LOCUS       NM_000255               3811 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens methylmalonyl-CoA mutase (MMUT), mRNA; nuclear gene
            for mitochondrial product.
ACCESSION   NM_000255
VERSION     NM_000255.4
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 3811)
  AUTHORS   Guo,Y., Zhu,X., Song,L., Wang,Y., Gao,J., Yuan,E., Yu,H., Fang,Y.,
            Shi,Q., Zhao,D. and Zhang,L.
  TITLE     Genetic analysis of isolated methylmalonic acidemia in Henan,
            China: c.1663G>A variant of MMUT prevalent in the Henan population
  JOURNAL   Clin Chim Acta 553, 117729 (2024)
   PUBMED   38128819
  REMARK    GeneRIF: Genetic analysis of isolated methylmalonic acidemia in
            Henan, China: c.1663G>A variant of MMUT prevalent in the Henan
            population.
REFERENCE   2  (bases 1 to 3811)
  AUTHORS   Ramon,C., Traversi,F., Burer,C., Froese,D.S. and Stelling,J.
  TITLE     Cellular and computational models reveal environmental and
            metabolic interactions in MMUT-type methylmalonic aciduria
  JOURNAL   J Inherit Metab Dis 46 (3), 421-435 (2023)
   PUBMED   36371683
REFERENCE   3  (bases 1 to 3811)
  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   4  (bases 1 to 3811)
  AUTHORS   Yu,Y., Shuai,R., Liang,L., Qiu,W., Shen,L., Wu,S., Wei,H., Chen,Y.,
            Yang,C., Xu,P., Chen,X., Zou,H., Feng,J., Niu,T., Hu,H., Ye,J.,
            Zhang,H., Lu,D., Gong,Z., Zhan,X., Ji,W., Gu,X. and Han,L.
  TITLE     Different mutations in the MMUT gene are associated with the effect
            of vitamin B12 in a cohort of 266 Chinese patients with mut-type
            methylmalonic acidemia: A retrospective study
  JOURNAL   Mol Genet Genomic Med 9 (11), e1822 (2021)
   PUBMED   34668645
  REMARK    GeneRIF: Different mutations in the MMUT gene are associated with
            the effect of vitamin B12 in a cohort of 266 Chinese patients with
            mut-type methylmalonic acidemia: A retrospective study.
REFERENCE   5  (bases 1 to 3811)
  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   6  (bases 1 to 3811)
  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
REFERENCE   7  (bases 1 to 3811)
  AUTHORS   Crane,A.M., Martin,L.S., Valle,D. and Ledley,F.D.
  TITLE     Phenotype of disease in three patients with identical mutations in
            methylmalonyl CoA mutase
  JOURNAL   Hum Genet 89 (3), 259-264 (1992)
   PUBMED   1351030
REFERENCE   8  (bases 1 to 3811)
  AUTHORS   Crane,A.M., Jansen,R., Andrews,E.R. and Ledley,F.D.
  TITLE     Cloning and expression of a mutant methylmalonyl coenzyme A mutase
            with altered cobalamin affinity that causes mut- methylmalonic
            aciduria
  JOURNAL   J Clin Invest 89 (2), 385-391 (1992)
   PUBMED   1346616
REFERENCE   9  (bases 1 to 3811)
  AUTHORS   Raff,M.L., Crane,A.M., Jansen,R., Ledley,F.D. and Rosenblatt,D.S.
  TITLE     Genetic characterization of a MUT locus mutation discriminating
            heterogeneity in mut0 and mut- methylmalonic aciduria by
            interallelic complementation
  JOURNAL   J Clin Invest 87 (1), 203-207 (1991)
   PUBMED   1670635
REFERENCE   10 (bases 1 to 3811)
  AUTHORS   Frenkel,E.P. and Kitchens,R.L.
  TITLE     Intracellular localization of hepatic propionyl-CoA carboxylase and
            methylmalonyl-CoA mutase in humans and normal and vitamin B12
            deficient rats
  JOURNAL   Br J Haematol 31 (4), 501-513 (1975)
   PUBMED   24458
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292568.1, AK312611.1 and
            AL590668.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000255.3.
            
            Summary: This gene encodes the mitochondrial enzyme methylmalonyl
            Coenzyme A mutase. In humans, the product of this gene is a vitamin
            B12-dependent enzyme which catalyzes the isomerization of
            methylmalonyl-CoA to succinyl-CoA, while in other species this
            enzyme may have different functions. Mutations in this gene may
            lead to various types of methylmalonic aciduria. [provided by
            RefSeq, Jul 2008].
