LOCUS       NM_052845               4090 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens metabolism of cobalamin associated B (MMAB),
            transcript variant 1, mRNA.
ACCESSION   NM_052845
VERSION     NM_052845.4
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 4090)
  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 4090)
  AUTHORS   Goedeke,L., Canfran-Duque,A., Rotllan,N., Chaube,B., Thompson,B.M.,
            Lee,R.G., Cline,G.W., McDonald,J.G., Shulman,G.I., Lasuncion,M.A.,
            Suarez,Y. and Fernandez-Hernando,C.
  TITLE     MMAB promotes negative feedback control of cholesterol homeostasis
  JOURNAL   Nat Commun 12 (1), 6448 (2021)
   PUBMED   34750386
  REMARK    GeneRIF: MMAB promotes negative feedback control of cholesterol
            homeostasis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4090)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 4090)
  AUTHORS   Banerjee,R., Gouda,H. and Pillay,S.
  TITLE     Redox-Linked Coordination Chemistry Directs Vitamin B12 Trafficking
  JOURNAL   Acc Chem Res 54 (8), 2003-2013 (2021)
   PUBMED   33797888
REFERENCE   5  (bases 1 to 4090)
  AUTHORS   Leal,N.A., Olteanu,H., Banerjee,R. and Bobik,T.A.
  TITLE     Human ATP:Cob(I)alamin adenosyltransferase and its interaction with
            methionine synthase reductase
  JOURNAL   J Biol Chem 279 (46), 47536-47542 (2004)
   PUBMED   15347655
  REMARK    GeneRIF: Results describe two common polymorphic variants of
            ATP:cob(I)alamin adenosyltransferase that are found in normal
            individuals, and their interactions with methionine synthase
            reductase.
REFERENCE   6  (bases 1 to 4090)
  AUTHORS   Leal,N.A., Park,S.D., Kima,P.E. and Bobik,T.A.
  TITLE     Identification of the human and bovine ATP:Cob(I)alamin
            adenosyltransferase cDNAs based on complementation of a bacterial
            mutant
  JOURNAL   J Biol Chem 278 (11), 9227-9234 (2003)
   PUBMED   12514191
  REMARK    GeneRIF: report the identification of ATR cDNA as well as the
            corresponding gene; ATR expression is altered in cell lines derived
            from cblB methylmalonyl aciduria patients; propose that inborn
            errors in the ATR gene identified here result in methylmalonyl
            aciduria
REFERENCE   7  (bases 1 to 4090)
  AUTHORS   Dobson,C.M., Wai,T., Leclerc,D., Kadir,H., Narang,M.,
            Lerner-Ellis,J.P., Hudson,T.J., Rosenblatt,D.S. and Gravel,R.A.
  TITLE     Identification of the gene responsible for the cblB complementation
            group of vitamin B12-dependent methylmalonic aciduria
  JOURNAL   Hum Mol Genet 11 (26), 3361-3369 (2002)
   PUBMED   12471062
REFERENCE   8  (bases 1 to 4090)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   9  (bases 1 to 4090)
  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 4090)
  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 DA718661.1, BC011831.2,
            AC007570.23 and BI497024.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_052845.3.
            
            Summary: This gene encodes a protein that catalyzes the final step
            in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl),
            a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase.
            Mutations in the gene are the cause of vitamin B12-dependent
            methylmalonic aciduria linked to the cblB complementation group.
            Alternatively spliced transcript variants have been found.
            [provided by RefSeq, Apr 2011].
