LOCUS       NM_194255               4991 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens solute carrier family 19 member 1 (SLC19A1),
            transcript variant 1, mRNA.
ACCESSION   NM_194255
VERSION     NM_194255.4
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 4991)
  AUTHORS   He,Q., Wang,F., O'Donnell,M.E. and Li,H.
  TITLE     Cryo-EM reveals a nearly complete PCNA loading process and unique
            features of the human alternative clamp loader CTF18-RFC
  JOURNAL   Proc Natl Acad Sci U S A 121 (18), e2319727121 (2024)
   PUBMED   38669181
  REMARK    GeneRIF: Cryo-EM reveals a nearly complete PCNA loading process and
            unique features of the human alternative clamp loader CTF18-RFC.
REFERENCE   2  (bases 1 to 4991)
  AUTHORS   Wang,X., Wang,Y., Ma,X., Zhou,S., Xu,J., Guo,Y., Liu,L., Liu,Y.,
            Gao,L. and Yuan,L.
  TITLE     Gender-specific association of SLC19A1 and MTHFR genetic
            polymorphism with oxidative stress biomarkers and plasma folate
            levels in older adults
  JOURNAL   Exp Gerontol 178, 112208 (2023)
   PUBMED   37201763
  REMARK    GeneRIF: Gender-specific association of SLC19A1 and MTHFR genetic
            polymorphism with oxidative stress biomarkers and plasma folate
            levels in older adults.
REFERENCE   3  (bases 1 to 4991)
  AUTHORS   Shiraishi,A., Uygun,V., Sharfe,N., Beldar,S., Sun,M.G.F., Dadi,H.,
            Vong,L., Maxson,M., Karaca,N.E., Mevlitoglu,S., Grinstein,S.,
            Artan,R., Merico,D. and Roifman,C.M.
  TITLE     Novel immunodeficiency caused by homozygous mutation in solute
            carrier family 19 member 1, which encodes the reduced folate
            carrier
  JOURNAL   Blood 141 (26), 3226-3230 (2023)
   PUBMED   36745868
REFERENCE   4  (bases 1 to 4991)
  AUTHORS   Huang,X., Hao,Q., Fang,Q., Zhang,P., Wei,H., Wang,Y., Wang,J. and
            Mi,Y.
  TITLE     Correlation between methylation level of the SLC19A1 promoter
            region and methotrexate metabolism in adult acute lymphoblastic
            leukemia
  JOURNAL   Pharmacogenomics 24 (5), 261-268 (2023)
   PUBMED   36999405
  REMARK    GeneRIF: Correlation between methylation level of the SLC19A1
            promoter region and methotrexate metabolism in adult acute
            lymphoblastic leukemia.
REFERENCE   5  (bases 1 to 4991)
  AUTHORS   Dang,Y., Zhou,D., Du,X., Zhao,H., Lee,C.H., Yang,J., Wang,Y.,
            Qin,C., Guo,Z. and Zhang,Z.
  TITLE     Molecular mechanism of substrate recognition by folate transporter
            SLC19A1
  JOURNAL   Cell Discov 8 (1), 141 (2022)
   PUBMED   36575193
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4991)
  AUTHORS   Moscow,J.A., Gong,M., He,R., Sgagias,M.K., Dixon,K.H., Anzick,S.L.,
            Meltzer,P.S. and Cowan,K.H.
  TITLE     Isolation of a gene encoding a human reduced folate carrier (RFC1)
            and analysis of its expression in transport-deficient,
            methotrexate-resistant human breast cancer cells
  JOURNAL   Cancer Res 55 (17), 3790-3794 (1995)
   PUBMED   7641195
REFERENCE   7  (bases 1 to 4991)
  AUTHORS   Wong,S.C., Proefke,S.A., Bhushan,A. and Matherly,L.H.
  TITLE     Isolation of human cDNAs that restore methotrexate sensitivity and
            reduced folate carrier activity in methotrexate transport-defective
            Chinese hamster ovary cells
  JOURNAL   J Biol Chem 270 (29), 17468-17475 (1995)
   PUBMED   7615551
REFERENCE   8  (bases 1 to 4991)
  AUTHORS   Yang-Feng,T.L., Ma,Y.Y., Liang,R., Prasad,P.D., Leibach,F.H. and
            Ganapathy,V.
  TITLE     Assignment of the human folate transporter gene to chromosome
            21q22.3 by somatic cell hybrid analysis and in situ hybridization
  JOURNAL   Biochem Biophys Res Commun 210 (3), 874-879 (1995)
   PUBMED   7763259
REFERENCE   9  (bases 1 to 4991)
  AUTHORS   Williams,F.M. and Flintoff,W.F.
