LOCUS       NM_001159377            3028 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens methenyltetrahydrofolate synthetase domain containing
            (MTHFSD), transcript variant 1, mRNA.
ACCESSION   NM_001159377
VERSION     NM_001159377.2
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 3028)
  AUTHORS   MacNair,L., Xiao,S., Miletic,D., Ghani,M., Julien,J.P., Keith,J.,
            Zinman,L., Rogaeva,E. and Robertson,J.
  TITLE     MTHFSD and DDX58 are novel RNA-binding proteins abnormally
            regulated in amyotrophic lateral sclerosis
  JOURNAL   Brain 139 (Pt 1), 86-100 (2016)
   PUBMED   26525917
REFERENCE   2  (bases 1 to 3028)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   3  (bases 1 to 3028)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   4  (bases 1 to 3028)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 3028)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK297726.1, BC112059.1 and AC009108.10.
            
            On May 17, 2019 this sequence version replaced NM_001159377.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.4006450.1,
                                           SRR11853559.12878.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360900.11/ ENSP00000354152.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                AK297726.1         1-32
            33-993              BC112059.1         13-973
            994-3028            AC009108.10        111616-113650
FEATURES             Location/Qualifiers
     source          1..3028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..3028
                     /gene="MTHFSD"
                     /note="methenyltetrahydrofolate synthetase domain
                     containing"
                     /db_xref="GeneID:64779"
                     /db_xref="HGNC:HGNC:25778"
                     /db_xref="MIM:616820"
     exon            1..67
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1203
                     /gene="MTHFSD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     methenyltetrahydrofolate synthetase domain-containing
                     protein; methenyltetrahydrofolate synthase
                     domain-containing protein"
                     /codon_start=1
                     /product="methenyltetrahydrofolate synthase
                     domain-containing protein isoform 1"
                     /protein_id="NP_001152849.1"
                     /db_xref="CCDS:CCDS54047.1"
                     /db_xref="GeneID:64779"
                     /db_xref="HGNC:HGNC:25778"
                     /db_xref="MIM:616820"
                     /translation="MEPRAVGVSKQDIREQIWGYMESQNLADFPRPVHHRIPNFKGSY
                     LACQNIKDLDVFARTQEVKVDPDKPLEGVRLLVLQSKKTLLVPTPRLRTGLFNKITPP
                     PGATKDILRKCATSQGVRNYSVPIGLDSRVLVDLVVVGSVAVSEKGWRIGKGEGYADL
                     EYAMMVSMGAVSKETPVVTIVHDCQVVDIPEELVEEHDITVDYILTPTRVIATGCKRP
                     KPMGITWFKISLEMMEKIPILRSLRAREQQAGKDVTLQGEHQHLPEPGCQQTVPLSVG
                     RRPPDTPGPETNSMEAAPGSPPGEGAPLAADVYVGNLPGDARVSDLKRALRELGSVPL
                     RLTWQGPRRRAFLHYPDSAAAQQAVSCLQGLRLGTDTLRVALARQQRDK"
     exon            68..174
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     exon            175..288
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     exon            289..402
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     exon            403..493
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     exon            494..606
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     exon            607..732
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     exon            733..3028
                     /gene="MTHFSD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2314..2319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTHFSD"
                     /note="hexamer: ATTAAA"
     polyA_site      2337
                     /gene="MTHFSD"
                     /note="major polyA site"
     regulatory      3009..3014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTHFSD"
