LOCUS       NM_001144978            2355 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+
            dependent) 2 like (MTHFD2L), transcript variant 2, mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_001144978
VERSION     NM_001144978.3
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 2355)
  AUTHORS   Scaletti,E.R., Gustafsson Westergren,R., Andersson,Y., Wiita,E.,
            Henriksson,M., Homan,E.J., Jemth,A.S., Helleday,T. and Stenmark,P.
  TITLE     The First Structure of Human MTHFD2L and Its Implications for the
            Development of Isoform-Selective Inhibitors
  JOURNAL   ChemMedChem 17 (18), e202200274 (2022)
   PUBMED   35712863
  REMARK    GeneRIF: The First Structure of Human MTHFD2L and Its Implications
            for the Development of Isoform-Selective Inhibitors.
REFERENCE   2  (bases 1 to 2355)
  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   3  (bases 1 to 2355)
  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   4  (bases 1 to 2355)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2355)
  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   6  (bases 1 to 2355)
  AUTHORS   Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H.,
            Vierkant,R.A. and Poland,G.A.
  TITLE     Genome-wide analysis of polymorphisms associated with cytokine
            responses in smallpox vaccine recipients
  JOURNAL   Hum Genet 131 (9), 1403-1421 (2012)
   PUBMED   22610502
REFERENCE   7  (bases 1 to 2355)
  AUTHORS   Bolusani,S., Young,B.A., Cole,N.A., Tibbetts,A.S., Momb,J.,
            Bryant,J.D., Solmonson,A. and Appling,D.R.
  TITLE     Mammalian MTHFD2L encodes a mitochondrial methylenetetrahydrofolate
            dehydrogenase isozyme expressed in adult tissues
  JOURNAL   J Biol Chem 286 (7), 5166-5174 (2011)
   PUBMED   21163947
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093677.4, AI219460.1, BC032771.1, AK122799.1, BC065771.1,
            AV720429.1 and CA438481.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001144978.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.36386.1,
                                           SRR1660809.34366.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325278.7/ ENSP00000321984.7
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-55                AC093677.4         83777-83831
            56-532              AI219460.1         1-477
            533-580             BC032771.1         498-545
            581-1510            AK122799.1         1908-2837
            1511-1859           BC065771.1         891-1239
            1860-2338           AV720429.1         1-479               c
            2339-2355           CA438481.1         12-28               c
FEATURES             Location/Qualifiers
     source          1..2355
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..2355
                     /gene="MTHFD2L"
                     /note="methylenetetrahydrofolate dehydrogenase (NADP+
                     dependent) 2 like"
                     /db_xref="GeneID:441024"
                     /db_xref="HGNC:HGNC:31865"
                     /db_xref="MIM:614047"
     exon            1..164
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1065
                     /gene="MTHFD2L"
                     /EC_number="1.5.1.5"
                     /EC_number="3.5.4.9"
                     /EC_number="1.5.1.15"
                     /note="isoform 2 is encoded by transcript variant 2;
                     probable bifunctional methylenetetrahydrofolate
                     dehydrogenase/cyclohydrolase 2; NADP-dependent
                     methylenetetrahydrofolate dehydrogenase 2-like protein;
                     MTHFD2-like; tetrahydrofolate
                     dehydrogenase/cyclohydrolase; bifunctional
                     methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2,
                     mitochondrial"
                     /codon_start=1
                     /product="bifunctional methylenetetrahydrofolate
                     dehydrogenase/cyclohydrolase 2, mitochondrial isoform 2"
                     /protein_id="NP_001138450.1"
                     /db_xref="CCDS:CCDS47075.1"
                     /db_xref="GeneID:441024"
                     /db_xref="HGNC:HGNC:31865"
                     /db_xref="MIM:614047"