  TITLE     Isolation of a human cDNA that complements a mutant hamster cell
            defective in methotrexate uptake
  JOURNAL   J Biol Chem 270 (7), 2987-2992 (1995)
   PUBMED   7852378
REFERENCE   10 (bases 1 to 4991)
  AUTHORS   Prasad,P.D., Ramamoorthy,S., Leibach,F.H. and Ganapathy,V.
  TITLE     Molecular cloning of the human placental folate transporter
  JOURNAL   Biochem Biophys Res Commun 206 (2), 681-687 (1995)
   PUBMED   7826387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK307623.1, AK313125.1,
            U19720.1, BX322561.1 and BC023005.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_194255.3.
            
            Summary: The membrane protein encoded by this gene is a transporter
            of folate and is involved in the regulation of intracellular
            concentrations of folate. Three transcript variants encoding
            different isoforms have been found for this gene.[provided by
            RefSeq, Mar 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.94945.1, U19720.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311124.9/ ENSP00000308895.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AK307623.1         32-36
            6-1898              AK313125.1         1-1893
            1899-2841           U19720.1           1872-2814
            2842-4818           BX322561.1         71820-73796         c
            4819-4989           BC023005.1         1293-1463
            4990-4991           BX322561.1         71647-71648         c
FEATURES             Location/Qualifiers
     source          1..4991
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..4991
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /note="solute carrier family 19 member 1"
                     /db_xref="GeneID:6573"
                     /db_xref="HGNC:HGNC:10937"
                     /db_xref="MIM:600424"
     exon            1..73
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            74..311
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..1898
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     folate transporter 1; reduced folate transporter 1;
                     placental folate transporter; reduced folate carrier
                     protein; solute carrier family 19 (folate transporter),
                     member 1; intestinal folate carrier 1; reduced folate
                     carrier 1; folate:anion antiporter SLC19A1; cyclic
                     dinucleotide:anion antiporter SLC19A1"
                     /codon_start=1
                     /product="reduced folate transporter isoform 1"
                     /protein_id="NP_919231.1"
                     /db_xref="CCDS:CCDS13725.1"
                     /db_xref="GeneID:6573"
                     /db_xref="HGNC:HGNC:10937"
                     /db_xref="MIM:600424"
                     /translation="MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPG
                     ESFITPYLLGPDKNFTREQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLS
                     FVSVWLLLLLGHSVAHMQLMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAV
                     LLGVFTSSVLGQLLVTVGRVSFSTLNYISLAFLTFSVVLALFLKRPKRSLFFNRDDRG
                     RCETSASELERMNPGPGGKLGHALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVF
                     NSAGYYLVVYYVHILWNEVDPTTNSARVYNGAADAASTLLGAITSFAAGFVKIRWARW
                     SKLLIAGVTATQAGLVFLLAHTRHPSSIWLCYAAFVLFRGSYQFLVPIATFQIASSLS
                     KELCALVFGVNTFFATIVKTIITFIVSDVRGLGLPVRKQFQLYSVYFLILSIIYFLGA
                     MLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKGLGGLQPAQSPPLSPEDSL
