LOCUS       NM_001399409            3680 bp    mRNA    linear   ROD 01-APR-2024
DEFINITION  Rattus norvegicus methylmalonyl-CoA mutase (Mmut), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_001399409 XM_001067239
VERSION     NM_001399409.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 3680)
  AUTHORS   Ruetz,M., Campanello,G.C., McDevitt,L., Yokom,A.L., Yadav,P.K.,
            Watkins,D., Rosenblatt,D.S., Ohi,M.D., Southworth,D.R. and
            Banerjee,R.
  TITLE     Allosteric Regulation of Oligomerization by a B12 Trafficking
            G-Protein Is Corrupted in Methylmalonic Aciduria
  JOURNAL   Cell Chem Biol 26 (7), 960-969 (2019)
   PUBMED   31056463
REFERENCE   2  (bases 1 to 3680)
  AUTHORS   Plessl,T., Burer,C., Lutz,S., Yue,W.W., Baumgartner,M.R. and
            Froese,D.S.
  TITLE     Protein destabilization and loss of protein-protein interaction are
            fundamental mechanisms in cblA-type methylmalonic aciduria
  JOURNAL   Hum Mutat 38 (8), 988-1001 (2017)
   PUBMED   28497574
REFERENCE   3  (bases 1 to 3680)
  AUTHORS   Han,L.S., Huang,Z., Han,F., Wang,Y., Gong,Z.W. and Gu,X.F.
  TITLE     Eight novel MUT loss-of-function missense mutations in Chinese
            patients with isolated methylmalonic academia
  JOURNAL   World J Pediatr 13 (4), 381-386 (2017)
   PUBMED   28101778
REFERENCE   4  (bases 1 to 3680)
  AUTHORS   Forny,P., Schnellmann,A.S., Buerer,C., Lutz,S., Fowler,B.,
            Froese,D.S. and Baumgartner,M.R.
  TITLE     Molecular Genetic Characterization of 151 Mut-Type Methylmalonic
            Aciduria Patients and Identification of 41 Novel Mutations in MUT
  JOURNAL   Hum Mutat 37 (8), 745-754 (2016)
   PUBMED   27167370
REFERENCE   5  (bases 1 to 3680)
  AUTHORS   Froese,D.S., Kochan,G., Muniz,J.R., Wu,X., Gileadi,C.,
            Ugochukwu,E., Krysztofinska,E., Gravel,R.A., Oppermann,U. and
            Yue,W.W.
  TITLE     Structures of the human GTPase MMAA and vitamin B12-dependent
            methylmalonyl-CoA mutase and insight into their complex formation
  JOURNAL   J Biol Chem 285 (49), 38204-38213 (2010)
   PUBMED   20876572
REFERENCE   6  (bases 1 to 3680)
  AUTHORS   Chandler,R.J. and Venditti,C.P.
  TITLE     Long-term rescue of a lethal murine model of methylmalonic acidemia
            using adeno-associated viral gene therapy
  JOURNAL   Mol Ther 18 (1), 11-16 (2010)
   PUBMED   19861951
REFERENCE   7  (bases 1 to 3680)
  AUTHORS   Ballhausen,D., Mittaz,L., Boulat,O., Bonafe,L. and Braissant,O.
  TITLE     Evidence for catabolic pathway of propionate metabolism in CNS:
            expression pattern of methylmalonyl-CoA mutase and propionyl-CoA
            carboxylase alpha-subunit in developing and adult rat brain
  JOURNAL   Neuroscience 164 (2), 578-587 (2009)
   PUBMED   19699272
  REMARK    GeneRIF: Methylmalonyl-CoA mutase and PCCA show a much higher
            expression level in the entire CNS than in the liver, suggesting a
            different, but important function of this pathway during brain
            development.
REFERENCE   8  (bases 1 to 3680)
  AUTHORS   Chandler,R.J., Sloan,J., Fu,H., Tsai,M., Stabler,S., Allen,R.,
            Kaestner,K.H., Kazazian,H.H. and Venditti,C.P.
