LOCUS       NM_022508               3333 bp    mRNA    linear   ROD 31-MAR-2024
DEFINITION  Rattus norvegicus methylenetetrahydrofolate dehydrogenase,
            cyclohydrolase and formyltetrahydrofolate synthetase 1 (Mthfd1),
            mRNA.
ACCESSION   NM_022508
VERSION     NM_022508.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 3333)
  AUTHORS   Burda,P., Kuster,A., Hjalmarson,O., Suormala,T., Burer,C., Lutz,S.,
            Roussey,G., Christa,L., Asin-Cayuela,J., Kollberg,G.,
            Andersson,B.A., Watkins,D., Rosenblatt,D.S., Fowler,B., Holme,E.,
            Froese,D.S. and Baumgartner,M.R.
  TITLE     Characterization and review of MTHFD1 deficiency: four new
            patients, cellular delineation and response to folic and folinic
            acid treatment
  JOURNAL   J Inherit Metab Dis 38 (5), 863-872 (2015)
   PUBMED   25633902
  REMARK    Review article
REFERENCE   2  (bases 1 to 3333)
  AUTHORS   Izci Ay,O., Ay,M.E., Erdal,M.E., Cayan,F., Tekin,S., Soylemez,F.,
            Sungur,M.A. and Derici Yildirim,D.
  TITLE     Folate metabolism gene polymorphisms and risk for down syndrome
            offspring in Turkish women
  JOURNAL   Genet Test Mol Biomarkers 19 (4), 191-197 (2015)
   PUBMED   25671679
REFERENCE   3  (bases 1 to 3333)
  AUTHORS   Meng,J., Han,L. and Zhuang,B.
  TITLE     Association between MTHFD1 polymorphisms and neural tube defect
            susceptibility
  JOURNAL   J Neurol Sci 348 (1-2), 188-194 (2015)
   PUBMED   25524527
REFERENCE   4  (bases 1 to 3333)
  AUTHORS   Murthy,J., Gurramkonda,V.B. and Lakkakula,B.V.
  TITLE     Significant association of MTHFD1 1958G>A single nucleotide
            polymorphism with nonsyndromic cleft lip and palate in Indian
            population
  JOURNAL   Med Oral Patol Oral Cir Bucal 19 (6), e616-e621 (2014)
   PUBMED   25129243
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3333)
  AUTHORS   Lorenc,A., Seremak-Mrozikiewicz,A., Barlik,M., Wolski,H. and
            Drews,K.
  TITLE     The role of 401a>G polymorphism of methylenetetrahydrofolate
            dehydrogenase gene (MTHFD1) in fetal hypotrophy
  JOURNAL   Ginekol Pol 85 (7), 494-499 (2014)
   PUBMED   25118499
REFERENCE   6  (bases 1 to 3333)
  AUTHORS   Howard,K.M., Muga,S.J., Zhang,L., Thigpen,A.E. and Appling,D.R.
  TITLE     Characterization of the rat cytoplasmic C1-tetrahydrofolate
            synthase gene and analysis of its expression in liver regeneration
            and fetal development
  JOURNAL   Gene 319, 85-97 (2003)
   PUBMED   14597174
  REMARK    GeneRIF: Gene encodes the cytoplasmic isozyme of
            C1-tetrahydrofolate (THF) synthase, a trifunctional enzyme
            containing formyl-THF synthetase, methenyl-THF cyclohydrolase, and
            methylene-THF dehydrogenase activities (EC Numbers:  1.5.1.5,
            3.5.4.9, 6.3.4.3).
REFERENCE   7  (bases 1 to 3333)
  AUTHORS   Hol,F.A., van der Put,N.M., Geurds,M.P., Heil,S.G., Trijbels,F.J.,
            Hamel,B.C., Mariman,E.C. and Blom,H.J.
  TITLE     Molecular genetic analysis of the gene encoding the trifunctional
            enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase,
            methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate
            synthetase) in patients with neural tube defects
  JOURNAL   Clin Genet 53 (2), 119-125 (1998)
   PUBMED   9611072
REFERENCE   8  (bases 1 to 3333)
  AUTHORS   Hum,D.W. and MacKenzie,R.E.
