LOCUS       NM_006996               3612 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens solute carrier family 19 member 2 (SLC19A2),
            transcript variant 1, mRNA.
ACCESSION   NM_006996
VERSION     NM_006996.3
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 3612)
  AUTHORS   Mohsen-Pour,N., Naderi,N., Ghasemi,S., Hesami,M., Maleki,M. and
            Kalayinia,S.
  TITLE     Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in
            the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive
            Megaloblastic Anemia
  JOURNAL   Lab Med 53 (6), 640-650 (2022)
   PUBMED   35686496
  REMARK    GeneRIF: Whole-Exome Sequencing Revealed a Pathogenic Nonsense
            Variant in the SLC19A2 Gene in an Iranian Family with
            Thiamine-Responsive Megaloblastic Anemia.
REFERENCE   2  (bases 1 to 3612)
  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   3  (bases 1 to 3612)
  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   4  (bases 1 to 3612)
  AUTHORS   Enogieru,O.J., Koleske,M.L., Vora,B., Ngo,H., Yee,S.W., Chatad,D.,
            Sirota,M. and Giacomini,K.M.
  TITLE     The Effects of Genetic Mutations and Drugs on the Activity of the
            Thiamine Transporter, SLC19A2
  JOURNAL   AAPS J 23 (2), 35 (2021)
   PUBMED   33649974
  REMARK    GeneRIF: The Effects of Genetic Mutations and Drugs on the Activity
            of the Thiamine Transporter, SLC19A2.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3612)
  AUTHORS   Fleming,J.C., Tartaglini,E., Steinkamp,M.P., Schorderet,D.F.,
            Cohen,N. and Neufeld,E.J.
  TITLE     The gene mutated in thiamine-responsive anaemia with diabetes and
            deafness (TRMA) encodes a functional thiamine transporter
  JOURNAL   Nat Genet 22 (3), 305-308 (1999)
   PUBMED   10391222
REFERENCE   6  (bases 1 to 3612)
  AUTHORS   Labay,V., Raz,T., Baron,D., Mandel,H., Williams,H., Barrett,T.,
            Szargel,R., McDonald,L., Shalata,A., Nosaka,K., Gregory,S. and
            Cohen,N.
  TITLE     Mutations in SLC19A2 cause thiamine-responsive megaloblastic
            anaemia associated with diabetes mellitus and deafness
  JOURNAL   Nat Genet 22 (3), 300-304 (1999)
   PUBMED   10391221
REFERENCE   7  (bases 1 to 3612)
  AUTHORS   Neufeld,E.J., Mandel,H., Raz,T., Szargel,R., Yandava,C.N.,
            Stagg,A., Faure,S., Barrett,T., Buist,N. and Cohen,N.
  TITLE     Localization of the gene for thiamine-responsive megaloblastic
            anemia syndrome, on the long arm of chromosome 1, by homozygosity
            mapping
  JOURNAL   Am J Hum Genet 61 (6), 1335-1341 (1997)
   PUBMED   9399900
REFERENCE   8  (bases 1 to 3612)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   9  (bases 1 to 3612)
  AUTHORS   Sako,S., Tsunogai,T. and Oishi,K.
  TITLE     Thiamine-Responsive Megaloblastic Anemia Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301459
REFERENCE   10 (bases 1 to 3612)
  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 AF153330.1, AJ237724.1 and
            BU608154.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006996.2.
            
            Summary: This gene encodes the thiamin transporter protein.
