LOCUS       NM_032601                824 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens methylmalonyl-CoA epimerase (MCEE), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_032601
VERSION     NM_032601.4
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 824)
  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 824)
  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   3  (bases 1 to 824)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 824)
  AUTHORS   Heuberger,K., Bailey,H.J., Burda,P., Chaikuad,A., Krysztofinska,E.,
            Suormala,T., Burer,C., Lutz,S., Fowler,B., Froese,D.S., Yue,W.W.
            and Baumgartner,M.R.
  TITLE     Genetic, structural, and functional analysis of pathogenic
            variations causing methylmalonyl-CoA epimerase deficiency
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1865 (6), 1265-1272 (2019)
   PUBMED   30682498
  REMARK    GeneRIF: Results indicate that methylmalonyl-CoA epimerase
            (MCEE)-Arg143Cys mutaaaaaaation was detectable at comparable levels
            to wildtype (wt) MCEE, but had slightly altered unfolding kinetics
            and greatly reduced activity.
REFERENCE   5  (bases 1 to 824)
  AUTHORS   Chandler,R.J., Aswani,V., Tsai,M.S., Falk,M., Wehrli,N.,
            Stabler,S., Allen,R., Sedensky,M., Kazazian,H.H. and Venditti,C.P.
  TITLE     Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis
            elegans: evidence for a role of methylmalonyl-CoA epimerase in
            intermediary metabolism
  JOURNAL   Mol Genet Metab 89 (1-2), 64-73 (2006)
   PUBMED   16843692
REFERENCE   6  (bases 1 to 824)
  AUTHORS   Dobson,C.M., Gradinger,A., Longo,N., Wu,X., Leclerc,D.,
            Lerner-Ellis,J., Lemieux,M., Belair,C., Watkins,D., Rosenblatt,D.S.
            and Gravel,R.A.
  TITLE     Homozygous nonsense mutation in the MCEE gene and siRNA suppression
            of methylmalonyl-CoA epimerase expression: a novel cause of mild
            methylmalonic aciduria
  JOURNAL   Mol Genet Metab 88 (4), 327-333 (2006)
   PUBMED   16697227
REFERENCE   7  (bases 1 to 824)
  AUTHORS   Bikker,H., Bakker,H.D., Abeling,N.G., Poll-The,B.T., Kleijer,W.J.,
            Rosenblatt,D.S., Waterham,H.R., Wanders,R.J. and Duran,M.
  TITLE     A homozygous nonsense mutation in the methylmalonyl-CoA epimerase
            gene (MCEE) results in mild methylmalonic aciduria
  JOURNAL   Hum Mutat 27 (7), 640-643 (2006)
   PUBMED   16752391
REFERENCE   8  (bases 1 to 824)
  AUTHORS   Bobik,T.A. and Rasche,M.E.
  TITLE     Identification of the human methylmalonyl-CoA racemase gene based
            on the analysis of prokaryotic gene arrangements. Implications for
            decoding the human genome
  JOURNAL   J Biol Chem 276 (40), 37194-37198 (2001)
   PUBMED   11481338
REFERENCE   9  (bases 1 to 824)
  AUTHORS   Manoli,I., Sloan,J.L. and Venditti,C.P.
  TITLE     Isolated Methylmalonic Acidemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301409
REFERENCE   10 (bases 1 to 824)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF364547.1, BC020825.1 and
            AI033764.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032601.3.
            
            Summary: The product of this gene catalyzes the interconversion of
            D- and L-methylmalonyl-CoA during the degradation of branched chain
            amino acids. odd chain-length fatty acids, and other metabolites.
            Mutations in this gene result in methylmalonyl-CoA epimerase
            deficiency, which is presented as mild to moderate methylmalonic
            aciduria. [provided by RefSeq, Jul 2008].
            
            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 :: SRR5189652.63614.1,
                                           SRR5189661.77625.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000244217.6/ ENSP00000244217.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-541               AF364547.1         9-549
            542-822             BC020825.1         542-822
            823-824             AI033764.1         17-18               c
FEATURES             Location/Qualifiers
     source          1..824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..824
                     /gene="MCEE"
                     /gene_synonym="GLOD2; MCE; MMCE"
                     /note="methylmalonyl-CoA epimerase"
                     /db_xref="GeneID:84693"
                     /db_xref="HGNC:HGNC:16732"
                     /db_xref="MIM:608419"
     exon            1..50
                     /gene="MCEE"
                     /gene_synonym="GLOD2; MCE; MMCE"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..541
                     /gene="MCEE"
                     /gene_synonym="GLOD2; MCE; MMCE"
                     /EC_number="5.1.99.1"
                     /note="glyoxalase domain containing 2; methylmalonyl-CoA
                     epimerase, mitochondrial; DL-methylmalonyl-CoA racemase;
                     methylmalonyl CoA isomerase"
                     /codon_start=1
                     /product="methylmalonyl-CoA epimerase, mitochondrial
                     precursor"
                     /protein_id="NP_115990.3"
                     /db_xref="CCDS:CCDS1915.1"
                     /db_xref="GeneID:84693"
                     /db_xref="HGNC:HGNC:16732"
                     /db_xref="MIM:608419"
                     /translation="MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTGSVWN
                     LGRLNHVAIAVPDLEKAAAFYKNILGAQVSEAVPLPEHGVSVVFVNLGNTKMELLHPL
                     GRDSPIAGFLQKNKAGGMHHICIEVDNINAAVMDLKKKKIRSLSEEVKIGAHGKPVIF
                     LHPKDCGGVLVELEQA"
     exon            51..388
                     /gene="MCEE"
                     /gene_synonym="GLOD2; MCE; MMCE"
                     /inference="alignment:Splign:2.1.0"
     exon            389..824
                     /gene="MCEE"
                     /gene_synonym="GLOD2; MCE; MMCE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      680..685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCEE"
                     /gene_synonym="GLOD2; MCE; MMCE"
                     /note="hexamer: AATATA"
     polyA_site      701
                     /gene="MCEE"
                     /gene_synonym="GLOD2; MCE; MMCE"
ORIGIN      
        1 gctttccaaa atggcgcggg tgctgaaggc tgcagccgcg aatgccgtag ggcttttttc
       61 cagacttcaa gctcccattc caacagtaag agcttcttcc acatcacagc ccttggatca
      121 agtgacaggt tctgtgtgga acctgggtcg actcaaccat gtagccatag cagtgccaga
      181 tttggaaaag gctgcagcat tttataagaa tattctgggg gcccaggtaa gtgaagcggt
      241 ccctcttcct gaacatggag tatctgttgt ttttgtcaac ctgggaaata ccaagatgga
      301 actgcttcat ccattgggac gtgacagtcc aattgcaggt tttctgcaga aaaacaaggc
      361 tggaggaatg catcacatct gcatcgaggt ggataatatt aatgcagctg tgatggattt
      421 gaaaaaaaag aagatccgca gtctaagtga agaggtcaaa ataggagcac atggaaaacc
      481 agtgattttt ctccatccta aagactgtgg tggagtcctt gtggaactgg agcaagcttg
      541 atttatattt gcaagcaact aaattaattg acctgaaaaa gcctatcaaa tactatcaaa
      601 atgtactatg acattgagtc cttcactgct tccatcatgt aaaagttcac agttaaagac
      661 tgaattacag aaagattaaa atatatacat atataaatac ataaatatgt atattattta
      721 gattaacaaa catatttgtt aatttgaatt tgaagaaaat cttgattact aattacttag
      781 ggaacattat taaaatcata tagaaataaa ttattcctct tcta
//