  TITLE     Expression of active domains of a human folate-dependent
            trifunctional enzyme in Escherichia coli
  JOURNAL   Protein Eng 4 (4), 493-500 (1991)
   PUBMED   1881876
REFERENCE   9  (bases 1 to 3333)
  AUTHORS   Thigpen,A.E., West,M.G. and Appling,D.R.
  TITLE     Rat C1-tetrahydrofolate synthase. cDNA isolation, tissue-specific
            levels of the mRNA, and expression of the protein in yeast
  JOURNAL   J Biol Chem 265 (14), 7907-7913 (1990)
   PUBMED   2186031
REFERENCE   10 (bases 1 to 3333)
  AUTHORS   Barlowe,C.K. and Appling,D.R.
  TITLE     Nitrous oxide exposure reduces hepatic C1-tetrahydrofolate synthase
            expression in rats
  JOURNAL   Biochem Biophys Res Commun 157 (1), 245-249 (1988)
   PUBMED   3264158
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from
            JAXUCZ010000006.1.
            
            On Nov 26, 2020 this sequence version replaced NM_022508.1.
            
            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 :: J05519.1, BC089800.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760383, SAMEA5760386
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-348               JAXUCZ010000006.1  100713510-100713857
            349-433             JAXUCZ010000006.1  100728583-100728667
            434-493             JAXUCZ010000006.1  100737482-100737541
            494-547             JAXUCZ010000006.1  100738211-100738264
            548-684             JAXUCZ010000006.1  100738429-100738565
            685-785             JAXUCZ010000006.1  100738680-100738780
            786-922             JAXUCZ010000006.1  100741333-100741469
            923-1034            JAXUCZ010000006.1  100742427-100742538
            1035-1162           JAXUCZ010000006.1  100747406-100747533
            1163-1260           JAXUCZ010000006.1  100747930-100748027
            1261-1434           JAXUCZ010000006.1  100748225-100748398
            1435-1571           JAXUCZ010000006.1  100749634-100749770
            1572-1618           JAXUCZ010000006.1  100752054-100752100
            1619-1726           JAXUCZ010000006.1  100752778-100752885
            1727-1801           JAXUCZ010000006.1  100753048-100753122
            1802-1904           JAXUCZ010000006.1  100756648-100756750
            1905-1981           JAXUCZ010000006.1  100759846-100759922
            1982-2122           JAXUCZ010000006.1  100760693-100760833
            2123-2191           JAXUCZ010000006.1  100762422-100762490
            2192-2303           JAXUCZ010000006.1  100763021-100763132
            2304-2443           JAXUCZ010000006.1  100763227-100763366
            2444-2485           JAXUCZ010000006.1  100766318-100766359
            2486-2586           JAXUCZ010000006.1  100770782-100770882
            2587-2764           JAXUCZ010000006.1  100771653-100771830
            2765-2872           JAXUCZ010000006.1  100774147-100774254
            2873-3025           JAXUCZ010000006.1  100774702-100774854
            3026-3119           JAXUCZ010000006.1  100779001-100779094
            3120-3333           JAXUCZ010000006.1  100780787-100781000
FEATURES             Location/Qualifiers
     source          1..3333
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="6"
                     /map="6q24"
     gene            1..3333
                     /gene="Mthfd1"
                     /note="methylenetetrahydrofolate dehydrogenase,
                     cyclohydrolase and formyltetrahydrofolate synthetase 1"
                     /db_xref="GeneID:64300"
                     /db_xref="RGD:708531"
     exon            1..348
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     CDS             308..3115
                     /gene="Mthfd1"
                     /EC_number="1.5.1.5"
                     /EC_number="6.3.4.3"
                     /EC_number="3.5.4.9"
                     /note="C1-THF synthase; C1-tetrahydrofolate synthase;
                     methylenetetrahydrofolate dehydrogenase (NADP+ dependent),