  TITLE     Metabolic phenotype of methylmalonic acidemia in mice and humans:
            the role of skeletal muscle
  JOURNAL   BMC Med Genet 8, 64 (2007)
   PUBMED   17937813
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3680)
  AUTHORS   Peters,H., Nefedov,M., Sarsero,J., Pitt,J., Fowler,K.J., Gazeas,S.,
            Kahler,S.G. and Ioannou,P.A.
  TITLE     A knock-out mouse model for methylmalonic aciduria resulting in
            neonatal lethality
  JOURNAL   J Biol Chem 278 (52), 52909-52913 (2003)
   PUBMED   14555645
REFERENCE   10 (bases 1 to 3680)
  AUTHORS   Mootha,V.K., Bunkenborg,J., Olsen,J.V., Hjerrild,M.,
            Wisniewski,J.R., Stahl,E., Bolouri,M.S., Ray,H.N., Sihag,S.,
            Kamal,M., Patterson,N., Lander,E.S. and Mann,M.
  TITLE     Integrated analysis of protein composition, tissue diversity, and
            gene regulation in mouse mitochondria
  JOURNAL   Cell 115 (5), 629-640 (2003)
   PUBMED   14651853
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000009.1.
            
            On Jan 7, 2022 this sequence version replaced XM_001067239.7.
            
            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 :: SRR26643292.36959.1,
                                           SRR26643291.25082.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760386,
                                           SAMEA5760393 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            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
            1-75                JAXUCZ010000009.1  27454049-27454123   c
            76-494              JAXUCZ010000009.1  27451572-27451990   c
            495-862             JAXUCZ010000009.1  27450132-27450499   c
            863-1020            JAXUCZ010000009.1  27447585-27447742   c
            1021-1192           JAXUCZ010000009.1  27445208-27445379   c
            1193-1441           JAXUCZ010000009.1  27441878-27442126   c
            1442-1553           JAXUCZ010000009.1  27439487-27439598   c
            1554-1669           JAXUCZ010000009.1  27437864-27437979   c
            1670-1785           JAXUCZ010000009.1  27436280-27436395   c
            1786-1917           JAXUCZ010000009.1  27435085-27435216   c
            1918-2065           JAXUCZ010000009.1  27432902-27433049   c
            2066-2233           JAXUCZ010000009.1  27432163-27432330   c
            2234-3680           JAXUCZ010000009.1  27425935-27427381   c
FEATURES             Location/Qualifiers
     source          1..3680
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="9"
                     /map="9q13"
     gene            1..3680
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /note="methylmalonyl-CoA mutase"
                     /db_xref="GeneID:688517"
                     /db_xref="RGD:1587662"
     exon            1..75
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            76..494
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..2362
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /EC_number="5.4.99.2"
                     /note="methylmalonyl-Coenzyme A mutase; rCG43751-like"
                     /codon_start=1
                     /product="methylmalonyl-CoA mutase, mitochondrial"
                     /protein_id="NP_001386338.1"
                     /db_xref="GeneID:688517"