                     /translation="MTVPVRGFSLLRGRLGRAPALGRSTAPSVRAPGEPGSAFRGFRS
                     SGVRHEAIIISGTEMAKHIQKEIQRGVESWVSLGNRRPHLSIILVGDNPASHTYVRNK
                     IRAASAVGICSELILKPKDVSQEELLDVTDQLNMDPRVSGILVQLPLPDHVDERTICN
                     GIAPEKDVDGFHIINIGRLCLDQHSLIPATASAVWEIIKRTGIQTFGKNVVVAGRSKN
                     VGMPIAMLLHTDGEHERPGGDATVTIAHRYTPKEQLKIHTQLADIIIVAAGIPKLITS
                     DMVKEGAAVIDVGINYVHDPVTGKTKLVGDVDFEAVKKKAGFITPVPGGVGPMTVAML
                     LKNTLLAAKKIIY"
     exon            165..349
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     exon            350..472
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     exon            473..625
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     exon            626..733
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     exon            734..826
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     exon            827..952
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     exon            953..2355
                     /gene="MTHFD2L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2334..2339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTHFD2L"
                     /note="hexamer: AATAAA"
     polyA_site      2355
                     /gene="MTHFD2L"
                     /note="major polyA site"
ORIGIN      
        1 ggaagccggg gatccgcggc catgacggtg ccggtccgcg gcttctcgct gctccgcggc
       61 cgccttggcc gagcgccggc gttgggcaga agcacagcac cctccgtaag ggcaccggga
      121 gagcccggga gtgcgttccg gggctttcgg agcagcggtg tgagacatga agccattatt
      181 atatcaggaa ccgaaatggc caagcatatc cagaaagaaa tacagcgagg tgtggaatca
      241 tgggtttccc ttggaaacag aagacctcac ctcagtataa ttttagtggg agataaccca
      301 gcaagccata catatgtcag gaataagata agagctgcct ctgctgtagg tatttgtagt
      361 gagctcattc taaaacctaa ggatgtttct caggaagaac ttttggacgt aactgatcaa
      421 ttgaatatgg acccaagagt cagcggtata ttagttcagt taccactacc agaccacgtt
      481 gatgagcgaa caatatgcaa tggaattgcc ccagaaaaag atgtagatgg atttcatatt
      541 atcaatattg gaagattgtg ccttgatcag cattctctca tacctgccac tgccagtgct
      601 gtttgggaaa taataaaaag aacaggaatt caaacatttg gaaaaaatgt ggttgtggct
      661 ggaagatcca agaacgtagg gatgcctatt gccatgcttt tacacactga tggagagcat
      721 gaacggccag gaggtgatgc aactgtgaca atagctcaca gatacacccc caaagagcaa
      781 ctgaagattc atacgcagct ggcagatatt atcatagttg ctgcaggtat tccaaagttg
      841 attacgtctg atatggttaa agaaggtgct gctgtaattg atgtgggtat caactatgtc
      901 cacgatccag tgacaggaaa gacaaaatta gttggagatg tggacttcga agctgttaaa
      961 aagaaagctg gctttatcac tccagttcca ggaggtgtgg gacccatgac agtggcaatg
     1021 cttctgaaga acacccttct ggcagctaaa aaaatcattt actagatcac atgaaaggat
     1081 aaagcaaact gaagtcatgc tatttgttta tttgacaaag ggtaaaacct ttatatttta
     1141 ctacaaagct atttatttct acatggtatt tattttttca tgggtgaaat cattgtgaat
     1201 caattgattc acatagtttt atgcatttcc tgctaattta ttttgagttt taagaaaaca
     1261 accaaaacaa ttccaatgaa aattttagta acaattgttt attttgaggg tatttgttca
     1321 taacattaaa acaataaagg gctcataata aataaatata tttttgacac aattaaatat
     1381 tacatagagt atgtttacaa caaatatcct gtcagccaaa tggttaccca tataaaatgt
     1441 aatttaggtt ttgctacttg catgctaaca tttttaatgt attttatgat ctatgtcata
     1501 tattaaaaaa gagcttgctt actacaagaa aaatattgaa atattgaaaa tattgaaaat
     1561 attattattg aaaataaaat cttgatctca actatccccc aaatgcatcc tataagtcca
     1621 tcctaatgag aaatgatgtt ctatttaagg aaaggaaaat attccgggaa ggcaaaaaat
     1681 gcagtgctgt ttggaagtgt aatgatttta tcacatggtg aatgactact aagagtaatg
     1741 attatatcac attgtgaatg actacttgcc acagtaaaaa tacatgaaga atgtgttagg
     1801 tttaaacgtc gtttctttct tctaaaaaat atttggttag taccttcact gagcaatagt
     1861 ggaaaaataa aaaaataagt aaacagaaaa aactaaagtt gtattttccc acaaatatag
     1921 tatgaatgag gtcatattaa agaacagcaa ctgttaatgt ttgttcacaa attcagaaat
     1981 ctaataggaa aacatgatac tttcaatgtg ccaaaactaa accttagtat acaactaaaa
     2041 atctcctgcc ttcttgccta cctgtcttcc ctcttctgtt acagaatttg ttcctcaaag
     2101 tagatgcaat gtttctaaca caatttaaat taggaaatat atatgaatgt cgttgaagtc
     2161 tattttgaga ctgctaaagc tattaattga tactgtgttt ttatgcccaa atcccagtat
     2221 gtttatgtac caataatgac tcttacccag cgcatgtctt tatcagtgtg tactcgtgac
     2281 gatttgtgtg aaaatagact tgatgtttat aattaatacc attacaactg tataataaaa
     2341 gcaatttgaa gaaaa
//