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            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 :: BC011831.2, SRR14038194.4382538.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 12471062; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000545712.7/
                                                  ENSP00000445920.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DA718661.1         50-56
            8-2355              BC011831.2         1-2348
            2356-3772           AC007570.23        50719-52135
            3773-4090           BI497024.1         161-478
FEATURES             Location/Qualifiers
     source          1..4090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..4090
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /note="metabolism of cobalamin associated B"
                     /db_xref="GeneID:326625"
                     /db_xref="HGNC:HGNC:19331"
                     /db_xref="MIM:607568"
     exon            1..158
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..777
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /EC_number="2.5.1.17"
                     /note="cob(I)yrinic acid a,c-diamide adenosyltransferase,
                     mitochondrial; ATP:cob(I)alamin adenosyltransferase;
                     methylmalonic aciduria type B protein; ATP:corrinoid
                     adenosyltransferase; aquocob(I)alamin vitamin B12s
                     adenosyltransferase; cilia and flagella associated protein
                     23; ATP:co(I)rrinoid adenosyltransferase MMAB;
                     methylmalonic aciduria (cobalamin deficiency) cblB type;
                     cob(II)alamin adenosyltransferase; cobinamide/cobalamin
                     adenosyltransferase; cob(II)yrinic acid a,c-diamide
                     adenosyltransferase; corrinoid adenosyltransferase MMAB"
                     /codon_start=1
                     /product="corrinoid adenosyltransferase MMAB precursor"
                     /protein_id="NP_443077.1"
                     /db_xref="CCDS:CCDS9131.1"
                     /db_xref="GeneID:326625"
                     /db_xref="HGNC:HGNC:19331"
                     /db_xref="MIM:607568"
                     /translation="MAVCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGD
                     RPQPSSKTPRIPKIYTKTGDKGFSSTFTGERRPKDDQVFEAVGTTDELSSAIGFALEL
                     VTEKGHTFAEELQKIQCTLQDVGSALATPCSSAREAHLKYTTFKAGPILELEQWIDKY
                     TSQLPPLTAFILPSGGKISSALHFCRAVCRRAERRVVPLVQMGETDANVAKFLNRLSD
                     YLFTLARYAAMKEGNQEKIYMKNDPSAESEGL"
     exon            159..220
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     exon            221..314
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     exon            315..372
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     exon            373..445
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     exon            446..543
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     exon            544..608
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     exon            609..668
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     exon            669..4090
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1087..1092
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /note="hexamer: AATAAA"
     polyA_site      1108
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /note="major polyA site"
     polyA_site      1251
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
     regulatory      4046..4051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /note="hexamer: AATAAA"
     regulatory      4063..4068
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
                     /note="hexamer: AATAAA"
     polyA_site      4068
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
     polyA_site      4090
                     /gene="MMAB"
                     /gene_synonym="ATR; cblB; CFAP23; cob"
ORIGIN      
        1 aggtcccgtc aagcagcctg gctcatggct gtgtgcggcc tggggagccg tcttggcctg
       61 gggagccgtc ttggcctgcg cgggtgcttc ggcgccgcca ggctcctgta tccccgtttc
      121 cagagccgcg gccctcaggg cgtggaagac ggggacaggc cacagccttc ctcgaagaca
      181 cccaggatcc ccaagattta caccaaaacg ggagacaaag ggttttctag taccttcaca
      241 ggagaaagga gacccaaaga tgaccaagtg tttgaagccg tgggaactac agatgaatta
      301 agttcagcta ttgggtttgc tctggaatta gtcacagaaa agggccatac atttgccgaa
      361 gagcttcaga aaatccagtg cacattgcag gacgtcggct cggccctggc gacaccatgc
      421 tcctcggccc gggaggctca cttaaagtat accacgttca aggcggggcc catcctggag
