LOCUS       NM_206808               1181 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens citramalyl-CoA lyase (CLYBL), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_206808
VERSION     NM_206808.5
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 1181)
  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 1181)
  AUTHORS   Shen,H., Campanello,G.C., Flicker,D., Grabarek,Z., Hu,J., Luo,C.,
            Banerjee,R. and Mootha,V.K.
  TITLE     The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12
  JOURNAL   Cell 171 (4), 771-782 (2017)
   PUBMED   29056341
  REMARK    GeneRIF: Study reports that CLYBL loss leads to a cell-autonomous
            defect in the mitochondrial B12 metabolism and that itaconyl-CoA is
            a cofactor-inactivating, substrate-analog inhibitor of the
            mitochondrial B12-dependent methylmalonyl-CoA mutase
REFERENCE   3  (bases 1 to 1181)
  AUTHORS   Bossini-Castillo,L., de Kovel,C., Kallberg,H., van 't Slot,R.,
            Italiaander,A., Coenen,M., Tak,P.P., Posthumus,M.D., Wijmenga,C.,
            Huizinga,T., van der Helm-van Mil,A.H., Stoeken-Rijsbergen,G.,
            Rodriguez-Rodriguez,L., Balsa,A., Gonzalez-Alvaro,I.,
            Gonzalez-Gay,M.A., Gomez-Vaquero,C., Franke,B., Vermeulen,S., van
            der Horst-Bruinsma,Ie., Dijkmans,B.A., Wolbink,G.J., Ophoff,R.A.,
            Maehlen,M.T., van Riel,P., Merriman,M., Klareskog,L., Lie,B.A.,
            Merriman,T., Crusius,J.B., Brouwer,E., Martin,J., de Vries,N.,
            Toes,R., Padyukov,L. and Koeleman,B.P.
  CONSRTM   LifeLines Cohort Study
  TITLE     A genome-wide association study of rheumatoid arthritis without
            antibodies against citrullinated peptides
  JOURNAL   Ann Rheum Dis 74 (3), e15 (2015)
   PUBMED   24532677
REFERENCE   4  (bases 1 to 1181)
  AUTHORS   Strittmatter,L., Li,Y., Nakatsuka,N.J., Calvo,S.E., Grabarek,Z. and
            Mootha,V.K.
  TITLE     CLYBL is a polymorphic human enzyme with malate synthase and
            beta-methylmalate synthase activity
  JOURNAL   Hum Mol Genet 23 (9), 2313-2323 (2014)
   PUBMED   24334609
REFERENCE   5  (bases 1 to 1181)
  AUTHORS   Lin,X., Lu,D., Gao,Y., Tao,S., Yang,X., Feng,J., Tan,A., Zhang,H.,
            Hu,Y., Qin,X., Kim,S.T., Peng,T., Li,L., Mo,L., Zhang,S.,
            Trent,J.M., Mo,Z., Zheng,S.L., Xu,J. and Sun,J.
  TITLE     Genome-wide association study identifies novel loci associated with
            serum level of vitamin B12 in Chinese men
  JOURNAL   Hum Mol Genet 21 (11), 2610-2617 (2012)
   PUBMED   22367966
REFERENCE   6  (bases 1 to 1181)
  AUTHORS   Morikawa,J., Nishimura,Y., Uchida,A. and Tanaka,T.
  TITLE     Molecular cloning of novel mouse and human putative citrate lyase
            beta-subunit
  JOURNAL   Biochem Biophys Res Commun 289 (5), 1282-1286 (2001)
   PUBMED   11741334
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL139035.27 and AL137139.9.