                     /note="hexamer: AATAAA"
     polyA_site      3028
                     /gene="MTHFSD"
                     /note="major polyA site"
ORIGIN      
        1 actacgcgcc agaacctgcg ccgggaagcg tcgcacagcg actgcatcac catggagccg
       61 agggcagtag gtgtctccaa acaggacata cgtgaacaaa tttggggcta catggaatca
      121 caaaatttag ctgactttcc ccgacctgtt catcacagga tacccaactt taaggggtct
      181 tatctggctt gccaaaacat caaagaccta gacgtttttg ccagaacaca ggaagttaaa
      241 gtggaccctg ataaaccact ggaaggcgtt cggctgctgg tgctgcagag caaaaaaaca
      301 ttgttggttc caacaccacg actgagaacg ggattgttta ataagatcac accaccccct
      361 ggggcaacta aagacatctt gagaaaatgt gccacctctc agggtgtgag gaactacagt
      421 gtccccatag gcttggactc cagagtcctc gtggatttag ttgtggtggg atccgtcgcc
      481 gtttctgaaa aaggctggag aatcgggaag ggagaaggct acgccgatct ggaatatgcc
      541 atgatggtat ccatgggcgc cgtcagcaag gagacgccgg tggtcaccat cgtccacgac
      601 tgccaggtcg tggacatccc tgaagagctt gttgaggagc acgacatcac tgtggactac
      661 atcctcactc caaccagagt catcgccaca ggctgcaagc gcccaaagcc aatgggaatc
      721 acctggttca agatcagcct ggagatgatg gagaaaatcc ccatactgag gagcctccgc
      781 gcccgagagc agcaggctgg gaaggatgtc accctccagg gtgagcacca gcaccttccg
      841 gaaccaggct gccagcagac agtgcccctg agtgttggca ggaggccccc ggacacaccc
      901 ggaccagaaa ccaattccat ggaggcagcc cctggctccc caccagggga gggtgccccg
      961 cttgcagccg atgtttacgt tgggaacctc cccggggacg cccgtgtgag tgacctgaag
     1021 agagccctgc gggaactcgg ctccgtgccc ctgcggctca cctggcaggg cccgcggcgc
     1081 agagccttcc tccattaccc ggactctgcc gcagcccagc aggccgtctc ctgcttgcag
     1141 ggcctgcgcc tgggcaccga caccctgagg gtggcgctgg ccaggcagca gagggacaag
     1201 tgacctcgtg gacagccacg gagctcactg cagactcgcc atccccgtcc cctgccgctc
     1261 cggttccgat ggcactcgag aggcctgcgt ggcaagacgt gtcggagcca ccgcctgagc
     1321 tgctcgggtc tcaattcttc tcagaagtca ccgctcagtg aacgcccagg ccctcctgtg
     1381 agtggggaag ccgccctgcg gttcatctca cagcgcgcag agactgcagc ctcccaatcg
     1441 tgcaggctcg ggccttgagt cggtttctgt ttctctggag ggacagagca gaggggccag
     1501 ggactgagtg agtggctaag caggggaggg tgatgtgaag gtgatctcga gtttgccagg
     1561 ggtgggctga acaggagaag atgaacaaag gatccggctc tcaaaaggcc ctggcaggga
     1621 ctggatgctg ggtacagaag cgcgcccttg ggcttcaggc tcctgagctg gcagcacggc
     1681 agggagagct ccatccatgt cgcaggagcc caggaagctc agcccctggg taaaaagtgc
     1741 tcactgcagc tcagatcagt cctcaggtca catttcgggg agccagcctc ccctcttccc
     1801 ctccccagcc ccgctcctcc ctctgtggac acactccggg ccctcagcca gctggctgca
     1861 tgaggagcag ctttgtgctg tgggagagac cggctctggg agaatgggtt tcatcccagc
     1921 ctacgtcaca tttgcccagt gccttatgtt ttctgggttt ttttcctcca gttctgtttc
     1981 taaaaaccag cttgagtttg gctgaactgt cctttctcaa cagaagcgct tttgcaattg
     2041 atcccgggca acaagtcaaa ataagctttt aagtggagat tttgtttttt tcaaatgtat
     2101 atgctttgga aattttgatt ttttagccag agggttttac caagtgttct ttgaagcaca
     2161 ttacgatgcc tcgagagggc ggcccgtgca cgcgctttca agaaaatgtt ctcgggacac
     2221 tcggtcttct ctttgaaagg acattttctc attggttttg ccgtgaaaat cctgtggaga
     2281 cttcgcaaag aaaacgcagc cttacatttg ctcattaaag acagatttcc ttcccaagtc
     2341 gccatgaata aaatgagaga gtagaaacgt ctggaagcgc cacacctggc cctgggccct
     2401 cggccctctg tgtccttggc cttgcccccg cccgcacggc tggtcacgtt tgtcattggg
     2461 cattcagctc agcgtcagag gctgactcag tccccagttc agagtagtca cctggttaca
     2521 ctgaactcct caccttcttt tctctctttt tttaaaaaat acttcttttt ctgaaagatt
     2581 cttatttttt tttttttgtt tacctttttc ctgtggattt gctgccgtta gaatagcaac
     2641 tccaggagaa gagcaagtga gtcagccccc cttctccact ccctgcccca ccggcagtgg
     2701 gcacagccct gcagacagga gcaaggactt cggggaatag acccactggg gccgggagag
     2761 ggagaagctg gattctgacc ccaccactgg cactcctgtg tccagccatg cctgacgccc
     2821 accccaccct cagacggcgg gattaaacca ggcagtacag ggttactcgg ggaagccaga
     2881 ctgctgggat ttcctgtcgc tttagccaga ataatccagg tatatggata tacagataat
     2941 ctgaaagagt ttctcatttt tatatttgtg gaacatcgtg taagaaaaac tgaagagcaa
     3001 gtgcctgaaa taaaatcccc cacatgta
//
