LOCUS       NM_006441               2301 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens methenyltetrahydrofolate synthetase (MTHFS),
            transcript variant 1, mRNA.
ACCESSION   NM_006441
VERSION     NM_006441.4
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 2301)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2301)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2301)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 2301)
  AUTHORS   Teumer,A., Holtfreter,B., Volker,U., Petersmann,A., Nauck,M.,
            Biffar,R., Volzke,H., Kroemer,H.K., Meisel,P., Homuth,G. and
            Kocher,T.
  TITLE     Genome-wide association study of chronic periodontitis in a general
            German population
  JOURNAL   J Clin Periodontol 40 (11), 977-985 (2013)
   PUBMED   24024966
REFERENCE   5  (bases 1 to 2301)
  AUTHORS   Prakash,T., Sharma,V.K., Adati,N., Ozawa,R., Kumar,N., Nishida,Y.,
            Fujikake,T., Takeda,T. and Taylor,T.D.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2301)
  AUTHORS   Lim,U., Wang,S.S., Hartge,P., Cozen,W., Kelemen,L.E., Chanock,S.,
            Davis,S., Blair,A., Schenk,M., Rothman,N. and Lan,Q.
  TITLE     Gene-nutrient interactions among determinants of folate and
            one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER
            case-control study
  JOURNAL   Blood 109 (7), 3050-3059 (2007)
   PUBMED   17119116
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2301)
  AUTHORS   Anguera,M.C., Suh,J.R., Ghandour,H., Nasrallah,I.M., Selhub,J. and
            Stover,P.J.
  TITLE     Methenyltetrahydrofolate synthetase regulates folate turnover and
            accumulation
  JOURNAL   J Biol Chem 278 (32), 29856-29862 (2003)
   PUBMED   12764149
  REMARK    GeneRIF: Methenyltetrahydrofolate synthetase regulates folate
            turnover and accumulation
REFERENCE   8  (bases 1 to 2301)
  AUTHORS   Dayan,A., Bertrand,R., Beauchemin,M., Chahla,D., Mamo,A.,
            Filion,M., Skup,D., Massie,B. and Jolivet,J.
  TITLE     Cloning and characterization of the human
            5,10-methenyltetrahydrofolate synthetase-encoding cDNA
  JOURNAL   Gene 165 (2), 307-311 (1995)
   PUBMED   8522195
REFERENCE   9  (bases 1 to 2301)
  AUTHORS   Bertrand,R., Beauchemin,M., Dayan,A., Ouimet,M. and Jolivet,J.
  TITLE     Identification and characterization of human mitochondrial
            methenyltetrahydrofolate synthetase activity
  JOURNAL   Biochim Biophys Acta 1266 (3), 245-249 (1995)
   PUBMED   7766710
REFERENCE   10 (bases 1 to 2301)
  AUTHORS   Bertrand,R., MacKenzie,R.E. and Jolivet,J.
  TITLE     Human liver methenyltetrahydrofolate synthetase: improved
            purification and increased affinity for folate polyglutamate
            substrates
  JOURNAL   Biochim Biophys Acta 911 (2), 154-161 (1987)
   PUBMED   3801490
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019921.1, L38928.1,
            AC021483.11 and AL109717.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_006441.3.
            
            Summary: The protein encoded by this gene is an enzyme that
            catalyzes the conversion of 5-formyltetrahydrofolate to
            5,10-methenyltetrahydrofolate, a precursor of reduced folates
            involved in 1-carbon metabolism. An increased activity of the
            encoded protein can result in an increased folate turnover rate and
            folate depletion. Three transcript variants encoding two different
            isoforms have been found for this gene. [provided by RefSeq, Jun
            2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: SRR11853562.12124.1,
                                           SRR18074968.2029741.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258874.4/ ENSP00000258874.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                BC019921.1         36-51
            17-870              L38928.1           4-857
            871-1543            AC021483.11        135847-136519       c
            1544-2301           AL109717.1         1-758
FEATURES             Location/Qualifiers
     source          1..2301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..2301
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /note="methenyltetrahydrofolate synthetase"
                     /db_xref="GeneID:10588"
                     /db_xref="HGNC:HGNC:7437"
                     /db_xref="MIM:604197"
     exon            1..143
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..638
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /EC_number="6.3.3.2"