                     methenyltetrahydrofolate cyclohydrolase,
                     formyltetrahydrofolate synthase; methylenetetrahydrofolate
                     dehydrogenase (NADP+ dependent) 1,
                     methenyltetrahydrofolate cyclohydrolase,
                     formyltetrahydrofolate synthetase"
                     /codon_start=1
                     /product="C-1-tetrahydrofolate synthase, cytoplasmic"
                     /protein_id="NP_071953.2"
                     /db_xref="GeneID:64300"
                     /db_xref="RGD:708531"
                     /translation="MAPAGILNGKVVSAQIRNRLKTQVTQMQEQVPGFTPGLAILQVG
                     DRDDSNLYINVKLKAAQEIGIKATHIKLPRTSTESEVLKYVISLNEDATVHGFIVQLP
                     LDSENSINTEAVINAIAPEKDVDGLTSINAGKLARGDLKDCFIPCTPKGCLELIKETG
                     VQIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTADLDKEVNKGDILVVATGQ
                     PEMVKGEWIKPGAVVIDCGINYVPDDTKPNGRKVVGDVAYDEAKEKASFITPVPGGVG
                     PMTVAMLMQSTVESAQRFLKKFKPGKWTIQYNKLNLKTPVPSDIAISRSCKPKLIGNL
                     AREIGLLTEEVELYGETKAKVLLSALDRLKHQPDGKYVVVTGITPTPLGEGKSTTTIG
                     LVQALGAHLHQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAIT
                     AANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRKFSDIQIRRLRRLGIEKTDPA
                     ALTDDEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVA
                     SEIMAVLALTSSLEDMRARLGKMVVASSKKGEPISCEDLGVSGALTVLMKDAIKPNLM
                     QTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFN
                     IKCRYSGLQPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYTEEDLDLVEKGFSNLRK
                     QIENARMFGVPVVVAMNAFKTDTDAELDLIGRLSREHGAFDAVKCTHWAEGGQGALAL
                     AQAVQRASQAPSSFQLLYDLKLSVEDKIRIIAQKIYGADDIELLPEAQNKAEIYTKQG
                     FGNLPICMAKTHLSLSHNPEQKGVPTGFVLPIRDIRASVGAGFLYPLVGTMSTMPGLP
                     TRPCFYDIDLDPETEQVNGLF"
     exon            349..433
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            434..493
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            494..547
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            548..684
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            685..785
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..922
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1034
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1162
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1260
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1434
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1571
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1618
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1726
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1727..1801
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1904
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1905..1981
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            1982..2122
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2191
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2192..2303
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2304..2443
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2444..2485
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2486..2586
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2587..2764
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2765..2872
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            2873..3025
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            3026..3119
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
     exon            3120..3333
                     /gene="Mthfd1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tcagaggcaa gctccacaca ggctctttcc acagccagtc acagccgcca accagtcttt
       61 ggtgacagtc ttcttgctgc cagggcccac cggctccctc agactctcct gcctccgctg
      121 tcagcgggtc acgacgtcat tccggtcgcc tgcgcacctt cgctgctggg agcgcgacgc
