LOCUS       NM_172250               5944 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens metabolism of cobalamin associated A (MMAA),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_172250
VERSION     NM_172250.3
KEYWORDS    RefSeq; MANE Select.
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 5944)
  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 5944)
  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 5944)
  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 5944)
  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 5944)
  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 5944)
  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 5944)
  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 5944)
  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 5944)
  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 5944)
  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 and AK126662.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 25, 2018 this sequence version replaced NM_172250.2.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR1803611.7941.1, AK126662.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000649156.2/
                                                  ENSP00000497008.1
            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
            1-3                 AC093864.3         37512-37514
            4-1952              AK126662.1         1-1949
            1953-5944           AC093864.3         74169-78160
FEATURES             Location/Qualifiers
     source          1..5944
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     gene            1..5944
                     /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..23
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            24..527
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1345
                     /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_758454.1"
                     /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            528..650
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            651..821
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            822..907
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1057
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..5944
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1383..1388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="hexamer: CATAAA"
     polyA_site      1405
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="major polyA site"
     regulatory      2603..2608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="hexamer: AATAAA"
     polyA_site      2624
                     /gene="MMAA"
                     /gene_synonym="cblA"
     regulatory      5922..5927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="hexamer: GATAAA"
     polyA_site      5944
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /note="major polyA site"
ORIGIN      
        1 ggcacttccg tggcttcggg cggggaggtc acaatcacat tgagccaaaa cgcatccagt
       61 gttttctcca gttacaaata aaacgaatat gcccatgctg ctaccacatc ctcaccagca
      121 tttcctaaaa ggccttttaa gagcaccttt ccgatgttac cacttcatct ttcactcaag
      181 tactcatctc ggatcaggaa tcccatgtgc tcagccgttt aattctcttg gactccattg
      241 tacaaagtgg atgctgctgt cagatggctt aaagagaaaa ttatgtgtac aaacaacctt
      301 aaaggaccac acagaaggac tttctgataa agagcaaaga tttgtggata aactttatac
      361 tggtttaatc caagggcaaa gggcctgttt agcagaggcc ataactcttg tagaatcaac
