LOCUS       NM_002454               3245 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens 5-methyltetrahydrofolate-homocysteine
            methyltransferase reductase (MTRR), transcript variant 1, mRNA.
ACCESSION   NM_002454
VERSION     NM_002454.3
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 3245)
  AUTHORS   Nasri,K., Ben Jamaa,N., Gaigi,S.S., Feki,M. and Marrakchi,R.
  TITLE     Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms
            with fatty acids profile and risk of neural tube defects
  JOURNAL   Birth Defects Res 116 (5), e2333 (2024)
   PUBMED   38716581
  REMARK    GeneRIF: Association of MTHFR (C677T, A1298C) and MTRR A66G
            polymorphisms with fatty acids profile and risk of neural tube
            defects.
REFERENCE   2  (bases 1 to 3245)
  AUTHORS   Qiu,S., Jin,L., Yang,D. and Zhang,D.
  TITLE     MTHFR and MTRR gene polymorphisms in patients with chronic
            hepatitis B virus infections in Zigong, Sichuan Province
  JOURNAL   Ann Hum Biol 51 (1), 2330926 (2024)
   PUBMED   38634541
  REMARK    GeneRIF: MTHFR and MTRR gene polymorphisms in patients with chronic
            hepatitis B virus infections in Zigong, Sichuan Province.
REFERENCE   3  (bases 1 to 3245)
  AUTHORS   Gunathilake,M., Kim,M., Lee,J., Oh,J.H., Chang,H.J., Sohn,D.K.,
            Shin,A. and Kim,J.
  TITLE     Interactions between vitamin B2, the MTRR rs1801394 and MTR
            rs1805087 genetic polymorphisms, and colorectal cancer risk in a
            Korean population
  JOURNAL   Epidemiol Health 46, e2024037 (2024)
   PUBMED   38514198
  REMARK    GeneRIF: Interactions between vitamin B2, the MTRR rs1801394 and
            MTR rs1805087 genetic polymorphisms, and colorectal cancer risk in
            a Korean population.
REFERENCE   4  (bases 1 to 3245)
  AUTHORS   Antunes,L.A.A., Fialho,W., Fernandes,T.O., Duarte,C.,
            Tavares,J.D.S., Kuchler,E.C. and Antunes,L.S.
  TITLE     Association of MTR and MTRR genes and oral health-related quality
            of life in children with dental caries
  JOURNAL   Braz Oral Res 37, e076 (2023)
   PUBMED   37531512
  REMARK    GeneRIF: Association of MTR and MTRR genes and oral health-related
            quality of life in children with dental caries.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3245)
  AUTHORS   Leclerc,D., Odievre,M., Wu,Q., Wilson,A., Huizenga,J.J., Rozen,R.,
            Scherer,S.W. and Gravel,R.A.
  TITLE     Molecular cloning, expression and physical mapping of the human
            methionine synthase reductase gene
  JOURNAL   Gene 240 (1), 75-88 (1999)
   PUBMED   10564814
REFERENCE   6  (bases 1 to 3245)
  AUTHORS   James,S.J., Pogribna,M., Pogribny,I.P., Melnyk,S., Hine,R.J.,
            Gibson,J.B., Yi,P., Tafoya,D.L., Swenson,D.H., Wilson,V.L. and
            Gaylor,D.W.
  TITLE     Abnormal folate metabolism and mutation in the
            methylenetetrahydrofolate reductase gene may be maternal risk
            factors for Down syndrome
  JOURNAL   Am J Clin Nutr 70 (4), 495-501 (1999)
   PUBMED   10500018
REFERENCE   7  (bases 1 to 3245)
  AUTHORS   Wilson,A., Leclerc,D., Rosenblatt,D.S. and Gravel,R.A.
  TITLE     Molecular basis for methionine synthase reductase deficiency in
            patients belonging to the cblE complementation group of disorders
            in folate/cobalamin metabolism
  JOURNAL   Hum Mol Genet 8 (11), 2009-2016 (1999)
   PUBMED   10484769
REFERENCE   8  (bases 1 to 3245)
  AUTHORS   Wilson,A., Platt,R., Wu,Q., Leclerc,D., Christensen,B., Yang,H.,
            Gravel,R.A. and Rozen,R.
  TITLE     A common variant in methionine synthase reductase combined with low
            cobalamin (vitamin B12) increases risk for spina bifida
  JOURNAL   Mol Genet Metab 67 (4), 317-323 (1999)
   PUBMED   10444342
REFERENCE   9  (bases 1 to 3245)
  AUTHORS   Leclerc,D., Wilson,A., Dumas,R., Gafuik,C., Song,D., Watkins,D.,
            Heng,H.H., Rommens,J.M., Scherer,S.W., Rosenblatt,D.S. and
            Gravel,R.A.