                     GAVGPASLEQRQSDPYLAQAPAPQAAEFLSPVTTPSPCTLCSAQASGPEAADETCPQL
                     AVHPPGVSKLGLQCLPSDGVQNVNQ"
     exon            312..1071
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1072..1273
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..1415
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..4991
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2822..2827
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2845
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /note="major polyA site"
     regulatory      3759..3764
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
                     /note="hexamer: GATAAA"
     polyA_site      3781
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
     polyA_site      4991
                     /gene="SLC19A1"
                     /gene_synonym="CHMD; FOLT; hRFC; hSLC19A1; IFC-1; IFC1;
                     IMD114; MEGAF; REFC; RFC; RFC1; RFT-1"
ORIGIN      
        1 gctgtagtcc cggagtccgc gtgcgcgggg ccgggtccgg gagccccagg gcagccgccc
       61 cgccgagtcg caggcacagc gtcaccttcg tcccctccgg agctgcacgt ggcctgagca
      121 ggatggtgcc ctccagccca gcggtggaga agcaggtgcc cgtggaacct gggcctgacc
      181 ccgagctccg gtcctggcgg cacctcgtgt gctacctttg cttctacggc ttcatggcgc
      241 agatacggcc aggggagagc ttcatcaccc cctacctcct ggggcccgac aagaacttca
      301 cgcgggagca ggtcacgaac gagatcacgc cggtgctgtc gtactcctac ctggccgtgc
      361 tggtgcccgt gttcctgctc accgactacc tgcgctacac gccggtgctg ctgctgcagg
      421 ggctcagctt cgtgtcggtg tggctgctgc tgctgctggg ccactcggtg gcgcacatgc
      481 agctcatgga gctcttctac agcgtcacca tggccgcgcg catcgcctat tcctcctaca
      541 tcttctctct cgtgcggccc gcgcgctacc agcgtgtggc cggctactcg cgcgctgcgg
      601 tgctgctggg cgtgttcacc agctccgtgc tgggccagct gctggtcact gtgggccgag
      661 tctccttctc cacgctcaac tacatctcgc tggccttcct caccttcagc gtggtcctcg
      721 ccctcttcct gaagcgcccc aagcgcagcc tcttcttcaa ccgcgacgac cgggggcggt
      781 gcgaaacctc ggcttcggag ctggagcgca tgaatcctgg cccaggcggg aagctgggac
      841 acgccctgcg ggtggcctgt ggggactcag tgctggcgcg gatgctgcgg gagctggggg
      901 acagcctgcg gcggccgcag ctgcgcctgt ggtccctctg gtgggtcttc aactcggccg
      961 gctactacct ggtggtctac tacgtgcaca tcctgtggaa cgaggtggac cccaccacca
     1021 acagtgcgcg ggtctacaac ggcgcggcag atgctgcctc cacgctgctg ggcgccatca
     1081 cgtccttcgc cgcgggcttc gtgaagatcc gctgggcgcg ctggtccaag ctgctcatcg
     1141 cgggcgtcac ggccacgcag gcggggctgg tcttccttct ggcgcacacg cgccacccga
     1201 gcagcatctg gctgtgctat gcggccttcg tgctgttccg cggctcctac cagttcctcg
     1261 tgcccatcgc cacctttcag attgcatctt ctctgtctaa agagctctgt gccctggtct
     1321 tcggggtcaa cacgttcttt gccaccatcg tcaagaccat catcactttc attgtctcgg
     1381 acgtgcgggg cctgggcctc ccggtccgca agcagttcca gttatactcc gtgtacttcc
     1441 tgatcctgtc catcatctac ttcttggggg ccatgctgga tggcctgcgg cactgccagc
     1501 ggggccacca cccgcggcag cccccggccc agggcctgag gagtgccgcg gaggagaagg
     1561 cagcacaggc actgagcgtg caggacaagg gcctcggagg cctgcagcca gcccagagcc
     1621 cgccgctttc cccagaagac agcctggggg ctgtggggcc agcctccctg gagcagagac
     1681 agagcgaccc atacctggcc caggccccgg ccccgcaggc agctgaattc ctgagcccag
     1741 tgacaacccc ttccccctgc actctgtgct ccgcccaagc ctcaggccct gaggctgcag
     1801 atgagacttg tccccagctg gctgtccatc ctcctggtgt cagcaagctg ggtttgcagt
     1861 gtcttccaag cgacggtgtt cagaatgtga accagtgact ctcgggcgcc cctgtggtaa
     1921 ctttgcaggc ggccctcagt gcatccccac gacccctgcc tcgagggccg cctgccttag
     1981 caatgggggc ctccgcttat cctgctagca ggccccctag gattccccct gccctgtgcc
     2041 gcactctggc ggtggccaca gcgtgctggc gacactcagg gcagctgcct ggccatgctg