                     /db_xref="RGD:1587662"
                     /translation="MLRAKNQLFLLSPHYLKQLKDASSYRWKRLLHQQQPLHPEWAVL
                     AKKQLKGKNPEDLIWHTPEGISIKPLYSRADTMDLPEELPGVKPFTRGPYPTMYTYRP
                     WTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGV
                     AIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLATFIVTGEEQGVPKEKLTGTIQND
                     ILKEFMVRNTYIFPPEPSMKIIADIFQYTAQHMPKFNSISISGYHMQEAGADAILELA
                     YTIADGLEYCRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKM
                     FQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEAL
                     GLPTVKSARIARNTQIIIQEESGIPKVADPWGGSYMMESLTNDVYEAALKLIYEVEEM
                     GGMAKAVAEGIPKLRIEECAARRQARIDSGSEVIVGVNKYQLEKEDSVEVLAIDNTSV
                     RKKQIEKLKKIKSSRDQALAERSLNALTQCAASGDGNILALAVDAARARCTVGEITDA
                     LKKVFGEHKANDRMVSGAYRQEFGESKEITSAIKRVNKFMEREGRRPRLLVAKMGQDG
                     HDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQAVDADVHAVGVSTLAAGHKTLVPE
                     LIKELSALGRPDILVMCGGVIPPQDYEFLYEVGVSNVFGPGTRIPKAAVQVLDDIEKS
                     LAEKQQSV"
     exon            495..862
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1020
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1192
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1441
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1553
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..1669
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1670..1785
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1917
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            1918..2065
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..2233
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
     exon            2234..3680
                     /gene="Mmut"
                     /gene_synonym="Mut"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ctccggagct ccagcggcga gcgccagtgg ctctagggca ttggggttcg atctgcgcgg
       61 tcgaccccca acactgttcg ttctcatttt cgtttgggag tattcatgct tcaccatgtt
      121 gagagctaag aatcagcttt ttttgttatc gccccattac ctgaagcagc taaaagatgc
      181 atcatcctac agatggaaac ggctcctaca tcagcagcaa ccccttcacc cagaatgggc
      241 tgtcctggcc aaaaaacagc tgaaaggcaa aaacccagag gatctaatat ggcacacccc
      301 agaagggatc tctataaagc ccttatattc cagggctgat actatggact tacctgaaga
      361 actgccggga gtgaagccat tcacacgtgg accatatccc accatgtata cctatagacc
      421 ctggaccatc cgtcagtatg cgggctttag tactgtggag gaaagcaata aattctataa
      481 ggacaatatt aaggctggtc agcaggggtt gtctgttgcc ttcgacctgg caacccatcg
      541 tggttatgat tcagacaatc cccgagttcg tggcgatgtc ggaatggcgg gagttgctat
      601 tgacaccgta gaagacacca aaatcctatt tgatggtatt cctttagaaa aaatgtctgt
      661 ttccatgacc atgaatggag ccgtcatccc agtcctggca acatttatag taactgggga
      721 ggagcaaggt gtaccgaagg agaagctcac cggcacaatt cagaatgaca tcctaaagga
      781 gttcatggtc agaaatactt atattttccc cccagagcca tccatgaaga ttatcgctga
      841 cattttccaa tacacagcac agcacatgcc aaaatttaat tccatttcga ttagcgggta
      901 ccacatgcag gaagcaggag ctgatgccat tttagaactg gcctatacca tcgcggatgg
      961 gttggagtac tgcagaactg gactccaggc tggactcaca attgatgaat ttgcgccaag
     1021 gttgtctttc ttttggggaa ttggaatgaa cttctacatg gaaatagcga agatgcgagc
