LOCUS       NM_020166               2454 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens methylcrotonyl-CoA carboxylase subunit 1 (MCCC1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_020166
VERSION     NM_020166.5
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 2454)
  AUTHORS   Feng,Y., Huang,J., Wang,F., Lin,Z., Luo,H., Li,Q., Wang,X., Liu,X.,
            Zhai,X., Gao,Q., Li,L., Zhang,Y., Wen,J., Zhang,L., Niu,T. and
            Zheng,Y.
  TITLE     Methylcrotonyl-CoA carboxylase subunit 1 (MCCA) regulates multidrug
            resistance in multiple myeloma
  JOURNAL   Life Sci 333, 122157 (2023)
   PUBMED   37805164
  REMARK    GeneRIF: Methylcrotonyl-CoA carboxylase subunit 1 (MCCA) regulates
            multidrug resistance in multiple myeloma.
REFERENCE   2  (bases 1 to 2454)
  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   3  (bases 1 to 2454)
  AUTHORS   Lim,J.L., Ng,E.Y., Lim,S.Y., Tan,A.H., Abdul-Aziz,Z., Ibrahim,K.A.,
            Gopalai,A.A., Tay,Y.W., Vijayanathan,Y., Toh,T.S., Lim,S.K.,
            Bee,P.C., Puvanarajah,S.D., Viswanathan,S., Looi,I., Lim,T.T.,
            Eow,G.B., Cheah,W.K., Tan,E.K. and Ahmad-Annuar,A.
  TITLE     Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's
            disease in patients of Malay ancestry
  JOURNAL   Neurol Sci 42 (10), 4203-4207 (2021)
   PUBMED   33559030
  REMARK    GeneRIF: Association study of MCCC1/LAMP3 and DGKQ variants with
            Parkinson's disease in patients of Malay ancestry.
REFERENCE   4  (bases 1 to 2454)
  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   5  (bases 1 to 2454)
  AUTHORS   Zhao,A., Li,Y., Niu,M., Li,G., Luo,N., Zhou,L., Kang,W. and Liu,J.
  TITLE     SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with
            Parkinson's disease in southern Chinese population
  JOURNAL   J Cell Mol Med 24 (15), 8744-8752 (2020)
   PUBMED   32652860
  REMARK    GeneRIF: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated
            with Parkinson's disease in southern Chinese population.
REFERENCE   6  (bases 1 to 2454)
  AUTHORS   Holzinger,A., Roschinger,W., Lagler,F., Mayerhofer,P.U.,
            Lichtner,P., Kattenfeld,T., Thuy,L.P., Nyhan,W.L., Koch,H.G.,
            Muntau,A.C. and Roscher,A.A.
  TITLE     Cloning of the human MCCA and MCCB genes and mutations therein
            reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase
            deficiency
  JOURNAL   Hum Mol Genet 10 (12), 1299-1306 (2001)
   PUBMED   11406611
REFERENCE   7  (bases 1 to 2454)
  AUTHORS   Obata,K., Fukuda,T., Morishita,R., Abe,S., Asakawa,S.,
            Yamaguchi,S., Yoshino,M., Ihara,K., Murayama,K., Shigemoto,K.,
            Shimizu,N. and Kondo,I.
  TITLE     Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase
            gene (MCCA): cDNA sequence, genomic organization, localization to
            chromosomal band 3q27, and expression
  JOURNAL   Genomics 72 (2), 145-152 (2001)
   PUBMED   11401427
REFERENCE   8  (bases 1 to 2454)
  AUTHORS   Baumgartner,M.R., Almashanu,S., Suormala,T., Obie,C., Cole,R.N.,
            Packman,S., Baumgartner,E.R. and Valle,D.
  TITLE     The molecular basis of human 3-methylcrotonyl-CoA carboxylase
            deficiency
  JOURNAL   J Clin Invest 107 (4), 495-504 (2001)
   PUBMED   11181649
REFERENCE   9  (bases 1 to 2454)
  AUTHORS   Gallardo,M.E., Desviat,L.R., Rodriguez,J.M., Esparza-Gordillo,J.,
            Perez-Cerda,C., Perez,B., Rodriguez-Pombo,P., Criado,O., Sanz,R.,
            Morton,D.H., Gibson,K.M., Le,T.P., Ribes,A., de Cordoba,S.R.,
            Ugarte,M. and Penalva,M.A.
