LOCUS       NM_001375644            6186 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens metabolism of cobalamin associated A (MMAA),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001375644 XM_011531685
VERSION     NM_001375644.1
KEYWORDS    RefSeq.
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 6186)
  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   2  (bases 1 to 6186)
  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 6186)
  AUTHORS   Lin,Y., Lin,C., Lin,W., Zheng,Z., Han,M. and Fu,Q.
  TITLE     Mild clinical features of isolated methylmalonic acidemia
            associated with a novel variant in the MMAA gene in two Chinese
            siblings
  JOURNAL   BMC Med Genet 19 (1), 114 (2018)
   PUBMED   29996803
  REMARK    GeneRIF: The two siblings were associated with the MMAA c.365T>C
            variant.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6186)
  AUTHORS   Takahashi-Iniguez,T., Gonzalez-Noriega,A., Michalak,C. and
            Flores,M.E.
  TITLE     Human MMAA induces the release of inactive cofactor and restores
            methylmalonyl-CoA mutase activity through their complex formation
  JOURNAL   Biochimie 142, 191-196 (2017)
   PUBMED   28943303
  REMARK    GeneRIF: localization of hMMAA and its colocalization with hMCM in
            human
REFERENCE   5  (bases 1 to 6186)
  AUTHORS   Padovani,D., Labunska,T. and Banerjee,R.
  TITLE     Energetics of interaction between the G-protein chaperone, MeaB,
            and B12-dependent methylmalonyl-CoA mutase
  JOURNAL   J Biol Chem 281 (26), 17838-17844 (2006)
   PUBMED   16641088
REFERENCE   6  (bases 1 to 6186)
  AUTHORS   Lerner-Ellis,J.P., Dobson,C.M., Wai,T., Watkins,D., Tirone,J.C.,
            Leclerc,D., Dore,C., Lepage,P., Gravel,R.A. and Rosenblatt,D.S.
  TITLE     Mutations in the MMAA gene in patients with the cblA disorder of
            vitamin B12 metabolism
  JOURNAL   Hum Mutat 24 (6), 509-516 (2004)
   PUBMED   15523652
  REMARK    GeneRIF: DNA from 37 cblA patients was analyzed for deleterious
            mutations in the MMAA gene by DNA sequencing of exons and flanking
            sequences
            Erratum:[Hum Mutat. 2005 Mar;25(3):317]
REFERENCE   7  (bases 1 to 6186)
  AUTHORS   Yang,X., Sakamoto,O., Matsubara,Y., Kure,S., Suzuki,Y., Aoki,Y.,
            Suzuki,Y., Sakura,N., Takayanagi,M., Iinuma,K. and Ohura,T.
  TITLE     Mutation analysis of the MMAA and MMAB genes in Japanese patients
            with vitamin B(12)-responsive methylmalonic acidemia:
            identification of a prevalent MMAA mutation
  JOURNAL   Mol Genet Metab 82 (4), 329-333 (2004)
   PUBMED   15308131
  REMARK    GeneRIF: The 503delC mutation is prevalent in Japanese patients
            with methylmalonic acidemia.
REFERENCE   8  (bases 1 to 6186)
  AUTHORS   Dobson,C.M., Wai,T., Leclerc,D., Wilson,A., Wu,X., Dore,C.,
            Hudson,T., Rosenblatt,D.S. and Gravel,R.A.
  TITLE     Identification of the gene responsible for the cblA complementation
            group of vitamin B12-responsive methylmalonic acidemia based on
            analysis of prokaryotic gene arrangements
  JOURNAL   Proc Natl Acad Sci U S A 99 (24), 15554-15559 (2002)
   PUBMED   12438653
  REMARK    GeneRIF: A candidate gene for mutations (deletion, insertion,
            stop-codon, missense)in cblA patient cells was identified as MMAA
            on chromosome 4q31.1-2. It encodes a predicted protein of 418 AA.
REFERENCE   9  (bases 1 to 6186)
  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   10 (bases 1 to 6186)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093864.3.
            
            On Oct 30, 2019 this sequence version replaced XM_011531685.2.
            
            Summary: The protein encoded by this gene is involved in the
            translocation of cobalamin into the mitochondrion, where it is used
            in the final steps of adenosylcobalamin synthesis.
