LOCUS       NM_025962               1950 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus methylmalonic aciduria cblC type, with homocystinuria
            (Mmachc), mRNA.
ACCESSION   NM_025962
VERSION     NM_025962.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1950)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1950)
  AUTHORS   Chee,J.M., Lanoue,L., Clary,D., Higgins,K., Bower,L., Flenniken,A.,
            Guo,R., Adams,D.J., Bosch,F., Braun,R.E., Brown,S.D.M., Chin,H.G.,
            Dickinson,M.E., Hsu,C.W., Dobbie,M., Gao,X., Galande,S.,
            Grobler,A., Heaney,J.D., Herault,Y., de Angelis,M.H., Mammano,F.,
            Nutter,L.M.J., Parkinson,H., Qin,C., Shiroishi,T., Sedlacek,R.,
            Seong,J.K., Xu,Y., Brooks,B., McKerlie,C., Lloyd,K.C.K.,
            Westerberg,H. and Moshiri,A.
  CONSRTM   International Mouse Phenotyping Consortium
  TITLE     Genome-wide screening reveals the genetic basis of mammalian
            embryonic eye development
  JOURNAL   BMC Biol 21 (1), 22 (2023)
   PUBMED   36737727
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1950)
  AUTHORS   Chern,T., Achilleos,A., Tong,X., Hill,M.C., Saltzman,A.B.,
            Reineke,L.C., Chaudhury,A., Dasgupta,S.K., Redhead,Y., Watkins,D.,
            Neilson,J.R., Thiagarajan,P., Green,J.B.A., Malovannaya,A.,
            Martin,J.F., Rosenblatt,D.S. and Poche,R.A.
  TITLE     Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin
            metabolism and ribosomopathy
  JOURNAL   Nat Commun 13 (1), 134 (2022)
   PUBMED   35013307
  REMARK    GeneRIF: Mutations in Hcfc1 and Ronin result in an inborn error of
            cobalamin metabolism and ribosomopathy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1950)
  AUTHORS   Imbard,A., Schwendimann,L., Lebon,S., Gressens,P., Blom,H.J. and
            Benoist,J.F.
  TITLE     Liver and brain differential expression of one-carbon metabolism
            genes during ontogenesis
  JOURNAL   Sci Rep 11 (1), 21132 (2021)
   PUBMED   34702858
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1950)
  AUTHORS   Kiessling,E., Notzli,S., Todorova,V., Forny,M., Baumgartner,M.R.,
            Samardzija,M., Krijt,J., Kozich,V., Grimm,C. and Froese,D.S.
  TITLE     Absence of MMACHC in peripheral retinal cells does not lead to an
            ocular phenotype in mice
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1867 (10), 166201 (2021)
   PUBMED   34147638
  REMARK    GeneRIF: Absence of MMACHC in peripheral retinal cells does not
            lead to an ocular phenotype in mice.
REFERENCE   6  (bases 1 to 1950)
  AUTHORS   Froese,D.S., Krojer,T., Wu,X., Shrestha,R., Kiyani,W., von
            Delft,F., Gravel,R.A., Oppermann,U. and Yue,W.W.
  TITLE     Structure of MMACHC reveals an arginine-rich pocket and a
            domain-swapped dimer for its B12 processing function
  JOURNAL   Biochemistry 51 (25), 5083-5090 (2012)
   PUBMED   22642810
REFERENCE   7  (bases 1 to 1950)
  AUTHORS   Koutmos,M., Gherasim,C., Smith,J.L. and Banerjee,R.
  TITLE     Structural basis of multifunctionality in a vitamin B12-processing
            enzyme
  JOURNAL   J Biol Chem 286 (34), 29780-29787 (2011)
   PUBMED   21697092
REFERENCE   8  (bases 1 to 1950)
  AUTHORS   Pupavac,M., Garcia,M.A., Rosenblatt,D.S. and Jerome-Majewska,L.A.
  TITLE     Expression of Mmachc and Mmadhc during mouse organogenesis
  JOURNAL   Mol Genet Metab 103 (4), 401-405 (2011)
   PUBMED   21536470
  REMARK    GeneRIF: During organogenesis Mmachc and Mmadhc may interact in
            only a subset of cells.
REFERENCE   9  (bases 1 to 1950)
  AUTHORS   Kim,J., Hannibal,L., Gherasim,C., Jacobsen,D.W. and Banerjee,R.
  TITLE     A human vitamin B12 trafficking protein uses glutathione
            transferase activity for processing alkylcobalamins
  JOURNAL   J Biol Chem 284 (48), 33418-33424 (2009)
   PUBMED   19801555
REFERENCE   10 (bases 1 to 1950)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB614283.1 and BC054756.1.
            
            On Aug 17, 2007 this sequence version replaced NM_025962.2.