            Mutations in this gene cause thiamin-responsive megaloblastic
            anemia syndrome (TRMA), which is an autosomal recessive disorder
            characterized by diabetes mellitus, megaloblastic anemia and
            sensorineural deafness. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Feb
            2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1660809.260958.1,
                                           SRR1660805.2376.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000236137.10/ ENSP00000236137.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               AF153330.1         60-227
            169-3592            AJ237724.1         1-3424
            3593-3612           BU608154.1         291-310
FEATURES             Location/Qualifiers
     source          1..3612
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..3612
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /note="solute carrier family 19 member 2"
                     /db_xref="GeneID:10560"
                     /db_xref="HGNC:HGNC:10938"
                     /db_xref="MIM:603941"
     exon            1..382
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..1672
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     reduced folate carrier protein (RFC) like; high affinity
                     thiamine transporter; thiamine transporter 1; thTr-1;
                     solute carrier family 19 (thiamine transporter), member 2;
                     thiamine-responsive megaloblastic anaemia"
                     /codon_start=1
                     /product="thiamine transporter 1 isoform 1"
                     /protein_id="NP_008927.1"
                     /db_xref="CCDS:CCDS1280.1"
                     /db_xref="GeneID:10560"
                     /db_xref="HGNC:HGNC:10938"
                     /db_xref="MIM:603941"
                     /translation="MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFA
                     SLRPSEPFLTPYLLGPDKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVL
                     LQGLSLIVTWFMLLYAQGLLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSY
                     CRSATLVGFTVGSVLGQILVSVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFH
                     HIPSTCQRVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRL
                     LVLKVLWNDFLMCYSSRPLLCWSVWWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNG
                     GVEAVSTLLGAVAVFAVGYIKISWSTWGEMTLSLFSLLIAAAVYIMDTVGNIWVCYAS
                     YVVFRIIYMLLITIATFQIAANLSMERYALVFGVNTFIALALQTLLTLIVVDASGLGL
                     EITTQFLIYASYFALIAVVFLASGAVSVMKKCRKLEDPQSSSQVTTS"
     exon            383..985
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1208
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..1401
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1543
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..3612
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3573..3578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /note="hexamer: AATAAA"
     polyA_site      3590
                     /gene="SLC19A2"
                     /gene_synonym="TC1; THMD1; THT1; THTR1; TRMA"
                     /note="major polyA site"
ORIGIN      
        1 agaggcgtct gtagggtaaa gctgggggtt ctgtagccgg aggcggcggc gagtccagaa
       61 cgtcctggcc ttacagggag aaggcgtcac tcgcggttac aagtgcctga ccctcactcc
      121 agttggcgga ggaggagaag gaaggggccg ggccgggtcc cctcccctcg cgccccggat
      181 ggatgtgccc ggcccggtgt ctcggcgggc ggcggcggcg gcggccactg tgctcctgcg
      241 gaccgctcgg gtccgtcgcg aatgctggtt cttgccgacc gcgctgctct gcgcctacgg
      301 cttcttcgcc agcctcaggc cgtccgagcc cttcctgacc ccgtacctgc tggggccgga
      361 caagaacctg accgagaggg aggtcttcaa tgaaatttat ccagtatgga cttactctta
      421 cctggtgcta ctgtttcctg tgttccttgc cacagactac ctccgttata aacctgttgt
      481 tctactgcag gggctcagcc ttattgttac atggtttatg ctgctctatg cccagggact