     2101 tccctgcact gtgccccgcg ggctttgttg ctggaagagg tgggtggtgg gcttctgcgt
     2161 ccaccaggcc tcactggctc atgccccttg gggggcttga gacaaatcct ttctgccccc
     2221 cagggctagt gaagtggcct cttggatacc agctcagggg acactggccc cacaggagtt
     2281 gtgagccctc tagggcaggg tgggagccgg gaccctcagg tgtagctgag ctgtgacatt
     2341 gctggtcatc cttggtgctc ttgctttttt gaaagatgct tttttttttt ttaactgacg
     2401 tagaatgaag aactgcatgt ggcttctctg tctctgtgga aaagccatct caggttggcg
     2461 gcagacacat tgtcatcaga ggggagcagc ggctctggtc ctcggagctg gttcctctct
     2521 cccaccctaa gggcagccct ccatggtcct gtctgtcctt ctgaagtgtg tccatcctga
     2581 cctgcgggtc ctcagctgct cccacacttg tgccagcccg gaggggactg gtcccggtca
     2641 ccgcggacgt gctggccttg gtatgtgcca ggcttgcctg ggctgggcag ccttgggggg
     2701 gctgcctttg tggtgggcgc tggggaagta cgtcccagcg gcctcagggt ctaaggagcg
     2761 ctagtgcctt gcccacaggt gcgggaccat ctgatgtgat gtgaatactc ttcccacata
     2821 cattaaacac acttaagtga gtgtgcgcag ggcttctgat tcagggccgg cctggcctgg
     2881 gggttgaggg tcagcagtca gtgaggaggc caggagaggc gtcccagcct tctcccgcct
     2941 ccagcccacg cagggccttg gtgcccatga gctgagcacc cccacaaccc tagtcaacgg
     3001 ccctatcctg tggggcctct gccacatctc agcggcccca ggtgaatggc tggctgctca
     3061 gcacggagag ctggggagag aatctctggc tggggagggg ctgctggagc tgctggaccc
     3121 aggggtctcc cgaggtggct caggggagca ggcatcttgg ggtaccctgg gttgaggcag
     3181 aggctgcacg tggaagatgg cccgagtcag tggatggtgc cagtcagaca gggccatggt
     3241 cccaggtgca tccaggggct ctgtcatggc caccctgggg accctgcttg ggggggggtc
     3301 tgcaccagcc atttcctggg ctcgtagatc tagcaggatg tgatgggtgg aggtgggctg
     3361 ggcctgtgcc atgggctaga gcgtcactgg ggaggcccac accgccatca gaatcctcct
     3421 cccagcgcct ccccaacctg agggcctgct ccctccgcag cctgctcact gcacccactg
     3481 cctgcctgcc tctgagtcct gcactcaccc gtccaccagg acagggatgg ctgtcaggat
     3541 gtagtgttgc tgggagcaag tcaggtcctg ctgtgaggag agacctaaga gtgttggtgt
     3601 gtgtccacac acccgtgcat gcctgtgtac ctgtgcacac tatggatgct cctgcacacc
     3661 tgtgtacaac tgcacgcctg tgtatggcca tgcatgcata ccccatgtaa ccgtgcgtgc
     3721 ctgtgcacac tcgggatctg ccagtggggc agtccaggga taaaagactc ctgagaactc
     3781 cttttggaga attgtgtcct tcctgtgaca gtgaaggctg cttgcaaacc aagagtcagt
     3841 gtaaaaggtc acttttattt gcctgtctga attggcttca catcacacac aattacagaa
     3901 ccagccccac cggtttcgtc gcagtcctga ggcaggtgcg tgttggctgt gctgtggtca
     3961 gcctggcgct gccctgagtc cacttgtccc tccacagaac gaatgactcg ggttgatgtt
     4021 gccggatctc aggggtggct gtgactgaca gaggaccttg ttgcacctcg tggctgcttt
     4081 gttcacccgc agggcggcct gtgggcaccc cggggttccc cttcagtccc aaggagggta
     4141 aggatatggg tttcctagga gacagccaat gactgccctg catctggagc cagcctgtcc
     4201 atgggcagtg cacagatgac agccctccct cactgccctg tgtgctggct accgcatgtc
     4261 ctgtgccagc ctcagcctct ttgatgtggc cgtgttccat cctggcgctc agctggacaa
     4321 gtgctggctg agccacgtcc cagccagggg catgagatgg gggccctgga tgggaggctg
     4381 ccagacccca actcatgggt cccttgaatc tcccagcttg gactcggcca gggtggagct
     4441 gtctgctttg gatgtatcat ctcatggctc atttgggagg ccagccccag gctgctgtgc
     4501 ttggtgttgg aggacaggcc ggagctgggg gtcacagtgc gcctctgagc ttgggaacct
     4561 gcttcagcct ggggttgctg tggagaatgg cccagagctg agcagaaggg gctcccccta
     4621 gccccaggga cctgagcctc cctcccatct accgcagggc gagcacacac cctggaggag
     4681 cccagatggc cttgtgctga gtgtggcctc agctcccatt gcctcacggg gcctgtctgc
     4741 taacaggtct gggttttgtg cacagaacgg tgctgctagg tgggagatga agtcagcacc
     4801 tgctggggcg agcacggctt cccaaagcag gaaatcctgg agaaatcgag ccgtggtctg
     4861 atcaggccaa gaggttgcac agggcatgat actgcaccct gcctgaccca gctgggctca
     4921 caggtcaggg gagagttggg gcaggtgaat gtcagcatca ggcttctgtt ttaaactttt
     4981 aaaaaaatac a
//