            
            On Feb 13, 2021 this sequence version replaced NM_206808.4.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339105.9/ ENSP00000342991.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                AL139035.27        136047-136114
            69-255              AL137139.9         5256-5442
            256-444             AL137139.9         91293-91481
            445-546             AL137139.9         95423-95524
            547-640             AL137139.9         97250-97343
            641-808             AL137139.9         98672-98839
            809-933             AL137139.9         103370-103494
            934-1053            AL137139.9         123750-123869
            1054-1181           AL137139.9         124875-125002
FEATURES             Location/Qualifiers
     source          1..1181
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     gene            1..1181
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /note="citramalyl-CoA lyase"
                     /db_xref="GeneID:171425"
                     /db_xref="HGNC:HGNC:18355"
                     /db_xref="MIM:609686"
     exon            1..68
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     CDS             7..1029
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /EC_number="2.3.3.9"
                     /EC_number="4.1.3.25"
                     /EC_number="3.1.2.30"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; citrate lyase subunit beta-like protein,
                     mitochondrial; malate synthase; beta-methylmalate
                     synthase; citramalyl-CoA lyase, mitochondrial;
                     (3S)-malyl-CoA thioesterase; citrate lyase beta like"
                     /codon_start=1
                     /product="citramalyl-CoA lyase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_996531.1"
                     /db_xref="CCDS:CCDS32002.1"
                     /db_xref="GeneID:171425"
                     /db_xref="HGNC:HGNC:18355"
                     /db_xref="MIM:609686"
                     /translation="MALRLLRRAARGAAAAALLRLKASLAADIPRLGYSSSSHHKYIP
                     RRAVLYVPGNDEKKIKKIPSLNVDCAVLDCEDGVAANKKNEARLRIVKTLEDIDLGPT
                     EKCVRVNSVSSGLAEEDLETLLQSRVLPSSLMLPKVESPEEIQWFADKFSFHLKGRKL
                     EQPMNLIPFVETAMGLLNFKAVCEETLKVGPQVGLFLDAVVFGGEDFRASIGATSSKE
                     TLDILYARQKIVVIAKAFGLQAIDLVYIDFRDGAGLLRQSREGAAMGFTGKQVIHPNQ
                     IAVVQEQFSPSPEKIKWAEELIAAFKEHQQLGKGAFTFQGSMIDMPLLKQAQNTVTLA
                     TSIKEK"
     exon            69..255
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     exon            256..444
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     exon            445..546
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     exon            547..640
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     exon            641..808
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     exon            809..933
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1053
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1181
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1155..1160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /note="hexamer: ATTAAA"
     polyA_site      1181
                     /gene="CLYBL"
                     /gene_synonym="CLB"
                     /note="major polyA site"
ORIGIN      
        1 gggaagatgg cgctacgtct gctgcggagg gcggcgcgcg gagctgcggc ggcggcgctg
       61 ctgaggctga aagcgtctct agcagctgat atccccagac ttggatatag ttcctcatcc
      121 catcacaagt acatcccccg gagggcagtg ctttatgtac ctggaaatga tgaaaagaaa
      181 ataaagaaga ttccatccct gaatgtagat tgtgcagtgc tcgactgtga ggatggagtg
      241 gctgcaaaca aaaagaatga agctcgactg agaattgtaa aaactcttga agacattgat
      301 ctgggcccta ctgaaaaatg tgtgagagtc aactcagttt ccagtggtct ggcggaagaa
      361 gacctagaga cccttttgca atcccgggtc cttccttcca gcctgatgct accaaaggtg
      421 gaaagtcctg aagaaatcca gtggtttgca gacaaatttt cattccactt aaaaggccga
      481 aaacttgaac aaccaatgaa tttaatccct tttgtggaaa ctgcaatggg tttgctcaat
      541 tttaaggcag tgtgtgaaga aaccctgaag gtcgggcctc aagtaggtct ctttctagat
      601 gcagtcgttt ttggaggaga agactttcga gccagcatag gtgcaacaag tagtaaagaa
      661 accctggata ttctctacgc ccggcaaaag attgttgtca tagcgaaagc ctttggtctc
      721 caagccatag atctggtgta cattgacttt cgagatggag ctgggctgct tagacagtca
      781 cgagaaggag ccgccatggg cttcactggt aagcaggtga ttcaccctaa ccaaattgcc
      841 gtggtccagg agcagttttc tccttcccct gaaaaaatta agtgggctga agaactgatt
      901 gctgccttta aagaacatca acaattagga aagggggcct ttactttcca agggagtatg
      961 atcgacatgc cattactgaa gcaggcccag aacactgtta cgcttgccac ctccatcaag
     1021 gaaaaatgat ctgttaaatg aagctgtcat caggctaaag ggtattgaag ctgcagaggg
     1081 atcaacttgt gcttgccaga ggacgccaat gaagtttgaa acaccaacaa tcagagattt
     1141 tgtttctgtt cctcattaaa tcatgagctt ttgtgccgag a
//