  TITLE     The molecular basis of 3-methylcrotonylglycinuria, a disorder of
            leucine catabolism
  JOURNAL   Am J Hum Genet 68 (2), 334-346 (2001)
   PUBMED   11170888
REFERENCE   10 (bases 1 to 2454)
  AUTHORS   Elpeleg,O.N., Havkin,S., Barash,V., Jakobs,C., Glick,B. and
            Shalev,R.S.
  TITLE     Familial hypotonia of childhood caused by isolated
            3-methylcrotonyl-coenzyme A carboxylase deficiency
  JOURNAL   J Pediatr 121 (3), 407-410 (1992)
   PUBMED   1517917
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC004214.2, AL556872.3 and AB029826.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020166.4.
            
            Summary: This gene encodes the large subunit of
            3-methylcrotonyl-CoA carboxylase. This enzyme functions as a
            heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA
            to form 3-methylglutaconyl-CoA. Mutations in this gene are
            associated with 3-Methylcrotonylglycinuria, an autosomal recessive
            disorder of leucine catabolism. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC004187.2, AF297332.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 16023992, 11401427;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000265594.9/
                                                  ENSP00000265594.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-451               BC004214.2         77-527
            452-482             AL556872.3         483-513
            483-1446            BC004214.2         559-1522
            1447-2452           AB029826.1         1523-2528
            2453-2454           BC004214.2         2529-2530
FEATURES             Location/Qualifiers
     source          1..2454
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..2454
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /note="methylcrotonyl-CoA carboxylase subunit 1"
                     /db_xref="GeneID:56922"
                     /db_xref="HGNC:HGNC:6936"
                     /db_xref="MIM:609010"
     exon            1..145
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..2234
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /EC_number="6.4.1.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 3-methylcrotonyl-CoA carboxylase
                     biotin-containing subunit; methylcrotonoyl-Coenzyme A
                     carboxylase 1 (alpha); methylcrotonoyl-CoA carboxylase
                     subunit alpha, mitochondrial; 3-methylcrotonyl-CoA:carbon
                     dioxide ligase subunit alpha; MCCase subunit alpha;
                     3-methylcrotonyl-CoA carboxylase 1; methylcrotonoyl-CoA
                     carboxylase 1 (alpha); methylcrotonoyl-CoA carboxylase
                     alpha"
                     /codon_start=1
                     /product="methylcrotonoyl-CoA carboxylase subunit alpha,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_064551.3"
                     /db_xref="CCDS:CCDS3241.1"
                     /db_xref="GeneID:56922"
                     /db_xref="HGNC:HGNC:6936"
                     /db_xref="MIM:609010"
                     /translation="MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTA
                     TGRNITKVLIANRGEIACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAP
                     SQQSYLSMEKIIQVAKTSAAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDM
                     GIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIV
                     RSEQEFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDC
                     SVQRRHQKIIEEAPAPGIKSEVRKKLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFM
                     EMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEITLQGHAFEARIYAEDPS
                     NNFMPVAGPLVHLSTPRADPSTRIETGVRQGDEVSVHYDPMIAKLVVWAADRQAALTK
                     LRYSLRQYNIVGLHTNIDFLLNLSGHPEFEAGNVHTDFIPQHHKQLLLSRKAAAKESL
                     CQAALGLILKEKAMTDTFTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGKNNVAIAV
                     TYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKCSVNGVASKAKLIILENTIYLFSKE
                     GSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLMVMIAMKM
                     EHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESDKRESE"
     exon            146..192
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            193..329