      541 gctggccatt caatttctag aattttttta tggcatcgcc acagccactg aaattgccta
      601 ttactcttat atctacagtg tggtggacct gggcatgtac cagaaagtca caagttactg
      661 tcgaagtgcc actttggtgg gctttacagt gggctctgtc ctagggcaaa tccttgtctc
      721 agtggcaggc tggtcgctgt tcagcctgaa tgtcatctct cttacctgtg tttcagtggc
      781 ttttgctgtg gcctggtttt tacctatgcc acagaagagc ctcttctttc accacattcc
      841 ttctacctgc cagagagtga atggcatcaa ggtacaaaat ggtggcattg ttactgacac
      901 cccagcttct aaccaccttc ctggctggga ggacattgag tcaaaaatcc ctctaaatat
      961 ggaggagcct cccgtggagg aaccggaacc caagccagac cgtctccttg tattgaaagt
     1021 actatggaat gatttcctga tgtgctactc ctctcgccct cttctctgct ggtctgtgtg
     1081 gtgggccctc tctacctgtg gctattttca agttgtgaac tacacacagg gcctgtggga
     1141 gaaagtgatg ccttctcgct atgctgctat ctataatggt ggcgtggagg ccgtttcaac
     1201 cttactgggt gctgttgctg tgtttgcagt tggttatata aaaatatcct ggtcaacttg
     1261 gggagaaatg acattatctc tcttttctct cctgattgct gctgcagtgt atatcatgga
     1321 cactgtgggt aacatttggg tgtgctatgc atcctatgtt gtcttcagaa tcatctacat
     1381 gttactcatc acgatagcaa cttttcaaat tgctgcaaac ctcagcatgg aacgctatgc
     1441 cctagtattt ggtgtaaata ccttcattgc cctggcactg cagacgctgc tcactctaat
     1501 tgtggtagat gccagtggcc ttggattaga aattaccact cagtttttga tctatgccag
     1561 ttattttgca ctcatcgctg tggttttcct ggccagtggt gcagtcagtg ttatgaagaa
     1621 atgtagaaag ctggaagatc cacaatcaag ttctcaagta accacttcat aatatactgc
     1681 tgaagggctt cttcttatag caagaactct gcacagcaac tgcctggatg tgtttgattt
     1741 tttaaagcgt agacatatat ttatgaatgt gcatttcttg acttcacagc agccacttga
     1801 ctaatacctt gtgttccggg aataacatga tactattcag aggagccaga agtaaagttt
     1861 atttcatgga ttatttatga gagctaattt aaggatgact ttttttctga ttcaaaagtg
     1921 aacttgattt taaaaaccag tcaagagcaa tcaaagcagc acatggtgtt gtatacttca
     1981 ttagcaagtg agtttggtgt tttataggtc acatatgtct gtatctactt agccagatgc
     2041 ttggcctggt gggaccaggg ctccacagag gccacaaaat gttgcaagtc atgatggatg
     2101 gaaatatgtt ctaacagcat ctgcctctat tcaatttaat tcttatttct gtgttactca
     2161 tgtacattgg tctttctaca tagttattct atcactggca atatttgttc tggtttagtg
     2221 ttctgtattt taaggtgtac gtatcatttc taattttaag ttattttaaa aaaattcatc
     2281 atatgaatgt tcttggttcc cattgtgacg attatttatt tctgtaaaat ttgtttagaa
     2341 gtacgttttt gcattattca tatgcttccc agagaagctc atttagttag aaaataaggc
     2401 aagttttgaa gcctgctaaa tgaagagact taagaaagct taaggtacgc ttgcttgtct
     2461 ttaaatcttc aatatgaagg actattaatt ccaagattaa aagttcatat ataggctaaa
     2521 gatgtaacta ggccatttgt atttgtattc ccttttattt ccaaaataaa atgaaaaatc
     2581 tttttttaat aatttcatcc ctatttatag tttttatatt aatttgtttt tcttatccaa
     2641 gtaaagatgt caataggaat tgcattagtc caaggccttt ttcataaact gagcctcttt
     2701 tcaattattt caatgggaca ggaactagga tagatgtgat tcctgcattt ttttacctta
     2761 aatctgcctt tgtttctaaa ggtagatcat cttgaatatt tgcttaaaat tgctagtgat
     2821 ttcattacca agttacttga aaaaatgttc tatatgcatt taattctgaa atcagtctac
     2881 caaggggctg ctagtatatg tcagacatga aaactatttt aaagctgact ttgttgcctt
     2941 atcttgaaaa gaatctagat aggtgctttt aactggggta ttaacttttt tagaatgaca
     3001 cagctgaaca gtgttaataa tagtgtgtca agattgcaaa gtcgacatac tcatttggtt
     3061 taagcaggaa tcctagaagc aaatggatgg ggataagaat aggtcatttt ctattcacca
     3121 tcctttacta ttaagggaaa ggaaaagaac actagctaag gaagggaaag ggaagtgata
     3181 tcataaaagt agcaaccttc attttacatt ctgtctgttt ttcttttttt gctttgtttt
     3241 gtttgtgcta atttgggaat tgtgtactcc gaaacaagta gaaaagtgct gtttgaggga
     3301 ttttattaaa tcttttttta atggaatgtg gtacaaattg ttcatgttac caaagcaata
     3361 tttccctgga atttaattca aagtttgtgg catacaacct gagccttttc ttatataaga
     3421 caagaatatg ttcacatctt ggtatgtggc catatttata gaatgctgaa ctcaatgtgc
     3481 aagttgtact gtatgcagtt ttgtaaataa gtgaaaataa tttgttgtac tttttattca
     3541 attctgtata gattataaaa ttatttttat taaataaata ttttacagta tattttctct
     3601 ttttaatcaa aa
//