            
            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 :: MF170186.1, MF170185.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000274813.4/
                                                  ENSP00000274813.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-825               AK292568.1         52-876
            826-1958            AK312611.1         876-2008
            1959-2200           AK292568.1         2010-2251
            2201-2443           AK312611.1         2251-2493
            2444-3811           AL590668.5         20031-21398         c
FEATURES             Location/Qualifiers
     source          1..3811
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..3811
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="methylmalonyl-CoA mutase"
                     /db_xref="GeneID:4594"
                     /db_xref="HGNC:HGNC:7526"
                     /db_xref="MIM:609058"
     exon            1..151
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            152..575
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..2443
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /EC_number="5.4.99.2"
                     /note="methylmalonyl Coenzyme A mutase; mutant
                     methylmalonyl CoA mutase; methylmalonyl-CoA mutase,
                     mitochondrial; methylmalonyl-CoA isomerase;
                     methylmalonyl-CoA mutase variant c.613_615delGAA;
                     methylmalonyl-CoA mutase c.*192delA; methylmalonyl-CoA
                     mutase variant c.322C>T; methylmalonyl-CoA mutase variant
                     c.636G>A; methylmalonyl-CoA mutase variant c.643G>A;
                     methylmalonyl-CoA mutase variant c.1495G>A;
                     methylmalonyl-CoA mutase variant c.2011A>G;
                     methylmalonyl-CoA mutase variant c.2150G>T;
                     methylmalonyl-CoA mutase c.*51C>G"
                     /codon_start=1
                     /product="methylmalonyl-CoA mutase, mitochondrial
                     precursor"
                     /protein_id="NP_000246.2"
                     /db_xref="CCDS:CCDS4924.1"
                     /db_xref="GeneID:4594"
                     /db_xref="HGNC:HGNC:7526"
                     /db_xref="MIM:609058"
                     /translation="MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWA
                     ALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTF
                     RPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMA
                     GVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQ
                     NDILKEFMVRNTYIFPPEPSMKIIADIFEYTAKHMPKFNSISISGYHMQEAGADAILE
                     LAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIE
                     KMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDE
                     ALGLPTVKSARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIE
                     EMGGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVGVNKYQLEKEDAVEVLAIDNT
                     SVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARCTVGEIT
                     DALKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVHKFMEREGRRPRLLVAKMGQ
                     DGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLV
                     PELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSNVFGPGTRIPKAAVQVLDDIE
                     KCLEKKQQSV"
     exon            576..943
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1101
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1273
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..1522
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1634
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            1635..1750
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            1751..1866
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..1998
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            1999..2146
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            2147..2314
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     exon            2315..3811
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2778..2783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: ATTAAA"
     polyA_site      2798
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
     regulatory      2852..2857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     regulatory      2869..2874
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     polyA_site      2876
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
     polyA_site      2890
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
     regulatory      3405..3410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     polyA_site      3428
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
     regulatory      3787..3792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="hexamer: AATAAA"
     polyA_site      3811