                     /note="isoform a is encoded by transcript variant 1;
                     methenyl-THF synthetase; 5,10-methenyltetrahydrofolate
                     synthetase (5-formyltetrahydrofolate cyclo-ligase)"
                     /codon_start=1
                     /product="5-formyltetrahydrofolate cyclo-ligase isoform a"
                     /protein_id="NP_006432.1"
                     /db_xref="CCDS:CCDS10311.1"
                     /db_xref="GeneID:10588"
                     /db_xref="HGNC:HGNC:7437"
                     /db_xref="MIM:604197"
                     /translation="MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHS
                     EYQKSKRISIFLSMQDEIETEEIIKDIFQRGKICFIPRYRFQSNHMDMVRIESPEEIS
                     LLPKTSWNIPQPGEGDVREEALSTGGLDLIFMPGLGFDKHGNRLGRGKGYYDAYLKRC
                     LQHQEVKPYTLALAFKEQICLQVPVNENDMKVDEVLYEDSSTA"
     exon            144..405
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /inference="alignment:Splign:2.1.0"
     exon            406..2301
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      785..790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /note="hexamer: TATAAA"
     polyA_site      808
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /note="major polyA site"
     regulatory      834..839
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /note="hexamer: ATTAAA"
     polyA_site      872
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
     regulatory      2281..2286
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
                     /note="hexamer: AGTAAA"
     polyA_site      2301
                     /gene="MTHFS"
                     /gene_synonym="HsT19268; NEDMEHM"
ORIGIN      
        1 gggactggac tcggcttggg cgtgagatgg cggcggcagc ggtgagcagc gccaagcgga
       61 gcctgcgggg agagctgaag cagcgtctgc gggcgatgag tgccgaggag cggctacgcc
      121 agtcccgcgt actgagccag aaggtgattg cccacagtga gtatcaaaag tccaaaagaa
      181 tttccatctt tctgagcatg caagatgaaa ttgagacaga agagatcatc aaggacattt
      241 tccaacgagg caaaatctgc ttcatccctc ggtaccggtt ccagagcaat cacatggata
      301 tggtgagaat agaatcacca gaggaaattt ctttacttcc caaaacatcc tggaatatcc
      361 ctcagcctgg tgagggtgat gttcgggagg aggccttgtc cacaggggga cttgatctca
      421 tcttcatgcc aggccttggg tttgacaaac atggcaaccg actggggagg ggcaagggct
      481 actatgatgc ctatctgaag cgctgtttgc agcatcagga agtgaagccc tacaccctgg
      541 cgttggcttt caaagaacag atttgcctcc aggtcccagt gaatgaaaac gacatgaagg
      601 tagatgaagt cctttacgaa gactcgtcaa cagcttaaat ctggattact acagccaaat
      661 aatcagtgtt ttatatgaga gtaaagcaaa gtatgtgtat ttttcccttg tcaaaaatta
      721 gttgaaattg ttcattaatg tgaatacaga ctgcatttta aaattgtaat tatgaaatac
      781 cttatataaa accatcttta aaaaccaata gaagtgtgaa tagtagaata ttaattaaaa
      841 tggaggctat cagcctgtga ttttcagctt aacttcctgg tgttaatgtg acaagttgat
      901 ctgtctactt tgcaatttaa gttaaatatt tatgaggaac tgtgctccga ctgagtgcga
      961 gaggaaggta aacttgcggg agtgggcact gtatttcatt acgcctttca tgacctggtc
     1021 tgtcctggca ggcacatgga gacttgggga ctattaattt atttgttggt atttgctttg
     1081 gatacagaat tccctaagaa tattatctca cttcatcatg acttccttta cccactctag
     1141 aattttatgt tggacacttt gtagcttttg gtggttagtg gagggaaacc ttttatgatt
     1201 taaatacttt tactccactg attggttacc atcactgcat gtatcagccc ttgatgagtt
     1261 taagatctag tatcttataa gttagaaatt atttctgttt actcatggtt tctgctttgg
     1321 aaatgaaatt tgctgtgagt tgaaagttgg cagatggcaa cacagctagg gagcaataat
     1381 tttgttgtgg ggaggatttg gtcatctcca gaaacccggg agtcacgtgg ctctcttact
     1441 cacactccat gtccatcctg tcaccaggtc ttgttgattt tgcctctgaa atgcctctta
     1501 aatctattct ctcctttcaa ttttcctgtc actccttttg tccagccttt tagcatttct
     1561 aagctggact aggcgagagt gtcacacctg cttcccttgg cttccatctt gcctcttcca
     1621 gtttatttct caagctgcag tcaaactgat cttagaaaac acgaatctaa tcatgcagca
     1681 cccctgacta aggtcttccg gtggctgttc agagcctctt gggtagcaaa cagatggctt
     1741 ctgttgtata caaagcccct taagagaggt ctcctcatct actttttcta gcctcttctc
     1801 tcccaactct gtattctcct gtaacactga ctgagcactg caggcttctg ccctttgcac
     1861 atagtaagca tgcatttctc tctgtctgaa atgctctttc tgttgttcat ctagaagact
     1921 gttttccctt gaagactcag ccctagcatc acctcttctg tgaagtcttc tgctactttc
     1981 ccaagcagag tgagtgttcc ttcccttgtc tgagtggcct tggccattga tgtgcttatc
     2041 atgttgtctt acgtatcaaa ttatttgttg tcatatctgt ccccttcacc atactgtgag
     2101 ctccaaagaa aagaagtgat ctttatactt cttatgctta gtacacaact agacatatag
     2161 tgtgtgtgtg agagagagaa ttttttaatg aaataattga atacattgga agtgtttcat
     2221 tcaaaatact catccattat tctttggata gtagcataaa tttgatgttt tatgtacaaa
     2281 agtaaaaaca tttgaaaaat a
//
