LOCUS       NM_022132               3624 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens methylcrotonyl-CoA carboxylase subunit 2 (MCCC2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_022132
VERSION     NM_022132.5
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 3624)
  AUTHORS   He,J., Yi,J., Ji,L., Dai,L., Chen,Y. and Xue,W.
  TITLE     ECHDC2 inhibits the proliferation of gastric cancer cells by
            binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis
  JOURNAL   Mol Med 30 (1), 69 (2024)
   PUBMED   38783226
  REMARK    GeneRIF: ECHDC2 inhibits the proliferation of gastric cancer cells
            by binding with NEDD4 to degrade MCCC2 and reduce aerobic
            glycolysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3624)
  AUTHORS   Liu,W., Chen,S., Xie,W., Wang,Q., Luo,Q., Huang,M., Gu,M., Lan,P.
            and Chen,D.
  TITLE     MCCC2 is a novel mediator between mitochondria and telomere and
            functions as an oncogene in colorectal cancer
  JOURNAL   Cell Mol Biol Lett 28 (1), 80 (2023)
   PUBMED   37828426
  REMARK    GeneRIF: MCCC2 is a novel mediator between mitochondria and
            telomere and functions as an oncogene in colorectal cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3624)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3624)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   5  (bases 1 to 3624)
  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   6  (bases 1 to 3624)
  AUTHORS   Dantas,M.F., Suormala,T., Randolph,A., Coelho,D., Fowler,B.,
            Valle,D. and Baumgartner,M.R.
  TITLE     3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in
            28 probands, 9 symptomatic and 19 detected by newborn screening
  JOURNAL   Hum Mutat 26 (2), 164 (2005)
   PUBMED   16010683
  REMARK    GeneRIF: factors other than the genotype at the MCCA and MCCB loci
            have a major influence on the phenotype of MCC deficiency
REFERENCE   7  (bases 1 to 3624)
  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   8  (bases 1 to 3624)
  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   9  (bases 1 to 3624)
  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   10 (bases 1 to 3624)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB050049.1, CN309723.1,
            AC143336.1 and AK025591.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022132.4.
            
            Summary: This gene encodes the small 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. Alternative splicing results in
            multiple transcript variants encoding distinct isoforms. [provided
            by RefSeq, May 2018].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 and orthologous data.
            
            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 :: SRR1803616.277580.1, HM005569.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000340941.11/
                                                  ENSP00000343657.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1453              AB050049.1         14-1466
            1454-1828           CN309723.1         217-591
            1829-3021           AC143336.1         53188-54380
            3022-3622           AK025591.1         1637-2237
            3623-3624           AC143336.1         54982-54983
FEATURES             Location/Qualifiers
     source          1..3624
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..3624
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /note="methylcrotonyl-CoA carboxylase subunit 2"
                     /db_xref="GeneID:64087"
                     /db_xref="HGNC:HGNC:6937"
                     /db_xref="MIM:609014"
     exon            1..215
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1778
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /EC_number="6.4.1.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; biotin carboxylase; methylcrotonoyl-Coenzyme A