  TITLE     Cloning and mapping of a cDNA for methionine synthase reductase, a
            flavoprotein defective in patients with homocystinuria
  JOURNAL   Proc Natl Acad Sci U S A 95 (6), 3059-3064 (1998)
   PUBMED   9501215
REFERENCE   10 (bases 1 to 3245)
  AUTHORS   Sloan,J.L., Carrillo,N., Adams,D. and Venditti,C.P.
  TITLE     Disorders of Intracellular Cobalamin Metabolism
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC109216.1 and BC054816.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002454.2.
            
            Summary: This gene encodes a member of the ferredoxin-NADP(+)
            reductase (FNR) family of electron transferases. This protein
            functions in the synthesis of methionine by regenerating methionine
            synthase to a functional state. Because methionine synthesis
            requires methyl-group transfer by a folate donor, activity of the
            encoded enzyme is important for folate metabolism and cellular
            methylation. Mutations in this gene can cause
            homocystinuria-megaloblastic anemia, cbl E type. Alternative
            splicing of this gene results in multiple transcript variants.
            [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 6. Variants 1, 2, 6, 7, and 8 all encode the same
            protein.
            
            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 :: SRR1803611.227348.1,
                                           SRR1660803.236555.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000440940.7/ ENSP00000402510.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                BC109216.1         45-85
            42-3245             BC054816.1         1-3204
FEATURES             Location/Qualifiers
     source          1..3245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.31"
     gene            1..3245
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /note="5-methyltetrahydrofolate-homocysteine
                     methyltransferase reductase"
                     /db_xref="GeneID:4552"
                     /db_xref="HGNC:HGNC:7473"
                     /db_xref="MIM:602568"
     exon            1..68
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            69..222
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..2190
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /EC_number="1.16.1.8"
                     /note="[methionine synthase]-cobalamin methyltransferase
                     (cob(II)alamin reducing); methionine synthase reductase,
                     mitochondrial; aqCbl reductase; aquacobalamin reductase"
                     /codon_start=1
                     /product="methionine synthase reductase"
                     /protein_id="NP_002445.2"
                     /db_xref="CCDS:CCDS47190.1"
                     /db_xref="GeneID:4552"
                     /db_xref="HGNC:HGNC:7473"
                     /db_xref="MIM:602568"
                     /translation="MRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKY
                     DLKTETAPLVVVVSTTGTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYT
                     YFCNGGKIIDKRLQELGARHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQ
                     EEISGALPVASPASSRTDLVKSELLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSN
                     VVIEDFESSLTRSVPPLSQASLNIPGLPPEYLQVHLQESLGQEESQVSVTSADPVFQV
                     PISKAVQLTTNDAIKTTLLVELDISNTDFSYQPGDAFSVICPNSDSEVQSLLQRLQLE
                     DKREHCVLLKIKADTKKKGATLPQHIPAGCSLQFIFTWCLEIRAIPKKAFLRALVDYT
                     SDSAEKRRLQELCSKQGAADYSRFVRDACACLLDLLLAFPSCQPPLSLLLEHLPKLQP
                     RPYSCASSSLFHPGKLHFVFNIVEFLSTATTEVLRKGVCTGWLALLVASVLQPNIHAS
                     HEDSGKALAPKISISPRTTNSFHLPDDPSIPIIMVGPGTGIAPFIGFLQHREKLQEQH
                     PDGNFGAMWLFFGCRHKDRDYLFRKELRHFLKHGILTHLKVSFSRDAPVGEEEAPAKY
                     VQDNIQLHGQQVARILLQENGHIYVCGDAKNMAKDVHDALVQIISKEVGVEKLEAMKT
                     LATLKEEKRYLQDIWS"
     exon            223..376
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            377..494
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            495..873
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            874..996
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1150
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1239
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1420
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1463
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1650
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1769