            Adenosylcobalamin is a coenzyme required for the activity of
            methylmalonyl-CoA mutase. Defects in this gene are a cause of
            methylmalonic aciduria. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803617.177528.1,
                                           SRR1803615.689.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-265               AC093864.3         37512-37776
            266-769             AC093864.3         57202-57705
            770-892             AC093864.3         60490-60612
            893-1063            AC093864.3         64113-64283
            1064-1149           AC093864.3         69189-69274
            1150-1299           AC093864.3         72121-72270
            1300-6186           AC093864.3         73274-78160
FEATURES             Location/Qualifiers
     source          1..6186
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     gene            1..6186
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="metabolism of cobalamin associated A"
                     /db_xref="GeneID:166785"
                     /db_xref="HGNC:HGNC:18871"
                     /db_xref="MIM:607481"
     exon            1..265
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            266..769
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     CDS             331..1587
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="methylmalonic aciduria type A protein,
                     mitochondrial; methylmalonic aciduria (cobalamin
                     deficiency) cblA type; mutant adenosylcobalamin"
                     /codon_start=1
                     /product="methylmalonic aciduria type A protein,
                     mitochondrial precursor"
                     /protein_id="NP_001362573.1"
                     /db_xref="CCDS:CCDS3766.1"
                     /db_xref="GeneID:166785"
                     /db_xref="HGNC:HGNC:18871"
                     /db_xref="MIM:607481"
                     /translation="MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPF
                     NSLGLHCTKWMLLSDGLKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLA
                     EAITLVESTHSRKKELAQVLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFI
                     EYFGKMLTERGHKLSVLAVDPSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLG
                     GVTRTTNEAILLCEGAGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIK
                     RGIIEMADLVAVTKSDGDLIVPARRIQAEYVSALKLLRKRSQVWKPKVIRISARSGEG
                     ISEMWDKMKDFQDLMLASGELTAKRRKQQKVWMWNLIQESVLEHFRTHPTVREQIPLL
                     EQKVLIGALSPGLAADFLLKAFKSRD"
     exon            770..892
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1063
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1149
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1299
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..6186
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1625..1630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="hexamer: CATAAA"
     polyA_site      1647
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="major polyA site"
     regulatory      2845..2850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="hexamer: AATAAA"
     polyA_site      2866
                     /gene="MMAA"
                     /gene_synonym="cblA"
     regulatory      6164..6169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="hexamer: GATAAA"
     polyA_site      6186
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="major polyA site"
ORIGIN      
        1 ggcacttccg tggcttcggg cgggtgagta tggggagtgc gcgcggcgtc caggagtcgg
       61 gactgggctc ccgcctacgg ccgccctccc gccggggggc cagcgcggtc ctccggggcg
      121 ccccctggag gatttggggt gggggaagga aaaggagagt attatcgaat attctcctaa