      181 aggcgcattg actgagtttc cccgggagat ccctgagcac gtgggttgtg ctgtcccgta
      241 cgcgcgcgga gggactggaa cctgaatttt gctggtgttc ttcgtgggta gcagactagc
      301 aagggccatg gcaccagcgg gaatcctgaa cgggaaagtg gtctccgcgc aaatcaggaa
      361 tcgactgaag acccaggtta ctcagatgca ggagcaggta cctggcttca cccctggcct
      421 ggcaatcctg caggttggcg acagagatga ttccaatctt tatataaatg tgaagctgaa
      481 ggctgctcaa gagatcggga tcaaagccac tcacattaaa ttaccaagaa cttccacaga
      541 gtcggaggtg ttaaaatacg tcatctccct gaatgaggat gccactgtgc acggattcat
      601 agtacagctg cctttagact cagagaattc cattaacaca gaggcagtca tcaatgccat
      661 tgcccctgag aaggatgtgg acgggttgac gagcatcaat gccgggaagc ttgccagagg
      721 tgatctaaag gactgcttca ttccgtgcac acccaaagga tgcttggaac tcatcaaaga
      781 gacaggagtg cagattgcag gaaggcacgc cgtggtggtc gggcgaagta aaatagttgg
      841 tgcacccatg cacgacctgc ttctgtggaa caatgccacg gtgaccacct gccactccaa
      901 gactgccgat ctggacaagg aggtaaataa aggagacatt ctggtggttg caacaggaca
      961 gcctgagatg gtgaaagggg agtggatcaa gcctggagct gtggtcatag actgtgggat
     1021 caattatgtt ccagatgata caaaaccaaa tggaaggaaa gttgtgggtg acgtagcata
     1081 tgacgaggcc aaggagaagg cgagctttat cacgcctgtc cccggtggcg tggggcccat
     1141 gaccgtggca atgctgatgc agagcacagt agagagcgca cagcgcttcc tgaagaaatt
     1201 taagccaggg aagtggacaa ttcagtataa caagctgaac ctcaagacgc ctgtaccaag
     1261 tgacattgct atatcacgat cttgcaaacc caagctcatc ggtaacctgg cccgagaaat
     1321 tgggctactc actgaggagg tggaattgta tggagaaaca aaggccaagg tcttactgtc
     1381 agcactagat cgcctgaagc atcagccaga tgggaaatac gttgtggtga ctggaattac
     1441 tccaacaccc ctgggagaag ggaagagcac aaccaccatc gggcttgtgc aagccctcgg
     1501 cgcccacctg catcagaatg tttttgcgtg tgtgcgacag ccttctcagg gccccacctt
     1561 tgggataaaa ggtggcgctg caggaggcgg ctattcccag gtcattccta tggaagagtt
     1621 taatctccac ctcactggtg acatccacgc catcactgcc gctaataacc ttgtggctgc
     1681 tgctattgac gctcggatat ttcatgagct gacccagaca gacaaggctc tctttaatcg
     1741 tctggtaccc tcagtaaatg gagtaagaaa gttctctgac atccaaatcc gcaggttacg
     1801 gaggctaggc attgagaaga ctgaccccgc tgcgctgaca gatgatgaga taaacagatt
     1861 tgcaagacta gatattgatc cagaaaccat aacatggcag agagtgctgg atactaacga
     1921 tagattcctg aggaagatca ccattggaca ggctccaacc gagaaaggcc acacacgcac
     1981 ggcccagttt gatatctctg tggccagtga aatcatggca gtcctggccc tcactagttc
     2041 tctggaagac atgagagcaa ggctgggcaa aatggtggta gcgtccagta agaaagggga
     2101 gcctatcagc tgtgaagacc tgggcgtgag cggggcgctg acggtgctca tgaaggatgc
     2161 gatcaagccc aatctcatgc agaccttaga gggcacgccg gtatttgtcc atgctgggcc
     2221 ttttgccaac attgcacatg ggaattcctc catcattgca gaccggattg cactcaagct
     2281 ggttggccct gagggctttg tagtgacaga agcaggattc ggagcagaca taggaatgga
     2341 aaagttcttc aacatcaagt gccggtattc tggtctccag cctcatgtgg tggttcttgt
     2401 tgccactgtc agggctctta agatgcacgg gggtggcccc acggtcaccg ctggactgcc
     2461 tcttcccaag gcttacacag aagaggacct ggacctggtg gaaaagggct tcagtaactt
     2521 gaggaaacag atagaaaatg ctagaatgtt tggagtgcct gtcgtggtgg ccatgaatgc
     2581 attcaagaca gatacagatg ctgagctgga cctcatcggc cgcctctcca gagagcatgg
     2641 ggctttcgat gctgtcaagt gcacccactg ggcagaaggg ggccagggag ccttagccct
     2701 ggctcaggct gtccagagag cttcacaggc ccccagcagc ttccagctcc tctatgacct
     2761 caagctctca gttgaagata aaatcaggat tattgcacag aagatctacg gggccgatga
     2821 catcgaattg ctccctgaag cacaaaacaa agcagaaatc tacacaaagc agggctttgg
     2881 gaatctaccc atctgcatgg ccaaaacaca cttgtcttta tctcacaacc cagagcaaaa
     2941 aggggtgcct actggcttcg ttctgcccat ccgggacatc cgggccagcg ttggggctgg
     3001 tttcctgtac cctttagtag gaacgatgag cacaatgcct ggactcccta ctcgaccctg
     3061 tttttatgat atcgatttgg accctgaaac tgaacaagtg aatggattgt tttaaacaga
     3121 tcttccatct ccaagaggct actctgtctg gccagtgtct gttcaggccc actgaggaag
     3181 tgtgcagaga agtcttgaaa gtctgtgcct gccctgaaga gcttcagaaa tagtggaagt
     3241 ttctctaaag cctttcatag ccttaattca gatcatgtat aaattaacat aaatcatgcc
     3301 tatttacata gtaaaagtcc acagaataaa tga
//