      481 ctggagcagt ggatcgacaa gtacaccagc cagctcccac cactcacggc cttcatcctg
      541 ccttcgggag gcaagatcag ctcggcgctg catttctgcc gggccgtgtg ccgccgggcc
      601 gagagacgtg tggtgcctct tgtccagatg ggagagaccg atgcgaacgt ggccaagttc
      661 ttaaacagac tcagtgacta tctcttcacg ctagccagat atgcagccat gaaggagggg
      721 aatcaagaga aaatatacat gaaaaatgac ccatcggccg agtctgaggg actctgaaat
      781 cacagaaagt gggagcttgg aggatccctc catggcgatg gccgtggaga gaggagcttg
      841 cccttctggg gtcctggttc ctgaagagct cacccagaga ggctcaaagc agccttttgt
      901 cccagctcag ctttgatcta cacctcttgc caccttcctc aagggactgt gaccctttgg
      961 ggattctgtc cctgaccctg cttccccaag ctctcctggg tcttggaggg atgtgggaat
     1021 gaattggcat tgcaggaaag acaggtaaag tgattgctgc aatgagaagg agctgtgcgg
     1081 aaaaggaata aaagttggaa aggctggagc cgtgtgtgtg tgtgtgtgtg tgtgtgtgtg
     1141 tgtgtgtgtg tgtgtgagag agagccctcc cactgccagc tcaggttgtt cacagatttg
     1201 gaatgggacc agaggccctt gaaaatgtaa ttgtgattta cctgtgccaa aggtgcttta
     1261 aatgtcacat ttgtaaaggg gaaggcggac aagatttgga agtttagtca cctctgagcc
     1321 acccatcacc gccaaagtgt gggggaagga tagctgcaga ttgacaggcg aggctcagaa
     1381 actcctggct tagattgaag tgtgtgtgat gggggtgcag cttagaggac cccctctgaa
     1441 agggatggag atgctgatga gaacaacact accacttgaa ggtgaacatt ccctgtctgg
     1501 ttggactgag tcaagggtct gcggtgcagc atcttcagct tgagaaaatg aggttgtcag
     1561 tttccagcaa ggctgacatc caccagactg atttctccga tgttgcactt ggctggctta
     1621 tgcctctgag atcggtgcca cggctgtatt tatttcagtt gtcactgctg ctccctcctg
     1681 ctatgaaacg acactgccag tgccagcagt gtccttggga aaggcaatat ttatgaaggg
     1741 cagaagaggc agccccaaga acctaaagac tgcaggctgc taattgcagg aaatgacttt
     1801 ggaagggcag gctcttgtcc agtttcaggg ctgaaatgcc tggcgaactc cattcagcca
     1861 tcacatattg actgagtggc tgcttagcat gggccaccgc gctaggctcg ggacagctgg
     1921 tctttccggc catctttctt gctggcaagt cagcaaacat taccttctta gtcacgtgca
     1981 tatttttgcc ttcattctta ccacctggcc tgcaaagttt gcaggagggc caggtatatt
     2041 cacttgtgtc ttctgggtcc tttcattgct gacaggctgt gatggccctc ttgagccttg
     2101 ggcagggtgg gtgaggtgca gatgaccagg agtgtgtgaa tgccttccag gaggtggctt
     2161 tgttccgtgc ctccctgccc ccatcgtcac taccaggtct ggtacggagt cggtgctcag
     2221 tgtttgcaaa acagagctga aaacggactt tgggaggccg aggcaggcag atcacctgag
     2281 gtcaggagtt tgagaccagc ctggtcaaca tggtaaaacc ccatttctgc taaaaaaaaa
     2341 aaaaaaaaaa aaaaattagc tgggcatggt ggcgggtgcc tgtaatccca gctattcagg
     2401 aggctgaggc aggagaatca cttgaaccta cgaggcagag gctgcagtga gccaagatcg
     2461 tgacacgaca ctccagcctg gctgatagag tgagactccg tcacaaaaaa aaaaaaaaaa
     2521 aaaaaaaaac cctgaaaacg caatcactaa ggctcggtca gggagtatgt tcaaagagct
     2581 tgcagcgaat cactcaattc tgtctacacc tcaaaatctc aaaatcttcc tggaatatat
     2641 atatatatat aaaataacac agcagccctg catgcctagc catgggaaag cacagcctcc
     2701 aaaggataag gaaagctttt tgagtaaata caacatccta aagtgacaat ctttgaaaca
     2761 aggccgttca cctgttgcca agtcctgtcc ttccaggacc gggtgtcaca gcctggatgt
     2821 taacagtcgc gttctcagac ccccgcctct gtatctgtct cccggttcac cagcaaacac
     2881 ttctctgaga aaccacctgg gtgcagggca gatgccacca ctcagcaggt gtttctctcc
     2941 tgtgctacca acctgggaaa aatggagaaa gcttgctttg ggggctggaa ggatggggtg
     3001 tttaaaacat ttgctcttct gcagtgcctt tcaaaagctc tatcaagagc ccgaggcaaa
     3061 agaaaagatg tgtacccctc tgtacactga gcaaatgtcc tcccatattt tgaaccaggt
     3121 gggaaaagtt aatgaaagcc ctacagtcag gaaatgtgac tgcgaagccc ccgctgcccc
     3181 agtgtttgca caccactggc aactctcaga aacaatcagt cccattgcac gggaacacgg
     3241 ggttttgaaa caaacagcag cctgttttta tttaaagtcg tgatcccttg cttatcgtag
     3301 atttttttca taatttgatt ttggaaaata ttgcacacaa atactactcg atccctgagt
     3361 ttgtgggcac ttccttacat tttgcaccca tgaaaatgcc tcctccgcct ccaggtcagg
     3421 ctccctggaa tggggtgttt agtgtcattt ccagagacaa gctggcagtt ggctcttgtg
     3481 tcagagagaa gcccacagtc acagtgacac cagcccgcac tgtggaaggg cttgctatgt
     3541 gcagtgccct gagccaagtg ttccacagac attatctcat ttgaacccca tagcagccct
     3601 ggaaggaggc attgggtggg gaaccaagtt gtcctgggga gtcagtgcca agatgtgagc
     3661 cccggacgcg gcctcgtcac tcacagcccc gtgctcctca gctcccaccc actgccgctt
     3721 gacagtcgtt ttaatcacta cctgggctgt ggcgaacaat gccaggctct gatagatcct
     3781 gctgtctcat ttctcaacct agtttccctt aactaatatt tcatggctat cgttaatgtg
     3841 cgtttttcat cgagtaattt ccacagcccg aacttgtaac acatcccaat gacaaacgtc
     3901 cccagttcgg aagcccccgt cagtggcaat gtcacccttg ctgctgcctc gacaccttcc
     3961 gacagcccat tcagttttat gatcgccctg tcccagtgat cactactgaa cctttaagaa
     4021 tccagatgca tttcaagttt aattgaataa aattctttgt ataataaatt ccgcatgaat
     4081 gctacataaa
//
