LOCUS       NM_133823               5675 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus methylmalonic aciduria (cobalamin deficiency) type A
            (Mmaa), transcript variant 2, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_133823
VERSION     NM_133823.5
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 5675)
  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 5675)
  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   3  (bases 1 to 5675)
  AUTHORS   Moreno-Garcia,M.A., Rosenblatt,D.S. and Jerome-Majewska,L.A.
  TITLE     The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are
            broadly expressed in placental and embryonic tissues during mouse
            organogenesis
  JOURNAL   Mol Genet Metab 107 (3), 368-374 (2012)
   PUBMED   23022071
  REMARK    GeneRIF: The mouse methylmalonic aciduria- related genes, Mmaa,
            Mmab, and Mut may have specialized functions depending on the
            tissue or cell type.
REFERENCE   4  (bases 1 to 5675)
  AUTHORS   Bailey,P.J., Klos,J.M., Andersson,E., Karlen,M., Kallstrom,M.,
            Ponjavic,J., Muhr,J., Lenhard,B., Sandelin,A. and Ericson,J.
  TITLE     A global genomic transcriptional code associated with CNS-expressed
            genes
  JOURNAL   Exp Cell Res 312 (16), 3108-3119 (2006)
   PUBMED   16919269
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC101790.5.
            
            On May 19, 2018 this sequence version replaced NM_133823.4.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK050255.1, SRR10223969.8347.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##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
            1-48                AC101790.5         46451-46498
            49-526              AC101790.5         59758-60235
            527-649             AC101790.5         63088-63210
            650-820             AC101790.5         67138-67308
            821-906             AC101790.5         70437-70522
            907-1056            AC101790.5         72130-72279
            1057-5675           AC101790.5         73197-77815
FEATURES             Location/Qualifiers
     source          1..5675
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 37.51 cM"
     gene            1..5675
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /note="methylmalonic aciduria (cobalamin deficiency) type
                     A"
                     /db_xref="GeneID:109136"
                     /db_xref="MGI:MGI:1923805"
     exon            1..48
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            49..526
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1344
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /note="isoform a precursor is encoded by transcript
                     variant 2; methylmalonic aciduria type A homolog,
                     mitochondrial"
                     /codon_start=1
                     /product="methylmalonic aciduria type A homolog,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_598584.2"
                     /db_xref="CCDS:CCDS22436.1"
                     /db_xref="GeneID:109136"
                     /db_xref="MGI:MGI:1923805"
                     /translation="MTISTLLLSPNRRLLTCLSRVPSPWLLHSSHPAPGPPGALPNCF
                     GHHCTKRVLLSDGFRRTLCVQATLKDHTEGLSDKEQRFVDRLYTGLVKGQRACLAEAI
                     TLVESTHTRKRELAQVLLQRVLALQREQELRNQGKPLTFRVGLSGPPGAGKSTFIECF
                     GKMLTEQGHRLSVLAVDPSSCTSGGSLLGDKTRMIELSRDMNAYIRPSPTSGTLGGVT
                     RTTNEAIVLCEGGGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGI
                     IEMADLVVITKSDGDLIVPARRIQAEYVSALKLLRRRSEVWRPKVIRISARSGEGITE
                     MWDTMREFQHQMLASGELAAKRQTQHKVWMWNLIQENVLEHFKTHPSIREQIPLMERK
                     VLSGALSPGRAADLLLKAFKSRH"
     exon            527..649
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            650..820
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            821..906