     1081 tgggagaaga ctgtgggctc acttaataga aaaaatgttc cagcctaaaa actccaaatc
     1141 tctccttcta agagcacatt gtcagacatc agggtggtcc cttactgagc aggatcctta
     1201 caataacatt gtccgcactg ctatcgaagc catggcagct gtgtttggag gaacacagtc
     1261 cttgcatacg aactcttttg atgaagctct aggcttgccc actgtgaaaa gtgctcggat
     1321 tgcccggaac acacaaatca tcattcagga agagtctggg atcccaaaag tggctgatcc
     1381 ttggggagga tcatacatga tggagtctct cacaaatgat gtttatgaag ctgctctgaa
     1441 gttgatatat gaagttgaag aaatgggtgg aatggccaaa gctgtagctg aaggaatccc
     1501 taaacttcgc attgaagaat gtgctgcccg aagacaagct agaatagatt ctggttctga
     1561 agtaattgtt ggagtaaata agtatcagtt ggaaaaagaa gactctgtgg aggtcctggc
     1621 cattgataat acttcagtgc gtaagaagca gattgaaaaa cttaagaaga tcaaatccag
     1681 ccgggatcag gctttggctg agcggtccct caatgcactt acccagtgtg ctgccagtgg
     1741 agatggcaat attctagctc ttgcagtgga tgcagctcgt gcaagatgta cagttggaga
     1801 aatcacagat gctttgaaga aagtatttgg tgagcataaa gctaatgatc gtatggtgag
     1861 tggagcatat cggcaggagt ttggagaaag caaagagatc acatctgcca tcaagagagt
     1921 taataaattc atggaacgtg aaggtcgcag acctcgtctt cttgtggcaa aaatgggaca
     1981 agatggccat gacagaggag ccaaggtcat tgctacaggc tttgctgatc ttggttttga
     2041 tgtggacata ggccctcttt ttcagactcc ccgtgaagtg gcgcagcaag ccgtggatgc
     2101 agatgtccat gctgtgggtg tcagcacact cgctgctggt cataaaaccc tcgttcctga
     2161 gctcatcaaa gaacttagtg ccctgggacg gccagatatc cttgtcatgt gtgggggtgt
     2221 gatcccacca caggattatg aatttttata tgaagttggt gtttccaacg tatttggtcc
     2281 tggaacccgg attcccaagg ctgccgttca agtgcttgat gatattgaga aatctttggc
     2341 agagaagcag caatctgtat aacatctgga cctttagtta tgaccaaaga aagtagtagt
     2401 cagactatgt ctacaggtaa tcccaacatc tgttagtatg cttgctttag aaaccgtata
     2461 ttaaaggact ctgattataa atgtgcaatc atgccaacac acgtgtttaa agaatctgag
     2521 ttataaaaaa atctctgaaa atcatctaaa ccaaatattt ttcaagtaca ttattttaga
     2581 aattaaaatg gtatactgct ttgaaatagc taataataca attcttataa ataattaaac
     2641 ttttgttttg tcctttgaga tggggtctca ctatgtagct ctggctgtct tggagctcac
     2701 tctcgccagt ctggcctcaa actcacagag acccacctgc ctctgcatcc ctagtacagg
     2761 gttaaaaggt atgtgccaca tgcccagcca ataattaaac tttacattta aaattttggc
     2821 tgattctttc ttcaatttaa gtgttgattt gagtactaga aactcaagtt tctgtgttaa
     2881 tatattaata aaataataac atttatctta taagagatag tggatggtat ttatggatgg
     2941 caatagactg gggttatgat cctcagccag atctactatt gcttcaataa aagtagtatt
     3001 tatcatctcc tgtacaatgg agtagagggc atggcagtta tgccttccag gattgcttca
     3061 actccttctc agcatgggag tgatattgcc aatgtcagag ctgaccccaa attctggaaa
     3121 agatgtttgt gaacacttcc ctaaatgaag tgctgatgga cataggaatt tgctataatg
     3181 gcaatctaag tctattacac aaaataaatg aattttcaga tctagaaaca tgcttatctg
     3241 tatagatttt tttatgaaag atgttacaaa aataaagatg gtctgaagaa cccttgtagt
     3301 gtgatgttaa gaaatgtact cattgaagga agagaatcac tctgtgttaa cataaggtat
     3361 tcaatgaagg taagctgagc aaaaggattc tttggtaatt ttctacattg tagatcagat
     3421 aatagtgtgg aggaaaaatc atatattgtt gtagaattaa tacactgtac tataatattg
     3481 ttttcagaac atgattcttg gggagggtat catgattatt gtttccattt taaagaaaag
     3541 cagtttgact tctaggtcag caatgtattc actttgtcat gtactcactt atgtactgtg
     3601 tataaagaaa tacatattca ataaatgtga tgttcctatc atgtgtcatc cagcactatg
     3661 tgctggtgac atggcatata
//
