LOCUS       NM_133839               1440 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus methylmalonic aciduria (cobalamin deficiency) cblD
            type, with homocystinuria (Mmadhc), transcript variant 1, mRNA.
ACCESSION   NM_133839
VERSION     NM_133839.3
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 1440)
  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   2  (bases 1 to 1440)
  AUTHORS   Li,Z., Mascarenhas,R., Twahir,U.T., Kallon,A., Deb,A., Yaw,M.,
            Penner-Hahn,J., Koutmos,M., Warncke,K. and Banerjee,R.
  TITLE     An Interprotein Co-S Coordination Complex in the B12-Trafficking
            Pathway
  JOURNAL   J Am Chem Soc 142 (38), 16334-16345 (2020)
   PUBMED   32871076
REFERENCE   3  (bases 1 to 1440)
  AUTHORS   Tian,C. and Johnson,K.R.
  TITLE     TBX1 is required for normal stria vascularis and semicircular canal
            development
  JOURNAL   Dev Biol 457 (1), 91-103 (2020)
   PUBMED   31550482
REFERENCE   4  (bases 1 to 1440)
  AUTHORS   Kole,C., Berdugo,N., Da Silva,C., Ait-Ali,N., Millet-Puel,G.,
            Pagan,D., Blond,F., Poidevin,L., Ripp,R., Fontaine,V., Wincker,P.,
            Zack,D.J., Sahel,J.A., Poch,O. and Leveillard,T.
  TITLE     Identification of an Alternative Splicing Product of the Otx2 Gene
            Expressed in the Neural Retina and Retinal Pigmented Epithelial
            Cells
  JOURNAL   PLoS One 11 (3), e0150758 (2016)
   PUBMED   26985665
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1440)
  AUTHORS   Mah,W., Deme,J.C., Watkins,D., Fung,S., Janer,A., Shoubridge,E.A.,
            Rosenblatt,D.S. and Coulton,J.W.
  TITLE     Subcellular location of MMACHC and MMADHC, two human proteins
            central to intracellular vitamin B(12) metabolism
  JOURNAL   Mol Genet Metab 108 (2), 112-118 (2013)
   PUBMED   23270877
REFERENCE   6  (bases 1 to 1440)
  AUTHORS   Stucki,M., Coelho,D., Suormala,T., Burda,P., Fowler,B. and
            Baumgartner,M.R.
  TITLE     Molecular mechanisms leading to three different phenotypes in the
            cblD defect of intracellular cobalamin metabolism
  JOURNAL   Hum Mol Genet 21 (6), 1410-1418 (2012)
   PUBMED   22156578
REFERENCE   7  (bases 1 to 1440)
  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.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY135511.1, FO712453.1, BM946822.1 and CJ311197.1.
            
            On Feb 8, 2017 this sequence version replaced NM_133839.2.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMN00849380,
                              SAMN00849381 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               BY135511.1         2-116
            116-810             FO712453.1         1-695
            811-1153            BM946822.1         423-765
            1154-1440           CJ311197.1         146-432
FEATURES             Location/Qualifiers
     source          1..1440
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 28.92 cM"
     gene            1..1440
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /note="methylmalonic aciduria (cobalamin deficiency) cblD
                     type, with homocystinuria"
                     /db_xref="GeneID:109129"
                     /db_xref="MGI:MGI:1923786"
     exon            1..159
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     exon            160..217
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..1099
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /note="isoform 1 is encoded by transcript variant 1;
                     methylmalonic aciduria and homocystinuria type D homolog,
                     mitochondrial; cobalamin trafficking protein CblD"
                     /codon_start=1
                     /product="cobalamin trafficking protein CblD isoform 1"
                     /protein_id="NP_598600.1"
                     /db_xref="CCDS:CCDS16027.1"
                     /db_xref="GeneID:109129"
                     /db_xref="MGI:MGI:1923786"
                     /translation="MAHVLCNRARLVSYLPGFCSLVKRVINPRAFSTAGSSGSDESHV
                     ATAPPDICSRTVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSQAHKTLPDV
                     LAEPLSTERHEFVMAQYVNEFQDSDAPVEQEINSAETYFESAKVECAIQTCPELLRRD
                     FESLFPEVANSKLMILTVTQKTENDMTVWSEEVEVEREVLLEKFISGAKEICYALRAE
                     GYWADFIDPSSGVAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVV
                     GSIFTNATADSSIMRKLSGN"
     exon            218..362
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     exon            363..580
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     exon            581..686
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     exon            687..817
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     exon            818..904
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1426
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1402..1407
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /note="hexamer: AATAAA"
     polyA_site      1426
                     /gene="Mmadhc"
                     /gene_synonym="2010311D03Rik; CblD"
                     /note="major polyA site"
ORIGIN      
        1 aagatcatcc tctactcgaa gatcgaccga cggcatcgat gggctcggag gcaactactc
       61 aggcctgggc gtcagcagcg cctctgcctg gaccgcagta gccgccatct tgccagtgga
      121 cggggtgagg gccggggcgc ggaggccgcg cggtgactgg gatactttgc agtggggcaa
      181 gaatttgcgt ccgccttctt cactagaaat ggcccatgtg ctctgtaaca gagccagact
      241 ggtttcctat ctcccaggat tttgttcttt agtgaaaaga gtcatcaatc caagagcctt
      301 ttcaactgca ggatcttcag gttctgatga gtctcatgtg gccaccgcac ctccagatat
      361 atgctctcga acagtgtggc ctgatgaaac tatgggaccc tttggacctc aggaccagag
      421 attccagctt cctgggaata taggcttcga ttgtcacctc aatgggactg cctcacagaa
      481 gaaaagccag gcccataaaa ctttgcctga tgttctagca gagcctcttt caactgaaag
      541 acacgagttt gtgatggcgc agtatgtaaa tgagtttcag gatagtgatg cacctgttga
      601 acaagaaatt aacagtgcag aaacttactt tgaaagtgcc aaagttgagt gtgcgatcca
      661 gacatgtcca gagctgctgc ggagagattt tgagtcactt tttccagaag tggctaatag
      721 caaactaatg atcctgactg taacccagaa aactgaaaat gacatgactg tctggagtga
      781 agaggtggag gttgagagag aggtgctctt ggagaagttc atcagtggtg ctaaggagat
      841 ctgctatgcc cttcgggctg aaggatactg ggctgacttc attgacccat catctggtgt
      901 ggcatttttt ggaccatata ccaacaacac actttttgaa acagatgaac ggtaccggca
      961 tttaggattc tcagttgacg accttggctg ctgtaaagtg atccgtcaca gtctctgggg
     1021 cactcatgtg gttgtaggaa gtatcttcac taacgcaaca gcagacagca gtatcatgag
     1081 gaagctcagt ggaaactagc agctggcact gtgatccctg cagcgctgtt tgtctgtcat
     1141 ggattgctct atataaacac tgtcatggac agcagcttct agaggattct tgtttctagg
     1201 tatttattgt atcatttatg ggtttacatg gacaggtgac ttggggtttc agaattgcaa
     1261 atgctagttc ctattctgga gtgcatgctg aacacatcca tattctgcaa agtgaggtca
     1321 tcagcttgta accagggtat gtgtgttctc ttagggttga ttctcccctt tattgggaaa
     1381 actttaatta ttttttccaa aaataaatca tacatttgtc tatgaaaaaa aaaaaaaaaa
//