                     /gene="MMUT"
                     /gene_synonym="MCM; MUT"
                     /note="major polyA site"
ORIGIN      
        1 agagtcgtcc ggctgacgct ggcggtggcg cggtttgtgt gggcttggtg agggcgggga
       61 ggcctggctg tgtggatgtc tgacaggtga ggcgggggac gcagaagtgc agccgccctc
      121 tcccacagcg gagtccaaaa caggcctacc agtcagttct tatttctatt gggtgtttcc
      181 atgctccacc atgttaagag ctaagaatca gcttttttta ctttcacctc attacctgag
      241 gcaggtaaaa gaatcatcag gctccaggct catacagcaa cgacttctac accagcaaca
      301 gccccttcac ccagaatggg ctgccctggc taaaaagcag ctgaaaggca aaaacccaga
      361 agacctaata tggcacaccc cggaagggat ctctataaaa cccttgtatt ccaagagaga
      421 tactatggac ttacctgaag aacttccagg agtgaagcca ttcacacgtg gaccatatcc
      481 taccatgtat acctttaggc cctggaccat ccgccagtat gctggtttta gtactgtgga
      541 agaaagcaat aagttctata aggacaacat taaggctggt cagcagggat tatcagttgc
      601 ctttgatctg gcgacacatc gtggctatga ttcagacaac cctcgagttc gtggtgatgt
      661 tggaatggct ggagttgcta ttgacactgt ggaagatacc aaaattcttt ttgatggaat
      721 tcctttagaa aaaatgtcag tttccatgac tatgaatgga gcagttattc cagttcttgc
      781 aaattttata gtaactggag aagaacaagg tgtacctaaa gagaagctta ctggtaccat
      841 ccaaaatgat atactaaagg aatttatggt tcgaaataca tacatttttc ctccagaacc
      901 atccatgaaa attattgctg acatatttga atatacagca aagcacatgc caaaatttaa
      961 ttcaatttca attagtggat accatatgca ggaagcaggg gctgatgcca ttctggagct
     1021 ggcctatact ttagcagatg gattggagta ctctagaact ggactccagg ctggcctgac
     1081 aattgatgaa tttgcaccaa ggttgtcttt cttctgggga attggaatga atttctatat
     1141 ggaaatagca aagatgagag ctggtagaag actctgggct cacttaatag agaaaatgtt
     1201 tcagcctaaa aactcaaaat ctcttcttct aagagcacac tgtcagacat ctggatggtc
     1261 acttactgag caggatccct acaataatat tgtccgtact gcaatagaag caatggcagc
     1321 agtatttgga gggactcagt ctttgcacac aaattctttt gatgaagctt tgggtttgcc
     1381 aactgtgaaa agtgctcgaa ttgccaggaa cacacaaatc atcattcaag aagaatctgg
     1441 gattcccaaa gtggctgatc cttggggagg ttcttacatg atggaatgtc tcacaaatga
     1501 tgtttatgat gctgctttaa agctcattaa tgaaattgaa gaaatgggtg gaatggccaa
     1561 agctgtagct gagggaatac ctaaacttcg aattgaagaa tgtgctgccc gaagacaagc
     1621 tagaatagat tctggttctg aagtaattgt tggagtaaat aagtaccagt tggaaaaaga
     1681 agacgctgta gaagttctgg caattgataa tacttcagtg cgaaacaggc agattgaaaa
     1741 acttaagaag atcaaatcca gcagggatca agctttggct gaacgttgtc ttgctgcact
     1801 aaccgaatgt gctgctagcg gagatggaaa tatcctggct cttgcagtgg atgcatctcg
     1861 ggcaagatgt acagtgggag aaatcacaga tgccctgaaa aaggtatttg gtgaacataa
     1921 agcgaatgat cgaatggtga gtggagcata tcgccaggaa tttggagaaa gtaaagagat
     1981 aacatctgct atcaagaggg ttcataaatt catggaacgt gaaggtcgca gacctcgtct
     2041 tcttgtagca aaaatgggac aagatggcca tgacagagga gcaaaagtta ttgctacagg
     2101 atttgctgat cttggttttg atgtggacat aggccctctt ttccagactc ctcgtgaagt
     2161 ggcccagcag gctgtggatg cggatgtgca tgctgtgggc ataagcaccc tcgctgctgg
     2221 tcataaaacc ctagttcctg aactcatcaa agaacttaac tcccttggac ggccagatat
     2281 tcttgtcatg tgtggagggg tgataccacc tcaggattat gaatttctgt ttgaagttgg
     2341 tgtttccaat gtatttggtc ctgggactcg aattccaaag gctgccgttc aggtgcttga
     2401 tgatattgag aagtgtttgg aaaagaagca gcaatctgta taatatcctc tttttgtttt
     2461 agcttttgtc taaaatatta ttttagttat gatcaaagaa gagagtaaag ctatgtcttc
     2521 aatttaattt caatacctga tttgtacttt ccttgaaagc tttactttaa aataccttac
     2581 ttataggcct ggtgtcatgc tataagtatg tacatacagt ttcacttcaa aaataaaaaa
     2641 aaaatcccta aaaactctct atactctcta taacaatact ttatcaagaa ctctggacaa
     2701 tggtattatt tttaaaaatc atggtgatgt atttattaga atgtttctta taaatctgtt
     2761 tactttttat attaagaatt aaactgtacc taaaaaaact ctgactattc ccatttgtca
     2821 gtttagcatt acattgtctt gagcaccaga aaataaaatc catatattaa taaaaaccta
     2881 tcttgaaaaa ctagtggagt gtatttacgt ggcaaaagag attttgggag gagtcctcag
     2941 ccaaattcta ccagaatcac cttaataaaa gaagtattaa aatcaagcac agcaggttgg
     3001 aatatgggga atttgacagt atatttcttc aagtctgagt ttactttctt cctgatcatg
     3061 accatctgac cttgttattt ctgggcttgg ctcaagacca aggagagtgg atgttgatga
     3121 acattccttt aaataaaagt gcttaggttg tagttatggc tttgtctaga atggtgatgt
     3181 caactgtgag tgtaggtctg tgatatagaa agaattcaac tttccagatc tagaaagatg
     3241 ctaccttgca tagatttgct ccttaaacat aaattgcaaa aataaaaata tcacagagaa
     3301 cacctgtact ttgcttactg aaagatttgc tcactaaaga aggaaagttg ccatttacct
     3361 gtttaacaaa tctgcacatc ctgcacatgt tccccagaat gtaaaataaa aaaagtttaa
     3421 ataaaaaagg aaagttgtcc tttattgtta acatgatcca ttacatgaat ataacataaa
     3481 taattatctt ttttaataaa tttctattgt attagatcag agagcagtct tttggaaagt
     3541 attatagata cattactgta gaatttacaa actcattgta atacaatgta tttaattttc
     3601 agaatatgat tatctgaatg gtattgtcat gattattgtt cccattttca gatgaacact
     3661 gacttcaagt ccaatgatat attcactatg ccattttatt gacttttcct tgtaaagcaa
     3721 tgcacactaa tttagtaagt atttggtttc tgtgatgtgt tcagttgcgt gctgggtgac
     3781 atgtgaaata aactcatcct tgaggaattt a
//