      181 tattgatgtt cggggtgcgg atatgtgtgg acaggcagga gtcggcaaat gggttcaaat
      241 ggaagcttta acaaagaaag gccctggagg tcacaatcac attgagccaa aacgcatcca
      301 gtgttttctc cagttacaaa taaaacgaat atgcccatgc tgctaccaca tcctcaccag
      361 catttcctaa aaggcctttt aagagcacct ttccgatgtt accacttcat ctttcactca
      421 agtactcatc tcggatcagg aatcccatgt gctcagccgt ttaattctct tggactccat
      481 tgtacaaagt ggatgctgct gtcagatggc ttaaagagaa aattatgtgt acaaacaacc
      541 ttaaaggacc acacagaagg actttctgat aaagagcaaa gatttgtgga taaactttat
      601 actggtttaa tccaagggca aagggcctgt ttagcagagg ccataactct tgtagaatca
      661 actcacagca ggaaaaagga gttagcccag gtgcttcttc agaaagtatt actttaccac
      721 agagaacaag aacaatcaaa taaaggaaaa ccactagcat ttcgagtagg attgtctggg
      781 ccccctggtg ctggaaaatc aacatttata gaatattttg gaaaaatgct tactgagaga
      841 gggcacaaat tatctgtgct agctgtggac ccttcttctt gtactagtgg tggatcactc
      901 ttaggtgata aaacccgaat gactgagtta tcaagagata tgaatgcata catcaggcca
      961 tctcctacta gaggaacttt aggaggcgtg acaaggacca caaatgaagc tattctgttg
     1021 tgtgaaggag cgggatatga cataattctt attgaaaccg ttggtgtggg tcagtcggag
     1081 tttgctgttg ctgacatggt tgacatgttt gttttactac tgccaccagc aggaggagat
     1141 gagctgcagg gtatcaaaag gggtataatc gagatggcag atctggtagc tgtaactaaa
     1201 tctgatggag acttgattgt gccagctcga aggatacaag cggaatatgt gagtgcactg
     1261 aaattactcc gcaaacgttc acaagtctgg aaaccaaagg taattcgtat ttctgcccga
     1321 agtggagagg ggatctctga aatgtgggat aaaatgaaag atttccagga cctaatgctt
     1381 gccagtgggg agctgactgc caaacgacgg aagcaacaga aagtttggat gtggaatctc
     1441 attcaggaaa gtgtgttaga gcatttcagg acccacccca cagtccggga acagattcca
     1501 cttctggaac aaaaggttct cattggggcc ctgtccccag gactagcagc agacttcttg
     1561 ttaaaagctt ttaaaagcag agactaataa aattcatcct gtataataat tttacatatc
     1621 atttcataaa gtattttaat agaaaaatca cttgtatgct tatattttca gtaattattg
     1681 tatggtgctc ttgtcttctt tgtttgtgac ccatgcttga aaacttgaag gaagttagat
     1741 atgaatggca aaagttaggc agtatttata aggtacctgt tttatgttac tgatatctgt
     1801 ttccttctct tcttataccc tggcatggtg gcctgtaggg tagtttcttc ttaatagtca
     1861 agaacagaga aagctgagga gagcagaaaa tatcttgcac tttaaaatgc ttattttgat
     1921 tccatattat ctgaatttcc agagaggatg taaacaagag tgaccatatt tttggagtcc
     1981 ttcttgaagc cagaacaaca cacagtgggt tgctaagagc cgacaatcat aattgacatt
     2041 tagtgtacca gattattcta agaatttctg aaattaccat gtacatgagt aatgaaacaa
     2101 ctggaataat gtgatgatgt gaacacaatt ttaaagtctg cttgtctgga tttgcaggta
     2161 cccttccgcc accccccaac atgataggta agagagcaaa agggaactgg gaaaaatcag
     2221 ctacaaataa aatgggtgac taatccccag ttcttggacc cattatattt gtagccaatt
     2281 ggagtaaacc cctaaaagac aaagtgaggt cagaatgatt caaggattat tcagtttgaa
     2341 gactaccaaa ggcttttgct tctcttcttc cttggccatt tcacttcatt ttagtatttt
     2401 aaaaatcttt tttcttgatg gtgaacaagt tttgtcctat gctatggagg aggcatagca
     2461 cagtgattaa gagcttgggc tctgtagttg gactatgtgg gtttaaactt taaacccaga
     2521 tcaattgtat attagctaca tgagctaatc tctttaagct tccatttcct ccctggtaaa
     2581 atgaaattgg caaataactt tctaaggtta gtgaagatag gaaatactcg aaggctgctt
     2641 actatcctta ttacattaaa gttatgggta tcttgaaact acaaacctga tgtataattt
     2701 cagttttctc tcatggtctt gttactacca tcatactctt gatattttag gatactttag
     2761 gattaccttt gaagaaccct ttctagttaa ttctttgaat atgttttata cttatttgat
     2821 ggtagttgta actgtgtaca tttgaataaa atttctaacc ataaaatttc gccattgcac
     2881 aaaaagcctt tatagaagtt tctaacatat tctattctga accctgtaga atattttatg
     2941 tagtatagca gcttgcattg ttacttactg tactggaatc aaacctcttg agcattattt
     3001 taacaaacat ccctttacat tttttggaaa gatttttagt actccattgg catagctatt
     3061 tcatacaagg attaggagaa actttgaaag gttatccact tgacttttct gattttagaa
     3121 aggactacca ttaaaccacc ctatcagaca aaaaaaactg gtttttagaa acctgagaga