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1056
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..5675
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1343..1348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1365
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /note="major polyA site"
     regulatory      2827..2832
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /note="hexamer: CATAAA"
     polyA_site      2850
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
     regulatory      5653..5658
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
                     /note="hexamer: AATAAA"
     polyA_site      5675
                     /gene="Mmaa"
                     /gene_synonym="2810018E08Rik"
ORIGIN      
        1 ggagcagtgg gcggaagggg cggtgctctg ctgcgcggcc tcgcgagggc cattcataaa
       61 tcacactaag tcagaaagta tccggttaca gacaaaatga ctatttccac gctgctactt
      121 tctcctaatc ggcgtttact aacctgcctc tcaagagtgc cttccccatg gctccttcac
      181 tcaagtcacc ctgcaccggg acccccaggt gctctgccaa actgttttgg acaccattgt
      241 actaagaggg tgctactgtc tgacggcttc aggagaacat tatgtgtcca ggcaaccttg
      301 aaggaccaca cagaaggact ttctgataaa gaacaaagat ttgtggatag actttatacg
      361 ggtttagtga aaggacagag agcttgccta gcggaggcca taactctcgt ggaatcaacc
      421 catacaagga agagggagct ggctcaggtg cttctgcaga gagtcttagc cctccagcgg
      481 gagcaggagc tgcggaacca aggaaagccc ctcacatttc gagtaggact gtccgggccc
      541 cctggtgcag gaaaatcaac attcatagaa tgttttggga aaatgctgac tgagcaaggg
      601 cacaggttat ctgtgctagc tgtggatcca tcttcttgca ccagtggtgg gtccctctta
      661 ggtgataaaa cccggatgat tgagctgtca agagatatga atgcctacat caggccctct
      721 cctaccagtg ggactctagg aggagtgaca aggaccacaa atgaagccat tgtgttgtgt
      781 gaaggagggg gctatgacat cattcttatt gaaaccgtcg gtgtagggca gtcggagttt
      841 gctgtggctg acatggtcga tatgtttgtt ttattgctgc caccagcagg aggggatgaa
      901 ctgcagggca tcaaaagggg catcattgaa atggcagatt tggttgttat aactaaatct
      961 gatggagact tgattgtgcc agcccgcagg atccaagcag agtacgtgag cgcactcaag
     1021 ttgctccgta ggcgctcgga agtctggagg ccaaaggtga ttcgcatttc tgccagaagt
     1081 ggagagggca tcactgagat gtgggacaca atgagagagt ttcagcacca aatgctggcc
     1141 agtggggagc tggctgccaa gagacagaca cagcacaaag tctggatgtg gaatctcatt
     1201 caggaaaacg tcctagaaca cttcaagacc caccccagca tccgagaaca gatccccctg
     1261 atggagagaa aggtcctcag tggagccctc tccccaggac gagcagcaga cttgttgcta
     1321 aaagctttta aaagcagaca ctaataaatt tatcctgtgc gatcactttg tagagtttcc
     1381 ctgagtgctg aatatccaaa atatcacctg tgtgtttatc tgttacacct gtgtaatgcc
     1441 ccagctggga actgcttgta accttgaagc tgtgggtggt gtggtcagac acacagcatc
     1501 taggagaccc tgctgtgtag gactggttcc actgtatccc ttctttatgc cctgacatgc
     1561 tagcctgcta agtagtttct tctcaagact caaaagtgga ggaagcttgg gaggagaaag
     1621 aagaccttac attttgaaat ggttacatca agtctctgtt ctctgaattg ccagagaaaa
     1681 tataagccag aatgaccaca tttctgaaaa cttatttgag gccagaacaa cacacaccag
     1741 gtttcttgga attgaaagtc ctgattggca tttagtgtac cagactattc taagaatttc
     1801 tgaagtggcc atgtatactt gtaacaagac acctggaatg atgtgagtcc agtttttaaa
     1861 ctccacttgg ctcgacttgg tgccctcgcc atgacagcgg aaagggaaaa tgagctacag
     1921 aattgggccc caagttccct agagactcag gtagaattag gacagttcag ggtcactcag
     1981 tttgaaaatt atgaactatt tctgtttcta cttgccttgg ccaatttact tcacattaga
     2041 cctacttttg tgtgtgtgca tatgtaagtg tgtaaacaca cactgtgtat acttgcgtgt
     2101 ggtggcagca ggtcatcact gggtatgttt gtgttctact gctgtccact tgctttgtgt
     2161 ttgagacagc atcttactat gtagccctaa ctggccttga actcatgctg tagatcaggc
     2221 caatcttgaa ctcagatcca cctggctctg cctcctcaat gctgagataa aggtgtgcac
     2281 caccctgcct ggcttatcca cctttctttt taaaagaaaa tgtctctgaa tatgaaactt
     2341 agcaattcag ctagccccag ggtcctgtcc tctctgcccc tacagcatta cagtggtgga
     2401 ttatgggtac aaagcatgat acccagcttt gtgtgggtcc tgaggtccta agggtcctaa
     2461 acttggaccc ttaggcttac atagctagca ctttccaaac tgagctgtgt ccccacagaa