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1862
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..2045
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..3245
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3222..3227
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /note="hexamer: AATAAA"
     polyA_site      3245
                     /gene="MTRR"
                     /gene_synonym="cblE; MSR"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcgct ggcgcaaggt tggtggaagt cgcgttgtgc aggttcgtgc ccggctggcg
       61 cggcgtggtt tcactgttac atgccttgaa gtgatgagga ggtttctgtt actatatgct
      121 acacagcagg gacaggcaaa ggccatcgca gaagaaatat gtgagcaagc tgtggtacat
      181 ggattttctg cagatcttca ctgtattagt gaatccgata agtatgacct aaaaaccgaa
      241 acagctcctc ttgttgttgt ggtttctacc acgggcaccg gagacccacc cgacacagcc
      301 cgcaagtttg ttaaggaaat acagaaccaa acactgccgg ttgatttctt tgctcacctg
      361 cggtatgggt tactgggtct cggtgattca gaatacacct acttttgcaa tggggggaag
      421 ataattgata aacgacttca agagcttgga gcccggcatt tctatgacac tggacatgca
      481 gatgactgtg taggtttaga acttgtggtt gagccgtgga ttgctggact ctggccagcc
      541 ctcagaaagc attttaggtc aagcagagga caagaggaga taagtggcgc actcccggtg
      601 gcatcacctg catcctcgag gacagacctt gtgaagtcag agctgctaca cattgaatct
      661 caagtcgagc ttctgagatt cgatgattca ggaagaaagg attctgaggt tttgaagcaa
      721 aatgcagtga acagcaacca atccaatgtt gtaattgaag actttgagtc ctcacttacc
      781 cgttcggtac ccccactctc acaagcctct ctgaatattc ctggtttacc cccagaatat
      841 ttacaggtac atctgcagga gtctcttggc caggaggaaa gccaagtatc tgtgacttca
      901 gcagatccag tttttcaagt gccaatttca aaggcagttc aacttactac gaatgatgcc
      961 ataaaaacca ctctgctggt agaattggac atttcaaata cagacttttc ctatcagcct
     1021 ggagatgcct tcagcgtgat ctgccctaac agtgattctg aggtacaaag cctactccaa
     1081 agactgcagc ttgaagataa aagagagcac tgcgtccttt tgaaaataaa ggcagacaca
     1141 aagaagaaag gagctacctt accccagcat atacctgcgg gatgttctct ccagttcatt
     1201 tttacctggt gtcttgaaat ccgagcaatt cctaaaaagg catttttgcg agcccttgtg
     1261 gactatacca gtgacagtgc tgaaaagcgc aggctacagg agctgtgcag taaacaaggg
     1321 gcagccgatt atagccgctt tgtacgagat gcctgtgcct gcttgttgga tctcctcctc
     1381 gctttccctt cttgccagcc accactcagt ctcctgctcg aacatcttcc taaacttcaa
     1441 cccagaccat attcgtgtgc aagctcaagt ttatttcacc caggaaagct ccattttgtc
     1501 ttcaacattg tggaatttct gtctactgcc acaacagagg ttctgcggaa gggagtatgt
     1561 acaggctggc tggccttgtt ggttgcttca gttcttcagc caaacataca tgcatcccat
     1621 gaagacagcg ggaaagccct ggctcctaag atatccatct ctcctcgaac aacaaattct
     1681 ttccacttac cagatgaccc ctcaatcccc atcataatgg tgggtccagg aaccggcata
     1741 gccccgttta ttgggttcct acaacataga gagaaactcc aagaacaaca cccagatgga
     1801 aattttggag caatgtggtt gttttttggc tgcaggcata aggataggga ttatctattc
     1861 agaaaagagc tcagacattt ccttaagcat gggatcttaa ctcatctaaa ggtttccttc
     1921 tcaagagatg ctcctgttgg ggaggaggaa gccccagcaa agtatgtgca agacaacatc
     1981 cagcttcatg gccagcaggt ggcgagaatc ctcctccagg agaacggcca tatttatgtg
     2041 tgtggagatg caaagaatat ggccaaggat gtacatgatg cccttgtgca aataataagc
     2101 aaagaggttg gagttgaaaa actagaagca atgaaaaccc tggccacttt aaaagaagaa
     2161 aaacgctacc ttcaggatat ttggtcataa aaccagaaat taaagaaaga ggattaagct
     2221 tttttgactg aaagtactaa aagtcagctt tactagtgcc aaacctttaa attttcaaaa
     2281 gaaaattttc tttcaacatt tcttgaagga catggagtgg agattggatc atttaacaat
     2341 ataacaaaac ttcctgattt gattttacgt atcttctatc tacgcccttc ctgtgcctgt
     2401 gactctcccc aaattgccct gttgccttga gctcttctga gctaaggcag ccttcagtcc
     2461 ctatcagcgc ctcctttact tcccagagaa cttcacagag actctgtcct tccatgcaaa
     2521 ggcttcctga aatagggaga ctgactgagt agctcattct tgtgacttac agtgccaaca
     2581 tttaaaaaag tatgaaaatg atttattttt atatgatgta tacccataaa gaatgctcat
     2641 attaatgtac ttaaattaca catgtagagc atatctgtta tatgtttatg taactatcaa
     2701 atggttattt gttactaaag ctatatttct gataaaaaat attttaggat aattgcctac
     2761 agagggattt atttttatga tgctggaaat atgaaatgta ttttaaaatt tcactctggc
     2821 atatgattta tctatcacca ttactttttt ttaagtcaca atttcagaat tttgggacat
     2881 ttgcattcaa tttacaggta ccagtacgta catattttaa tagaaagata caaccttttt
     2941 attttcactc cttttatttc tgctgcttgg cacatttttg agttttccca cattatttgt
     3001 ctccatgata ccactcaagc agtgtgctgg acctaaaata ctgactttag ttagtatcct
     3061 tggattttta gattcccagt gtctaattcc ctgttataat ttgcacaaac aaaacaaaat
     3121 gttatgataa tctttctcca ctgttctaat atatattgta tttttatttg atagcttggg
     3181 atttaaaaca tctctgttga aggcttttga tccttttgag aaataaagat ctgaaagaaa
     3241 tggca
//