            
            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 :: BC054756.1, AK084194.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164139, SAMN01164143
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-667               BB614283.1         2-668
            668-1950            BC054756.1         607-1889
FEATURES             Location/Qualifiers
     source          1..1950
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 53.29 cM"
     gene            1..1950
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /note="methylmalonic aciduria cblC type, with
                     homocystinuria"
                     /db_xref="GeneID:67096"
                     /db_xref="MGI:MGI:1914346"
     exon            1..148
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..907
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /EC_number="1.16.1.6"
                     /EC_number="2.5.1.151"
                     /note="methylmalonic aciduria and homocystinuria type C
                     protein homolog; cyanocobalamin reductase
                     (cyanide-eliminating); alkylcobalamin:glutathione
                     S-alkyltransferase"
                     /codon_start=1
                     /product="cyanocobalamin reductase / alkylcobalamin
                     dealkylase"
                     /protein_id="NP_080238.2"
                     /db_xref="CCDS:CCDS51278.1"
                     /db_xref="GeneID:67096"
                     /db_xref="MGI:MGI:1914346"
                     /translation="MEPRVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPFP
                     GPTLAFLVLSTPAMFDRALKPFLKSCHFQTLRDPVDQCVSYHLRSVTEKFPEVHMEVI
                     ADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVDADPWGTQHIAGVCIHPRFGGWFAI
                     RGVMLLPGIEVPNLPPRKPPDCVPTRAGRITLLEGFNFHWRDWTYRDAVTPEERYSEE
                     QKIYFSTPPAQRLALLGLAQPSEHPSTTSELPLSLLTKPQNSRRARSWLSPSVSPPVS
                     PGP"
     exon            149..343
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /inference="alignment:Splign:2.1.0"
     exon            344..496
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /inference="alignment:Splign:2.1.0"
     exon            497..1930
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1909..1914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /note="hexamer: AATACA"
     polyA_site      1930
                     /gene="Mmachc"
                     /gene_synonym="1810037K07Rik; CblC"
                     /note="major polyA site"
ORIGIN      
        1 gacgcataca agcctaagtt agctatgaga ctccatttcc cagcaagctc agcgttcagc
       61 gtgcgttatg gagccgcgag tcgcagagct gaagcagaag attgaggaca ccttgtgtcc
      121 ttttggcttc gaagtttatc ccttccaggt ggcgtggtac aatgaactcc tgcctccagc
      181 cttccacttg cccttcccag gacctaccct ggccttcctg gtactcagca cacctgctat
      241 gtttgacaga gccctcaaac ccttcttaaa gagctgccac ttccaaacac tgagagaccc
      301 ggtggatcaa tgtgtgtcct accacctgag gagtgttaca gagaagtttc cagaagtgca
      361 tatggaagtc attgctgact atgaggtaca ccccaatcgg cgacctaaga ttctcgccca
      421 gacagcagcc catgtggcag gtgctgctta ttactaccaa cgacaagatg tggatgcaga
      481 cccatggggg acccagcaca tagcaggtgt gtgcatacac ccccgatttg ggggctggtt
      541 tgccatccga ggggttatgt tgctgccagg gattgaagtg ccaaatttgc cacccagaaa
      601 gccccctgac tgtgtgccta caagagctgg ccgcatcact ctgcttgaag gtttcaattt
      661 ccattggcgg gactggactt accgtgatgc tgtgactcct gaagaacggt actccgaaga
      721 acagaagatc tacttttcca ccccacctgc ccaacgcttg gccctattag gcttagccca
      781 accctcagaa caccctagca ctacatctga gcttcctctt tccttgctta ctaaacctca
      841 gaattccagg agagctcgaa gctggctgag tccaagtgtc tcaccacctg tatccccagg
      901 cccttgataa cttttcccct tcaggatccc actcatagta gatttatttt aagtaggatt
      961 tgggttttga aaaaaacact ttctcctttt ttagtttttt tgagacaagg ttcctctatg
     1021 tagctcagac caggttggcc tcaagctaag agagatccat ctgcctctgt cttctccaga
     1081 gtgctgattt tttgcactgt ggaaaaacca ttttatttta ggtaggattt cctgataata
     1141 gtgcttcaga cagtcaagac tcaatttaca ttggtcaaga taaatcatat gccaaggcag
     1201 actcaaaaat cagcagttga cttcaaatat tagactcatg cccattacta tttttttgtt
     1261 tttgtttttt gttttttcaa gacagggttt ctctgtgtag ccctggctgt cctggaactc
     1321 actctgttga ccaggctggc ctcaaactca gaaatccacc tgcctctgcc tcccgagtgc
     1381 tgggattaaa ggcgtgcact accaagcccg gctttgtgta gtactcttaa gatactattt
     1441 aagaaccatg gttctcactg ttcgttccta aagctgctat catttaatgc agttcctcat
     1501 gttgtagtga ccgcaaccat aaaattattt ttgttgctac ctaataattt tgctagttat
     1561 gaatcaattg tcttagggaa tccagtgaaa gggttgttca acaacccctg ggggctgaga
     1621 atcacagatt tagcagctcc taggggtacc caccacattg agctatgctg aattaatatt
     1681 taagtaaact acattgaaac tgccccgacc tacagtgtgc tattactaaa ggctcaggca
     1741 atcttatact tatgctcaaa tagatgtact ttgaattctg gaatgttgga aggacatgat
     1801 gtcataggat tattttgtca accctaacca agaatccaga agaaacttcc tgactttaca
     1861 ggatcagaaa ggaatattct ctcatcacag ctaaaataca agtagttgaa tacaatcata
     1921 tccaaagcca aaaaaaaaaa aaaaaaaaaa
//