      421 tcacagcagg aaaaaggagt tagcccaggt gcttcttcag aaagtattac tttaccacag
      481 agaacaagaa caatcaaata aaggaaaacc actagcattt cgagtaggat tgtctgggcc
      541 ccctggtgct ggaaaatcaa catttataga atattttgga aaaatgctta ctgagagagg
      601 gcacaaatta tctgtgctag ctgtggaccc ttcttcttgt actagtggtg gatcactctt
      661 aggtgataaa acccgaatga ctgagttatc aagagatatg aatgcataca tcaggccatc
      721 tcctactaga ggaactttag gaggcgtgac aaggaccaca aatgaagcta ttctgttgtg
      781 tgaaggagcg ggatatgaca taattcttat tgaaaccgtt ggtgtgggtc agtcggagtt
      841 tgctgttgct gacatggttg acatgtttgt tttactactg ccaccagcag gaggagatga
      901 gctgcagggt atcaaaaggg gtataatcga gatggcagat ctggtagctg taactaaatc
      961 tgatggagac ttgattgtgc cagctcgaag gatacaagcg gaatatgtga gtgcactgaa
     1021 attactccgc aaacgttcac aagtctggaa accaaaggta attcgtattt ctgcccgaag
     1081 tggagagggg atctctgaaa tgtgggataa aatgaaagat ttccaggacc taatgcttgc
     1141 cagtggggag ctgactgcca aacgacggaa gcaacagaaa gtttggatgt ggaatctcat
     1201 tcaggaaagt gtgttagagc atttcaggac ccaccccaca gtccgggaac agattccact
     1261 tctggaacaa aaggttctca ttggggccct gtccccagga ctagcagcag acttcttgtt
     1321 aaaagctttt aaaagcagag actaataaaa ttcatcctgt ataataattt tacatatcat
     1381 ttcataaagt attttaatag aaaaatcact tgtatgctta tattttcagt aattattgta
     1441 tggtgctctt gtcttctttg tttgtgaccc atgcttgaaa acttgaagga agttagatat
     1501 gaatggcaaa agttaggcag tatttataag gtacctgttt tatgttactg atatctgttt
     1561 ccttctcttc ttataccctg gcatggtggc ctgtagggta gtttcttctt aatagtcaag
     1621 aacagagaaa gctgaggaga gcagaaaata tcttgcactt taaaatgctt attttgattc
     1681 catattatct gaatttccag agaggatgta aacaagagtg accatatttt tggagtcctt
     1741 cttgaagcca gaacaacaca cagtgggttg ctaagagccg acaatcataa ttgacattta
     1801 gtgtaccaga ttattctaag aatttctgaa attaccatgt acatgagtaa tgaaacaact
     1861 ggaataatgt gatgatgtga acacaatttt aaagtctgct tgtctggatt tgcaggtacc
     1921 cttccgccac cccccaacat gataggtaag agagcaaaag ggaactggga aaaatcagct
     1981 acaaataaaa tgggtgacta atccccagtt cttggaccca ttatatttgt agccaattgg
     2041 agtaaacccc taaaagacaa agtgaggtca gaatgattca aggattattc agtttgaaga
     2101 ctaccaaagg cttttgcttc tcttcttcct tggccatttc acttcatttt agtattttaa
     2161 aaatcttttt tcttgatggt gaacaagttt tgtcctatgc tatggaggag gcatagcaca
     2221 gtgattaaga gcttgggctc tgtagttgga ctatgtgggt ttaaacttta aacccagatc
     2281 aattgtatat tagctacatg agctaatctc tttaagcttc catttcctcc ctggtaaaat
     2341 gaaattggca aataactttc taaggttagt gaagatagga aatactcgaa ggctgcttac
     2401 tatccttatt acattaaagt tatgggtatc ttgaaactac aaacctgatg tataatttca
     2461 gttttctctc atggtcttgt tactaccatc atactcttga tattttagga tactttagga
     2521 ttacctttga agaacccttt ctagttaatt ctttgaatat gttttatact tatttgatgg
     2581 tagttgtaac tgtgtacatt tgaataaaat ttctaaccat aaaatttcgc cattgcacaa
     2641 aaagccttta tagaagtttc taacatattc tattctgaac cctgtagaat attttatgta
     2701 gtatagcagc ttgcattgtt acttactgta ctggaatcaa acctcttgag cattatttta
     2761 acaaacatcc ctttacattt tttggaaaga tttttagtac tccattggca tagctatttc
     2821 atacaaggat taggagaaac tttgaaaggt tatccacttg acttttctga ttttagaaag
     2881 gactaccatt aaaccaccct atcagacaaa aaaaactggt ttttagaaac ctgagagaag
     2941 gaattttata atttccctga gtaagctgtt acagggaata acaaatctcc tgccacatgt
     3001 ggcacagtgt aagtaatgct ggagcacaca tactgcattg taaagaaggt aggaaaggtg
     3061 gggggacttt tgttagcttt aattttaagg ctaaaagcat ttcttctcag tttgaactac
     3121 ttttaaatgt tataaatgtc atcataaaaa tcattagaaa actcatttct ccttatgttg