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            330..425
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            426..547
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            548..695
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            696..817
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            818..929
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1011
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1139
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1323
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1433
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1650
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1737
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1738..1787
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1925
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1926..2033
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            2034..2105
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            2106..2454
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2422..2427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /note="hexamer: AATAAA"
     polyA_site      2454
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /note="major polyA site"
ORIGIN      
        1 gtgggacgca gctgcctctg tactggggag tcacggagtg gccgggctcc agggacatgg
       61 cggcggcctc tgcggtgtcg gtgctgctgg tggcggcgga gaggaaccgg tggcatcgtc
      121 tcccgagcct gctcctgccg ccgaggacat gggtgtggag gcaaagaacc atgaagtaca
      181 caacagccac aggaagaaac attaccaagg tcctcattgc aaacagagga gaaattgcct
      241 gcagggtgat gcgcacagcc aaaaaactgg gtgtacagac tgtggcggtt tatagtgagg
      301 ctgacagaaa ttccatgcat gtagatatgg cagatgaagc atattccatc ggccccgctc
      361 cctcccagca gagctaccta tctatggaga aaatcattca agtggccaag acctctgctg
      421 cacaggctat ccatccagga tgcggttttc tctcagaaaa catggaattt gctgaacttt
      481 gtaagcaaga aggaattatt tttataggcc ctcctccatc tgcaattaga gacatgggta
      541 taaagagcac atccaaatcc ataatggctg ctgctggagt acctgttgtg gagggttatc
      601 atggtgagga ccaatcagac cagtgcctga aggaacacgc caggagaatt ggctatcctg
      661 tcatgattaa agccgtccgg ggtggaggag gaaaaggaat gaggattgtt agatcagaac
      721 aagaatttca agaacagtta gagtcagcac ggagagaagc taagaagtct ttcaatgatg
      781 atgctatgct gatcgagaag tttgtagaca caccgaggca tgtagaagtc caggtgtttg
      841 gtgatcacca tggcaatgct gtgtacttgt ttgaaagaga ctgtagtgtg cagaggcgac
      901 atcagaagat cattgaggag gccccagcgc ctggtattaa atctgaagta agaaaaaagc
      961 tgggagaagc tgcagtcaga gctgctaaag ctgtaaatta tgttggagca gggactgtgg
     1021 agtttattat ggactcaaaa cataatttct gtttcatgga gatgaataca aggctgcaag
     1081 tggaacatcc tgttactgag atgatcacag gaactgactt ggtggagtgg cagcttagaa
     1141 ttgcagcagg agagaagatt cctttgagcc aggaagaaat aactctgcag ggccatgcct
     1201 tcgaagctag aatatatgca gaagatccta gcaataactt catgcctgtg gcaggcccat
     1261 tagtgcacct ctctactcct cgagcagacc cttccaccag gattgaaact ggagtacggc
     1321 aaggagacga agtttccgtg cattatgacc ccatgattgc gaagctggtc gtgtgggcag
     1381 cagatcgcca ggcggcattg acaaaactga ggtacagcct tcgtcagtac aatattgttg
     1441 gactgcacac caacattgac ttcttactca acctgtctgg ccacccagag tttgaagctg
     1501 ggaacgtgca cactgatttc atccctcaac accacaaaca gttgttgctc agtcggaagg
     1561 ctgcagccaa agagtcttta tgccaggcag ccctgggtct catcctcaag gagaaagcca
     1621 tgaccgacac tttcactctt caggcacatg atcaattctc tccattttcg tctagcagtg
     1681 gaagaagact gaatatctcg tataccagaa acatgactct taaagatggt aaaaacaatg
     1741 tagccatagc tgtaacgtat aaccatgatg ggtcttatag catgcagatt gaagataaaa
     1801 ctttccaagt ccttggtaat ctttacagcg agggagactg cacttacctg aaatgttctg
     1861 ttaatggagt tgctagtaaa gcgaagctga ttatcctgga aaacactatt tacctatttt
     1921 ccaaggaagg aagtattgag attgacattc cagtccccaa atacttatct tctgtgagct
     1981 cacaagaaac tcagggcggc cccttagctc ctatgactgg aaccattgaa aaggtgtttg
     2041 tcaaagctgg agacaaagtg aaagcgggag attccctcat ggttatgatc gccatgaaga
     2101 tggagcatac cataaagtct ccaaaggatg gcacagtaaa gaaagtgttc tacagagaag
     2161 gtgctcaggc caacagacac actcctttag tcgagtttga ggaggaagaa tcagacaaaa
     2221 gggaatcgga ataaactcca gcaaggaaat ggccagttaa gtagtgtctt ctctctccac
     2281 caaaaagagg aagtgcctcc agcttttctg ggggtctcat aaagagcagt tttactaaat
     2341 gattgtatgc ttatgctgaa cacctttcat attggagaat catgcatttg ggtcactaat
     2401 tatctcaaaa tatttcatac taataaagtt gaattatttt ttattggaag ccaa
//