                     carboxylase 2 (beta); non-biotin containing subunit of
                     3-methylcrotonyl-CoA carboxylase; methylcrotonoyl-CoA
                     carboxylase beta chain, mitochondrial; MCCase subunit
                     beta; 3-methylcrotonyl-CoA carboxylase 2;
                     3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta;
                     3-methylcrotonyl-CoA carboxylase non-biotin-containing
                     subunit; methylcrotonoyl-CoA carboxylase 2 (beta);
                     testicular secretory protein Li 29"
                     /codon_start=1
                     /product="methylcrotonoyl-CoA carboxylase beta chain,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_071415.1"
                     /db_xref="CCDS:CCDS34184.1"
                     /db_xref="GeneID:64087"
                     /db_xref="HGNC:HGNC:6937"
                     /db_xref="MIM:609014"
                     /translation="MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQE
                     NYKQMKALVNQLHERVEHIKLGGGEKARALHISRGKLLPRERIDNLIDPGSPFLELSQ
                     FAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
                     MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTA
                     GGAYVPAMADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHW
                     ALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREV
                     IARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCC
                     QRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNY
                     GMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEP
                     IIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM"
     exon            216..282
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            283..367
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            368..469
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            470..597
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            598..710
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            711..824
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            825..889
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            890..989
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1085
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1158
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1235
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1302
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1459
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1574
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1660
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..3624
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2110..2115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /note="hexamer: TATAAA"
     polyA_site      2133
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
     regulatory      3603..3608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /note="hexamer: AATAAA"
     polyA_site      3624
                     /gene="MCCC2"
                     /gene_synonym="MCCB; MCCCbeta"
                     /note="major polyA site"
ORIGIN      
        1 agcttccgcc ccagccaggg aagcggcagg ggaaagcacc ggctccaggc cagcgtgggc
       61 cgctctctcg ctcggtgccc gccgccatgt gggccgtcct gaggttagcc ctgcggccgt
      121 gtgcccgcgc ctctcccgcc gggccgcgcg cctatcacgg ggactcggtg gcctcgctgg
      181 gcacccagcc ggacttgggc tctgccctct accaggagaa ctacaagcag atgaaagcac
      241 tagtaaatca gctccatgaa cgagtggagc atataaaact aggaggtggt gagaaagccc
      301 gagcacttca catatcaaga ggaaaactat tgcccagaga aagaattgac aatctcatag
      361 acccagggtc tccatttctg gaattatccc agtttgcagg ttaccagtta tatgacaatg
      421 aggaggtgcc aggaggtggc attattacag gcattggaag agtatcagga gtagaatgca
      481 tgattattgc caatgatgcc accgtcaaag gaggtgccta ctacccagtg actgtgaaaa
