgaggcca gaggttcaag accagcctgg gcaacacagt
     2461 gacacctgac tctactaaaa aattaaaaaa ttagctgggc agcgtggtgt gtgcctgtag
     2521 tctcagctac ttgggaggcc atggtgggag gatgggttga gcacaggagt cagaggctac
     2581 agtgagctat gattgcacca ttgcactcca gcctgggcaa cagagtaaga ctctcatccc
     2641 cctcctccca aaaaagagca cctgtgtggt gtctgtctaa aataggaaaa cttaaaggag
     2701 gtttctagaa gtattagaaa taagaaaaca ctgatggggg gagtggaata aaacacctga
     2761 ttttgttttg ttttggtttt tgagacagtc tcgctctctc acccaggctg gaatgcaatg
     2821 gcgtgatctt ggctcactgc aaacttcacc tcctgagttc aagccattct cctacctcag
     2881 cctcccaagt agctgggact atgggtgcac accaccacgc ctggctaatt tttgtatttt
     2941 tagtggagat ggggtttcac aatgttggcc aggctggtct caaactcctg acttcaggtg
     3001 atctgtctgc ctcggcctcc caaagagctg agattacagg cgtgagccac catgcctggc
     3061 caaaacacct gatttttaaa tggtagcaat tgtgctaaat aaaatgtgta aaaattttaa
     3121 agagttgtta acattttttg atgaattctg ctgaaaatta tctgaacata cctgtttttc
     3181 gaaacttcaa gaaacttcaa taagggatgc attgagcagt ctgacagtga gaataaagaa
     3241 tgctgagtca agatttatat taaggctgga agctgtggct cacacctgta atcccagcat
     3301 tttgggaggc tgaagtgaga ggttaatttg agggtagggg tatgagacca tcttggccaa
     3361 tatagcaaga ccctgtgtct aaaacaaaca aaaaaatttt taattggatt ttgatatggt
     3421 ttggatctgt gtccccacca aatctcacgt tgaagtgtaa tccccaatgt tagaggtggg
     3481 gccggctggg aggcgactgg atcatgggtg tgaagccttc atgaatggtt tggcaccgtc
     3541 ccctcagtgc tggtctcatg acagtgagtt atcgtgagat ctggtagttt aaaagtgtgt
     3601 agcacctccc cactctctct ttctcctgct ttggccacgt gaagatgcct gctcccactt
     3661 tgccttctgc catgagtaaa aattccccga ggactcccta gaagcagatg ttgccacgct
     3721 tcctatatag cctgtgagct aattaaaccc cttttcttac aaactatcta gtctcaggtg
     3781 tttctttata gcaatgtgat aatggactaa tatgtttctc aagtatactc ctctccaaat
     3841 cccgaaattc ttcactggac taagatccag cccaagaatc aatgcactca cttagtggag
     3901 aaaactaata acattcctac ttacattaaa ggcaaggaag gaatggccgc tattcttttt
     3961 cttcttcttc tttttttttt tttttttttt tttttgatag aatcttgctc tgtcacccag
     4021 gctggagtgc aatgacgcaa tgtcagctca ctgcaacctc cgcctcccgg gttcaagcaa
     4081 ttctcctgcc tcagcctccc gagtagctgg gattacaggc gtgcaccacc atgcccggct
     4141 gatttttgta tatttagtag agacggggtt tcaccatgtt ggtcaggctg gtttcaaact
     4201 cctggtctca ggtgatccgc ccgtctcggt ctcccaaagt gttgggatta caggcttcag
     4261 ccacctcaca cccagtctat tatccttctt ttttaactta ttattctgga ggcattaggc
     4321 atcacaatta gacaaacaag aaaaatcaga ggtcagaaat tggaaaggag gccaggtgca
     4381 gtggctcacg cctgtaatcc caacactttg ggaggctgag gcggtcagat cacatgaggc
     4441 caggaattgg aggcaagcct gggcaacatg atgaaaccct gtatgtacta aaaacaacaa
     4501 aattagccgg gtgtggtcca tgcctgtaat cccagccact cggtggctga agcataagag
     4561 tcacttaaac ccaggaggca gaggttgcag tgagttgaga ttgtgccact gcactccagc
     4621 ctgagcgaca gagtgagacc caaagtggat taaaaaatgc attatgattc cttcacatat
     4681 tcacctataa caaaattaac tgctaaaaaa tgaggaagat ctttagtgac acagaactct
     4741 aagagctcta ctatcaagtg gaaaaaagtc aagcaccaaa ataataatga acgcagcaac
     4801 tcagcatttg tataaaaagg acaaaaatat ctgtattggc ttatatatgc gtataacttt
     4861 tctaaaaaga caaatgaggc ctggcacggt ggctcatgcc tgtaatcctg gcactttggg
     4921 aggctgaggt aggtggattg cttgagttca ggagttcaaa accagcctag gcaacatggc
     4981 aaaaccctgt ctctacaaaa aatacaaaaa ttagctgggc atggtggctt gcacctggac
     5041 tcccagctac ttgaggggat gagaagggag gatcgcttga gcccaggagg tggaggttgc
     5101 agtgagctga gatcatgcca ctgcactcca gccctgatga cagagtgaga ccctgtcttg
     5161 aacaaacaaa ccaacaatca aacaaataaa taaacaactg aaactcatac caa
//