     3181 aggaatttta taatttccct gagtaagctg ttacagggaa taacaaatct cctgccacat
     3241 gtggcacagt gtaagtaatg ctggagcaca catactgcat tgtaaagaag gtaggaaagg
     3301 tggggggact tttgttagct ttaattttaa ggctaaaagc atttcttctc agtttgaact
     3361 acttttaaat gttataaatg tcatcataaa aatcattaga aaactcattt ctccttatgt
     3421 tgtcgttgta ccattgggta ttgtatagag accaatttct aagagatttt ttcacctctg
     3481 tttctgttat ttgctatact ggaggtaata taataataat gaaatatagc tttttttttc
     3541 aactcagaaa tcctattccc tctccccatc tgtgattata ttgtactgga cttctgactt
     3601 ggtcaaaagc ataggttttg acttagatac atgtgggggc agatctcagc tctatcacta
     3661 actagctata tgatatttgg caagtttttt ctctatgtgc agtagtttct ttatctgtaa
     3721 aattaagata atagctactt tacagggttg gaagaattaa tttagaaatt gtacagtgct
     3781 tagcctcaat aattggtagg tggtggtgta aatattttac atagatactt gtgacagttc
     3841 tttgttctac aaaacagact aatattaatt tcagattggc caagctactt aatttctctg
     3901 tgcctcagtt tcctcactat taaatgggga tgacaatagt gtccacctag agcaggacta
     3961 ttttagtatt acatataatc cttggatata aatgctgatg aagtttggat atttgtcccc
     4021 acccaagtct catgttgaaa tgtaatcccc aatcttggag gtggagcctg gtgggaggtg
     4081 tatggattag atcagatctc tcatgaatga cttgggccat cctttgggtg gtaagtgagc
     4141 tcttgctccg agttcacacg aggtctagat ctggtcattt aaaagtgtgt ggcatctccc
     4201 catccctcac tctatcactt gctcctactt tcgtcatatg acatgcctgc tcccctttca
     4261 ccttctgcca tgattgtaag cttcctgagg cctccctaga agctgagcag atgccagcac
     4321 catgcttcct gtagtctgta gaaccataag ccaaataaac atcttttctt tataaattta
     4381 taaattaccc agtcgcagat atttatagaa agaacagcct aatacaggtg ctaaatacat
     4441 atctgacaat aaatggtagt tatctcttag aactgttatg aggattaaac gagttacagt
     4501 gtccatctta aaaagataat tctgaaaaaa atctcatagg ttcactttgc cttgtcaaga
     4561 atatgattac cattaacttc tgtagatagg aaaaaaatgt gctgagctcc aaaactgaca
     4621 gacattttgc taaaacaata tcaaatctca ttaaaatgat gacagttatt tcaatagttg
     4681 acagtagcta tcccaataca acctaacaag gcattttctc ttcagaatca ctcgatcata
     4741 tggccatttc cctaagcttt tatagctatt gcccagtgta cactgaagac aacagctaac
     4801 gaacaacata cgtgtgataa tttatgtagt tgaacctcta aggcaaaaaa aaaaaaaaaa
     4861 aggaaaaatt agtgaaaatc attcaaacat tatgctcacc aggtagactg ccatcataga
     4921 agtcctaatg ctactgctaa aaactagtaa actaccagta aactgtgaag acagaagtaa
     4981 ctcctgtgat ctatatgttt gtgcagatgg tggagctttt ctgctcctaa agcctgagaa
     5041 atgcaaatgt ggcttcgtta atgcaaatgc ttcctacgcc agactttatg aaactcctcc
     5101 taaagttgaa ttcttatcca agtggacata tgttagggtg ccattgtaat tcaggtagag
     5161 tgtcagagtg gtggctggca ccaacggtag atgttctcaa cattagcgtt attcaggtaa
     5221 gactacaaca atgatgaaca tgtcaaaact ttcctttaaa aggaacaatc agaaaaactc
     5281 tttaacaaat gtttttcttt ccgtagtatt ttaattaaaa tttttaaaat tttaaaattt
     5341 actaaattta tgaacgtttt tatcccactt gagatgaata cttatttata gtccctgtcc
     5401 catgaagctt ctgtggattt gctttgtttg tcatttgtgg tatgtttgat aacaaaaata
     5461 ttagtggcac aaaagcagtt atattgaatg cttttgtttt agagaaaatt tcactctgta
     5521 ctagaaaatg tagatgatgt gagtcaaagt tcattaatat ttacctgaaa atttgtgtat
     5581 aaaggtaacc ttggggcagt ttattttgct tagacccctc agcttcttga tagagtgagg
     5641 tgagggcata tgtaagtcag taaactattc tgttagtaaa gtcaaaggcg taatctaaat
     5701 taattatgct tttaactaac acagaagaaa tcatgtgacc tcattctcaa agctcgtaac
     5761 atccacctgg ccaatcttaa gatgtggata gagttctttt ttttcttttt tcaattttta
     5821 caataatttt tgacacattg aagctgtgca tgtttatggg ggcacaattt gatgtttcaa
     5881 tacatgtata tgttgtgtaa tgatcaaatc ggagtactta gcatatctat catctcgtgc
     5941 atttatcatt tctttgtggc gagaacattt aaaaatccta ttttctagct attttgtaat
     6001 atacactacc ttactgttgc gaaccatagt caccctactg tgcaatagaa cacctgaact
     6061 tattcctcct atctagttgt aactttgtac ccattgaccc cccttccctt ccttccactc
     6121 tcccctcccc agtctctggt aaccactgtt ctgttcccta tgagataaaa ctttttttgt
     6181 cttcca
//