      541 aacaattacg ggcccaagaa attgccatgc aaaacaggct cccctgcatc tacttagttg
      601 attcgggagg agcatactta cctcgacaag cagatgtgtt tccagatcga gaccactttg
      661 gccgtacatt ctataatcag gcaattatgt cttctaaaaa tattgcacag atcgcagtgg
      721 tcatgggctc ctgcaccgca ggaggagcct atgtgcctgc catggctgat gaaaacatca
      781 ttgtacgcaa gcagggtacc attttcttgg caggaccccc cttggttaaa gcggcaactg
      841 gggaagaagt atctgctgag gatcttggag gtgctgatct tcattgcaga aagtctggag
      901 taagtgacca ctgggctttg gatgatcatc atgcccttca cttaactagg aaggttgtga
      961 ggaatctaaa ttatcagaag aaattggatg tcaccattga accttctgaa gagcctttat
     1021 ttcctgctga tgaattgtat ggaatagttg gtgctaacct taagaggagc tttgatgtcc
     1081 gagaggtcat tgctagaatc gtggatggaa gcagattcac tgagttcaaa gccttttatg
     1141 gagacacatt agttacagga tttgctcgaa tatttgggta cccagtaggt atcgttggaa
     1201 acaacggagt tctcttttct gaatctgcaa aaaagggtac tcactttgtc cagttatgct
     1261 gccaaagaaa tattcctctg ctgttccttc aaaacattac tggatttatg gttggtagag
     1321 agtatgaagc tgaaggaatt gccaaggatg gtgccaagat ggtggccgct gtggcctgtg
     1381 cccaagtgcc taagataacc ctcatcattg ggggctccta tggagccgga aactatggga
     1441 tgtgtggcag agcatatagc ccaagatttc tctacatttg gccaaatgct cgtatctcag
     1501 tgatgggagg agagcaggca gccaatgtgt tggccacgat aacaaaggac caaagagccc
     1561 gggaaggaaa gcagttctcc agtgctgatg aagcggcttt aaaagagccc atcattaaga
     1621 agtttgaaga ggaaggaaac ccttactatt ccagcgcaag ggtatgggat gatgggatca
     1681 ttgatccagc agacaccaga ctggtcttgg gtctcagttt tagtgcagcc ctcaacgcac
     1741 caatagagaa gactgacttc ggtatcttca ggatgtaact ggaataaagg atgttttctg
     1801 ttggacatgt actgaaaatt aacacatgta gtagccttaa aattttagac ttctcgaaca
     1861 tgaggctgtt acagtaattt ttttaacact gtgcattgta cttttctacc ttaaaaaaat
     1921 cagtgaggat atttatttaa tgaacatcaa ttccttttaa attttcttag agaaatttct
     1981 ctgtggctca gttttaccac ccataaagcg gagacagtaa tttacggtta tcctttctga
     2041 cccacaaagt atgaaaagtt ctgtaatctg taaactcagt tctgtaatct gtattattga
     2101 gatgattaat ataaagttgt attttcactg aaatgattgt tttgctggtt atgcttggtg
     2161 atattttagc gggcttattt ttgaaaggca tctgttactt cagtggcata aagtgccctc
     2221 acactgctgt gcagccatca ccaccattca tctccagaat ttgttctcag tcccaaactg
     2281 aaactatacc attcaaacaa cagcgctccc catttccccc tcccccgagc ccatgacatc
     2341 tccttattat tatttttttt ttgagacagg gtgtttctct gttgcccagg ctggagtgcg
     2401 gtggtgtgat ctcggctcac tgcagcttcc acctcccggg ttcaagcgat tcttgtgcct
     2461 cagcctccca agcagctggg actataggca cgcaccacca cacccagcta agttctgtat
     2521 ttttagcaga gacgggattt cactaggttg cccaggctgg tctcaaacta ctgacctcaa
     2581 gtgatccacc cgcctcggcc tcccaaagtg ctgggattac aggtgtgagc caccgcgcct
     2641 gaccacatct ccttattctt aaatgtatgt gtttctcatg gtttgattta ttcttgctgg
     2701 gccatttcag cccctgtcat ggcttcactc gccatctaaa tgcagatgat tactgccttg
     2761 acggttctta acccagctct cccctgagct gcaggcctgc atatccagta ggtctactgg
     2821 acatctgtac tggttgttgt ggaggaacct ctggcttgct cattaagtcc tactgatttt
     2881 cactatcccc tgaatttccc cacttatttt tgtctttcac tatcgcaggc cttagaagag
     2941 gtctacctgc ctccagtctt acctagtcca gtctaccccc tggagttaga atggccatcc
     3001 tgaagtgaaa agtaatgtca gattactccc ttcagtgatt tcttgtagaa gtgccaatcc
     3061 ctgaatgcca ccaagatctt aatcttcaca tctttaatct tatctctttg actcctcttt
     3121 acaccggaga acggctccag ctgttctagc tctctttcag ttctttgaac cttcccacct
     3181 tagggtctat aaggttccct ctgcccaaat tgttctactc tcccttcttc ttcaacacat
     3241 ccttcagttt aagcacttgc ttctctcagt ttaaactcca cttccttagg gatgtctctg
     3301 tgacctccct gtgctggatt agcttcccta ctctatgctc ttgtaaaaca ctatctactt
     3361 cctttgtcat aaactcatca ttttcctata aacattaata ttgtcctcct gctagaatgt
     3421 aagctccgtg agagcaagga tcctcctgtt taccctgtac ctccaatgtc tggcacttgt
     3481 aggtgctcaa atattcgttg aatgaatgaa aaatccatat tgtaattgat gtcctctggc
     3541 cacatagttt taaaattagg tgattgatta tatgaccgaa tagaactatc aaatgttttc
     3601 ctaataaagt caatatttca aaca
//