     2521 aaaaaaagta cattttcttg atgctgaaga acagatgagg tctacagagg aagtacatag
     2581 caaggactac aaggctaacc tctcaggtta ggctttgtgt ttaaaccaga ccctatcaac
     2641 tactctaagc ctgaacattg taacctaaca tgtaggcttc agtttcttac ctggcaaaat
     2701 ggggttggtg gataactatg gagttggtaa ggattaaatt attcaggaaa atgatttcat
     2761 tatcatggag gcatatagga aatattgttt gctgttttat gctaaagttg tggatcccta
     2821 aagctacata aaccttattt ataattttaa tttctccatg gtcttattac tatcatcatg
     2881 ttctgatgat attttataat tgcctttaca accccagctc tgcttaattc tttgaatgac
     2941 ttaaactatt tgatggtagt tacaactatg tacatttggg taaaattatt tctaggtata
     3001 aaatttctcc caaataaaac accctttcag cagttttaca catactgtat tctggactct
     3061 ttaggatatt ttacacaatg tgtcagcatt actctttcca accatactgg ttcctaccta
     3121 aaatcaaatt tgagtgctaa caagcactca ttgatattta tgtaagatct gtgtgcttgg
     3181 catacctgta ttatagatgt aggttataag atgctcaggc aggtgagcca ggagagtttc
     3241 ttgatttgag aaaggaccac cattaaacct atcagatgaa aactggatgc ttagaaatgt
     3301 ccagagtggg catctcataa tttctcttaa ataagctatt gcaaggaata actacctgcc
     3361 ctggtggtat cagtagtgac agggtgccac tgcattgtaa agaaagctag aaggggtggg
     3421 tggcttctat cagcactaaa tttagcaagg tgatctccat ttgatcttca taccctttga
     3481 aatgacgcat atgtagttat aaaactatga aatatgcccc tccccctcct gtggctcttg
     3541 tgccacaggc tgggagacac caaactctca aagatttttc acccgttctt tggtttgcta
     3601 tactacagta gtatttatag ggtttttttc tttaagtctg cttcatttta ctaagctcaa
     3661 taattcttgc ctttccattt gtccccaaca ggagttctac agtagttcta ttgggcatct
     3721 ggcctgttca aatgcagcag tttcgaattg ctgtgtgttg atgtaactct atcacgtacc
     3781 agacaagcaa gttaggaaaa ttagttctcc acgtttacca attctcttat ctgtaaaagt
     3841 ttggtacagt agctacttta gacatctctc agagaaatga gaactgacgt ggttggtact
     3901 tgacaatggg caggcagtgg ttaaaatgtt acacataaat gttcatcata gctctctccc
     3961 actacagacc ttcagttcct ttcagatgga ccagactact taatctgata gttgctcagt
     4021 cttcccacag ttaagtgaaa atgacgatcc tgtggtggtt atactaattg tcaatttgat
     4081 gactttttaa tcacctagag acacatctct gaccatgtat ttgagggcat ttccagagaa
     4141 cttaggctga atctcacagt aaatgtgaat gctaccatcc catgggctgg atctggaact
     4201 gaataataaa gaaaaagcca gctgtttgac caatcacttg tgctctggcc actacacttg
     4261 cagcaactct tatagtaact aatactgtgc catcaaccag agctgtatgc ggagtatctg
     4321 gatactgtta ttggagaata aatagcagtt acctcttagg aagcttcagg gtcaaatgag
     4381 tacagtcttc ctccatttta aaaggatagt ttttttctag aaaaaaattc ttacaggtta
     4441 gtttcattag ttaaaaatat agctatcagg gcaggagaga tgtctcagtg attaagaaca
     4501 attggtattc ttgaagagga ctccgttcag ctcccagtcc ctgggtggtg attttcaaac
     4561 atctgtaagt aggaatctga tgctttcttc tgacttattc agacacgtgg catgcacgga
     4621 gcacatatac atatatgcag gcaaagctca cagacatact tttttaaaga caaagtaaat
     4681 gggggagatc tcagcatagt ggtacccacc tttaatccaa gtacttggga agcagaagca
     4741 gggaagggta aggcagagta gaatatacaa aaaaccatgg gaaaagatca agatatgcta
     4801 catacatgtt atggattcca aggagaggag gagaggaaat catttctgaa attcctgtta
     4861 gaattcaatt atttttgttt ttggagacaa ggtctctgta gtctggcctg gcctgaagcc
     4921 tgcgtgcctg gcttttgttt tgttttgttt tgttttgttt tgttttgtgt tgctgtgttg
     4981 ttgttgttgt tgtttttgag acagggtttc tctgtgtagg tgcttacata cttcaagata
     5041 gtaccagaat tataagcaac atgaacactc actgaataac acaactaact aacaaagtgc
     5101 tatccctttg gtaagacaga aaatgttggc aaattgaaat ctttcttgat gaacaacaac
     5161 caggaagttt ctaagatatt ttaatttcta ctttatttcc ttggttagtc aattactaaa
     5221 cttaaggtct tttttaaaat cctacttgga gtgaacactg aatgatagtt actgtcccat
     5281 gaagctcaaa gttttggttg atttatttgc ttgtcattta tggtataaaa tataaatagc
     5341 ataaaaataa ttggattgaa tatgatagac ttatttgtga gtataaaatg tggatgacat
     5401 gggttaaagt acattaatat ttacacctga tgtgtggtaa gatataaagc aatagtataa
     5461 attgggacaa ttgatcttgt tggccacttt agtctcctga aggagtgaag tgaaggtgtg
     5521 tatacgcaca aaaattcttc tactcttagc aaaattaagt gtttaaacta atgttatttt
     5581 taactaacag aagaaatcct gtgatgtcat catcaaaagt gtggagaaaa ttctatagct
     5641 atctagaaga ataataaagc cacttcttag cctta
//