     3181 tcgttgtacc attgggtatt gtatagagac caatttctaa gagatttttt cacctctgtt
     3241 tctgttattt gctatactgg aggtaatata ataataatga aatatagctt tttttttcaa
     3301 ctcagaaatc ctattccctc tccccatctg tgattatatt gtactggact tctgacttgg
     3361 tcaaaagcat aggttttgac ttagatacat gtgggggcag atctcagctc tatcactaac
     3421 tagctatatg atatttggca agttttttct ctatgtgcag tagtttcttt atctgtaaaa
     3481 ttaagataat agctacttta cagggttgga agaattaatt tagaaattgt acagtgctta
     3541 gcctcaataa ttggtaggtg gtggtgtaaa tattttacat agatacttgt gacagttctt
     3601 tgttctacaa aacagactaa tattaatttc agattggcca agctacttaa tttctctgtg
     3661 cctcagtttc ctcactatta aatggggatg acaatagtgt ccacctagag caggactatt
     3721 ttagtattac atataatcct tggatataaa tgctgatgaa gtttggatat ttgtccccac
     3781 ccaagtctca tgttgaaatg taatccccaa tcttggaggt ggagcctggt gggaggtgta
     3841 tggattagat cagatctctc atgaatgact tgggccatcc tttgggtggt aagtgagctc
     3901 ttgctccgag ttcacacgag gtctagatct ggtcatttaa aagtgtgtgg catctcccca
     3961 tccctcactc tatcacttgc tcctactttc gtcatatgac atgcctgctc ccctttcacc
     4021 ttctgccatg attgtaagct tcctgaggcc tccctagaag ctgagcagat gccagcacca
     4081 tgcttcctgt agtctgtaga accataagcc aaataaacat cttttcttta taaatttata
     4141 aattacccag tcgcagatat ttatagaaag aacagcctaa tacaggtgct aaatacatat
     4201 ctgacaataa atggtagtta tctcttagaa ctgttatgag gattaaacga gttacagtgt
     4261 ccatcttaaa aagataattc tgaaaaaaat ctcataggtt cactttgcct tgtcaagaat
     4321 atgattacca ttaacttctg tagataggaa aaaaatgtgc tgagctccaa aactgacaga
     4381 cattttgcta aaacaatatc aaatctcatt aaaatgatga cagttatttc aatagttgac
     4441 agtagctatc ccaatacaac ctaacaaggc attttctctt cagaatcact cgatcatatg
     4501 gccatttccc taagctttta tagctattgc ccagtgtaca ctgaagacaa cagctaacga
     4561 acaacatacg tgtgataatt tatgtagttg aacctctaag gcaaaaaaaa aaaaaaaaag
     4621 gaaaaattag tgaaaatcat tcaaacatta tgctcaccag gtagactgcc atcatagaag
     4681 tcctaatgct actgctaaaa actagtaaac taccagtaaa ctgtgaagac agaagtaact
     4741 cctgtgatct atatgtttgt gcagatggtg gagcttttct gctcctaaag cctgagaaat
     4801 gcaaatgtgg cttcgttaat gcaaatgctt cctacgccag actttatgaa actcctccta
     4861 aagttgaatt cttatccaag tggacatatg ttagggtgcc attgtaattc aggtagagtg
     4921 tcagagtggt ggctggcacc aacggtagat gttctcaaca ttagcgttat tcaggtaaga
     4981 ctacaacaat gatgaacatg tcaaaacttt cctttaaaag gaacaatcag aaaaactctt
     5041 taacaaatgt ttttctttcc gtagtatttt aattaaaatt tttaaaattt taaaatttac
     5101 taaatttatg aacgttttta tcccacttga gatgaatact tatttatagt ccctgtccca
     5161 tgaagcttct gtggatttgc tttgtttgtc atttgtggta tgtttgataa caaaaatatt
     5221 agtggcacaa aagcagttat attgaatgct tttgttttag agaaaatttc actctgtact
     5281 agaaaatgta gatgatgtga gtcaaagttc attaatattt acctgaaaat ttgtgtataa
     5341 aggtaacctt ggggcagttt attttgctta gacccctcag cttcttgata gagtgaggtg
     5401 agggcatatg taagtcagta aactattctg ttagtaaagt caaaggcgta atctaaatta
     5461 attatgcttt taactaacac agaagaaatc atgtgacctc attctcaaag ctcgtaacat
     5521 ccacctggcc aatcttaaga tgtggataga gttctttttt ttcttttttc aatttttaca
     5581 ataatttttg acacattgaa gctgtgcatg tttatggggg cacaatttga tgtttcaata
     5641 catgtatatg ttgtgtaatg atcaaatcgg agtacttagc atatctatca tctcgtgcat
     5701 ttatcatttc tttgtggcga gaacatttaa aaatcctatt ttctagctat tttgtaatat
     5761 acactacctt actgttgcga accatagtca ccctactgtg caatagaaca cctgaactta
     5821 ttcctcctat ctagttgtaa ctttgtaccc attgaccccc cttcccttcc ttccactctc
     5881 ccctccccag tctctggtaa ccactgttct gttccctatg agataaaact ttttttgtct
     5941 tcca
//
