LOCUS       NP_758454                418 aa            linear   PRI 09-OCT-2024
DEFINITION  methylmalonic aciduria type A protein, mitochondrial precursor
            [Homo sapiens].
ACCESSION   NP_758454
VERSION     NP_758454.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 418)
  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  (residues 1 to 418)
  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  (residues 1 to 418)
  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  (residues 1 to 418)
  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  (residues 1 to 418)
  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  (residues 1 to 418)
  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  (residues 1 to 418)
  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  (residues 1 to 418)
  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  (residues 1 to 418)
  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 (residues 1 to 418)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..418
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
     Protein         1..418
                     /product="methylmalonic aciduria type A protein,
                     mitochondrial precursor"
                     /note="methylmalonic aciduria type A protein,
                     mitochondrial; methylmalonic aciduria (cobalamin
                     deficiency) cblA type; mutant adenosylcobalamin"
                     /calculated_mol_wt=39092
     transit_peptide 1..65
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q8IVH4.1)"
                     /calculated_mol_wt=7465
     mat_peptide     66..418
                     /product="Methylmalonic aciduria type A protein,
                     mitochondrial. /id=PRO_0000002285"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IVH4.1)"
                     /calculated_mol_wt=39092
     Region          86..418
                     /region_name="PRK09435"
                     /note="methylmalonyl Co-A mutase-associated GTPase MeaB"
                     /db_xref="CDD:236515"
     Site            order(120,123..124,226,272..273,276..281,305..306,
                     309..311,322)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349768"
     Site            order(151..158,289..290,292,328..330)
                     /site_type="active"
                     /db_xref="CDD:349768"
     CDS             1..418
                     /gene="MMAA"
                     /gene_synonym="cblA"
                     /coded_by="NM_172250.3:89..1345"
                     /db_xref="CCDS:CCDS3766.1"
                     /db_xref="GeneID:166785"
                     /db_xref="HGNC:HGNC:18871"
                     /db_xref="MIM:607481"
ORIGIN      
        1 mpmllphphq hflkgllrap frcyhfifhs sthlgsgipc aqpfnslglh ctkwmllsdg
       61 lkrklcvqtt lkdhteglsd keqrfvdkly tgliqgqrac laeaitlves thsrkkelaq
      121 vllqkvllyh reqeqsnkgk plafrvglsg ppgagkstfi eyfgkmlter ghklsvlavd
      181 pssctsggsl lgdktrmtel srdmnayirp sptrgtlggv trttneaill cegagydiil
      241 ietvgvgqse favadmvdmf vlllppaggd elqgikrgii emadlvavtk sdgdlivpar
      301 riqaeyvsal kllrkrsqvw kpkvirisar sgegisemwd kmkdfqdlml asgeltakrr
      361 kqqkvwmwnl iqesvlehfr thptvreqip lleqkvliga lspglaadfl lkafksrd
//
