LOCUS       NM_001363880            2408 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens methylcrotonyl-CoA carboxylase subunit 1 (MCCC1),
            transcript variant 5, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001363880 XM_006713702
VERSION     NM_001363880.1
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 2408)
  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 2408)
  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 2408)
  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 2408)
  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 2408)
  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 2408)
  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 2408)
  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 2408)
  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 2408)
  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 2408)
  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
            AC104641.11 and AC108741.9.
            
            On Jun 3, 2018 this sequence version replaced XM_006713702.1.
            
            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 (5) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (3) is
            shorter at the N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR3476690.756223.1,
                                           SRR1803613.61727.1 [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
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-236               AC104641.11        86057-86292         c
            237-283             AC104641.11        81264-81310         c
            284-379             AC104641.11        73398-73493         c
            380-501             AC104641.11        59071-59192         c
            502-649             AC104641.11        57915-58062         c
            650-771             AC104641.11        57704-57825         c
            772-883             AC104641.11        44016-44127         c
            884-965             AC104641.11        38864-38945         c
            966-1093            AC104641.11        32118-32245         c
            1094-1277           AC104641.11        28272-28455         c
            1278-1387           AC104641.11        25731-25840         c
            1388-1604           AC104641.11        23923-24139         c
            1605-1691           AC104641.11        20696-20782         c
            1692-1741           AC104641.11        12460-12509         c
            1742-1879           AC104641.11        9122-9259           c
            1880-1987           AC104641.11        6835-6942           c
            1988-2059           AC104641.11        3971-4042           c
            2060-2337           AC104641.11        1994-2271           c
            2338-2408           AC108741.9         15830-15900         c
FEATURES             Location/Qualifiers
     source          1..2408
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..2408
                     /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..236
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            237..283
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            284..379
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     CDS             338..2188
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /EC_number="6.4.1.4"
                     /note="isoform 3 is encoded by transcript variant 5;
                     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 3"
                     /protein_id="NP_001350809.1"
                     /db_xref="CCDS:CCDS87170.1"
                     /db_xref="GeneID:56922"
                     /db_xref="HGNC:HGNC:6936"
                     /db_xref="MIM:609010"
                     /translation="MEKIIQVAKTSAAQAIHPGCGFLSENMEFAELCKQEGIIFIGPP
                     PSAIRDMGIKSTSKSIMAAAGVPVVEGYHGEDQSDQCLKEHARRIGYPVMIKAVRGGG
                     GKGMRIVRSEQEFQEQLESARREAKKSFNDDAMLIEKFVDTPRHVEVQVFGDHHGNAV
                     YLFERDCSVQRRHQKIIEEAPAPGIKSEVRKKLGEAAVRAAKAVNYVGAGTVEFIMDS
                     KHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQLRIAAGEKIPLSQEEITLQGHAFEAR
                     IYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGVRQGDEVSVHYDPMIAKLVVWAAD
                     RQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFEAGNVHTDFIPQHHKQLLLSRK
                     AAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSSSGRRLNISYTRNMTLKDGK
                     NNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKCSVNGVASKAKLIILENT
                     IYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKVFVKAGDKVKAGDSLM
                     VMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESDKRESE"
     exon            380..501
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            502..649
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            650..771
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            772..883
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            884..965
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1093
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1277
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1387
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1604
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1691
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1692..1741
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1742..1879
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1880..1987
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            1988..2059
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2408
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2376..2381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /note="hexamer: AATAAA"
     polyA_site      2408
                     /gene="MCCC1"
                     /gene_synonym="MCC-B; MCCA; MCCCalpha"
                     /note="major polyA site"
ORIGIN      
        1 acattcttgg atcagcccaa aggtaggctc aggctccgac ggtggccggc gggggtcacg
       61 aggcttcgta gtggaggaac gggtttggcg tgtgggacgc agctgcctct gtactgggga
      121 gtcacggagt ggccgggctc cagggacatg gcggcggcct ctgcggtgtc ggtgctgctg
      181 gtggcggcgg agaggaaccg gtggcatcgt ctcccgagcc tgctcctgcc gccgaggaca
      241 tgggtgtgga ggcaaagaac catgaagtac acaacagcca caggcagatg aagcatattc
      301 catcggcccc gctccctccc agcagagcta cctatctatg gagaaaatca ttcaagtggc
      361 caagacctct gctgcacagg ctatccatcc aggatgcggt tttctctcag aaaacatgga
      421 atttgctgaa ctttgtaagc aagaaggaat tatttttata ggccctcctc catctgcaat
      481 tagagacatg ggtataaaga gcacatccaa atccataatg gctgctgctg gagtacctgt
      541 tgtggagggt tatcatggtg aggaccaatc agaccagtgc ctgaaggaac acgccaggag
      601 aattggctat cctgtcatga ttaaagccgt ccggggtgga ggaggaaaag gaatgaggat
      661 tgttagatca gaacaagaat ttcaagaaca gttagagtca gcacggagag aagctaagaa
      721 gtctttcaat gatgatgcta tgctgatcga gaagtttgta gacacaccga ggcatgtaga
      781 agtccaggtg tttggtgatc accatggcaa tgctgtgtac ttgtttgaaa gagactgtag
      841 tgtgcagagg cgacatcaga agatcattga ggaggcccca gcgcctggta ttaaatctga
      901 agtaagaaaa aagctgggag aagctgcagt cagagctgct aaagctgtaa attatgttgg
      961 agcagggact gtggagttta ttatggactc aaaacataat ttctgtttca tggagatgaa
     1021 tacaaggctg caagtggaac atcctgttac tgagatgatc acaggaactg acttggtgga
     1081 gtggcagctt agaattgcag caggagagaa gattcctttg agccaggaag aaataactct
     1141 gcagggccat gccttcgaag ctagaatata tgcagaagat cctagcaata acttcatgcc
     1201 tgtggcaggc ccattagtgc acctctctac tcctcgagca gacccttcca ccaggattga
     1261 aactggagta cggcaaggag acgaagtttc cgtgcattat gaccccatga ttgcgaagct
     1321 ggtcgtgtgg gcagcagatc gccaggcggc attgacaaaa ctgaggtaca gccttcgtca
     1381 gtacaatatt gttggactgc acaccaacat tgacttctta ctcaacctgt ctggccaccc
     1441 agagtttgaa gctgggaacg tgcacactga tttcatccct caacaccaca aacagttgtt
     1501 gctcagtcgg aaggctgcag ccaaagagtc tttatgccag gcagccctgg gtctcatcct
     1561 caaggagaaa gccatgaccg acactttcac tcttcaggca catgatcaat tctctccatt
     1621 ttcgtctagc agtggaagaa gactgaatat ctcgtatacc agaaacatga ctcttaaaga
     1681 tggtaaaaac aatgtagcca tagctgtaac gtataaccat gatgggtctt atagcatgca
     1741 gattgaagat aaaactttcc aagtccttgg taatctttac agcgagggag actgcactta
     1801 cctgaaatgt tctgttaatg gagttgctag taaagcgaag ctgattatcc tggaaaacac
     1861 tatttaccta ttttccaagg aaggaagtat tgagattgac attccagtcc ccaaatactt
     1921 atcttctgtg agctcacaag aaactcaggg cggcccctta gctcctatga ctggaaccat
     1981 tgaaaaggtg tttgtcaaag ctggagacaa agtgaaagcg ggagattccc tcatggttat
     2041 gatcgccatg aagatggagc ataccataaa gtctccaaag gatggcacag taaagaaagt
     2101 gttctacaga gaaggtgctc aggccaacag acacactcct ttagtcgagt ttgaggagga
     2161 agaatcagac aaaagggaat cggaataaac tccagcaagg aaatggccag ttaagtagtg
     2221 tcttctctct ccaccaaaaa gaggaagtgc ctccagcttt tctgggggtc tcataaagag
     2281 cagttttact aaatgattgt atgcttatgc tgaacacctt tcatattgga gaatcatgca
     2341 tttgggtcac taattatctc aaaatatttc atactaataa agttgaatta ttttttattg
     2401 gaagccaa
//
