LOCUS       NM_000056               1506 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens branched chain keto acid dehydrogenase E1 subunit beta
            (BCKDHB), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_000056
VERSION     NM_000056.5
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 1506)
  AUTHORS   Yang,J., Xiu,J., Sun,Y., Liu,F., Shang,X. and Li,G.
  TITLE     Three novel mutations of the BCKDHA, BCKDHB and DBT genes in
            Chinese children with maple syrup urine disease
  JOURNAL   J Pediatr Endocrinol Metab 35 (3), 303-312 (2021)
   PUBMED   34883003
  REMARK    GeneRIF: Three novel mutations of the BCKDHA, BCKDHB and DBT genes
            in Chinese children with maple syrup urine disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1506)
  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 1506)
  AUTHORS   Vargas-Morales,J.M., Guizar-Heredia,R., Mendez-Garcia,A.L.,
            Palacios-Gonzalez,B., Schcolnik-Cabrera,A., Granados,O.,
            Lopez-Barradas,A.M., Vazquez-Manjarrez,N., Medina-Vera,I.,
            Aguilar-Lopez,M., Tovar-Palacio,C., Ordaz-Nava,G.,
            Rocha-Viggiano,A.K., Medina-Cerda,E., Torres,N., Ordovas,J.M.,
            Tovar,A.R., Guevara-Cruz,M. and Noriega,L.G.
  TITLE     Association of BCAT2 and BCKDH polymorphisms with clinical,
            anthropometric and biochemical parameters in young adults
  JOURNAL   Nutr Metab Cardiovasc Dis 31 (11), 3210-3218 (2021)
   PUBMED   34511290
  REMARK    GeneRIF: Association of BCAT2 and BCKDH polymorphisms with
            clinical, anthropometric and biochemical parameters in young
            adults.
REFERENCE   4  (bases 1 to 1506)
  AUTHORS   Jiang,H.H., Guo,Y., Shen,X., Wang,Y., Dai,T.T., Rong,H., Cheng,R.
            and Zhao,F.
  TITLE     Neonatal maple syrup urine disease in China: two novel mutations in
            the BCKDHB gene and literature review
  JOURNAL   J Pediatr Endocrinol Metab 34 (9), 1147-1156 (2021)
   PUBMED   34187135
  REMARK    GeneRIF: Neonatal maple syrup urine disease in China: two novel
            mutations in the BCKDHB gene and literature review.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1506)
  AUTHORS   Strauss,K.A., Puffenberger,E.G. and Carson,V.J.
  TITLE     Maple Syrup Urine Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301495
REFERENCE   6  (bases 1 to 1506)
  AUTHORS   Mitsubuchi,H., Nobukuni,Y., Endo,F. and Matsuda,I.
  TITLE     Structural organization and chromosomal localization of the gene
            for the E1 beta subunit of human branched chain alpha-keto acid
            dehydrogenase
  JOURNAL   J Biol Chem 266 (22), 14686-14691 (1991)
   PUBMED   1860867
REFERENCE   7  (bases 1 to 1506)
  AUTHORS   Zneimer,S.M., Lau,K.S., Eddy,R.L., Shows,T.B., Chuang,J.L.,
            Chuang,D.T. and Cox,R.P.
  TITLE     Regional assignment of two genes of the human branched-chain
            alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to
            chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31
  JOURNAL   Genomics 10 (3), 740-747 (1991)
   PUBMED   1889817
REFERENCE   8  (bases 1 to 1506)
  AUTHORS   Nobukuni,Y., Mitsubuchi,H., Akaboshi,I., Indo,Y., Endo,F.,
            Yoshioka,A. and Matsuda,I.
  TITLE     Maple syrup urine disease. Complete defect of the E1 beta subunit
            of the branched chain alpha-ketoacid dehydrogenase complex due to a
            deletion of an 11-bp repeat sequence which encodes a mitochondrial
            targeting leader peptide in a family with the disease
  JOURNAL   J Clin Invest 87 (5), 1862-1866 (1991)
   PUBMED   2022752
REFERENCE   9  (bases 1 to 1506)
  AUTHORS   Nobukuni,Y., Mitsubuchi,H., Endo,F., Akaboshi,I., Asaka,J. and
            Matsuda,I.
  TITLE     Maple syrup urine disease. Complete primary structure of the E1
            beta subunit of human branched chain alpha-ketoacid dehydrogenase
            complex deduced from the nucleotide sequence and a gene analysis of
            patients with this disease
  JOURNAL   J Clin Invest 86 (1), 242-247 (1990)
   PUBMED   2365818
REFERENCE   10 (bases 1 to 1506)
  AUTHORS   Chuang,J.L., Cox,R.P. and Chuang,D.T.
  TITLE     Molecular cloning of the mature E1b-beta subunit of human
            branched-chain alpha-keto acid dehydrogenase complex
  JOURNAL   FEBS Lett 262 (2), 305-309 (1990)
   PUBMED   2335211
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U50708.1 and CA447889.1.
            
            On Aug 14, 2020 this sequence version replaced NM_000056.4.
            
            Summary: This gene encodes the E1 beta subunit of branched-chain
            keto acid dehydrogenase, which is a multienzyme complex associated
            with the inner membrane of mitochondria. This enzyme complex
            functions in the catabolism of branched-chain amino acids.
            Mutations in this gene have been associated with maple syrup urine
            disease (MSUD), type 1B, a disease characterized by a maple syrup
            odor to the urine in addition to mental and physical retardation
            and feeding problems. Alternative splicing at this locus results in
            multiple transcript variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (2) lacks an alternate segment in
            the 3' UTR compared to transcript variant 1. Both variants 1 and 2
            encode the same protein (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 :: HM005653.1, MT021992.1 [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
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1216              U50708.1           25-1240
            1217-1506           CA447889.1         19-308              c
FEATURES             Location/Qualifiers
     source          1..1506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..1506
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /note="branched chain keto acid dehydrogenase E1 subunit
                     beta"
                     /db_xref="GeneID:594"
                     /db_xref="HGNC:HGNC:987"
                     /db_xref="MIM:248611"
     exon            1..219
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1202
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /EC_number="1.2.4.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2; 2-oxoisovalerate dehydrogenase subunit beta,
                     mitochondrial; testis secretory sperm-binding protein Li
                     240mP; branched-chain alpha-keto acid dehydrogenase E1
                     component beta chain; branched chain alpha-ketoacid
                     dehydrogenase E1-beta subunit; E1b-beta subunit of the
                     branched-chain complex; branched chain keto acid
                     dehydrogenase E1 beta; branched chain keto acid
                     dehydrogenase E1, beta polypeptide"
                     /codon_start=1
                     /product="2-oxoisovalerate dehydrogenase subunit beta,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000047.1"
                     /db_xref="CCDS:CCDS4994.1"
                     /db_xref="GeneID:594"
                     /db_xref="HGNC:HGNC:987"
                     /db_xref="MIM:248611"
                     /translation="MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVED
                     AAQRRQVAHFTFQPDPEPREYGQTQKMNLFQSVTSALDNSLAKDPTAVIFGEDVAFGG
                     VFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTGATAIAEIQFADYIFPAFDQI
                     VNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGIKVVIPRSP
                     FQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVA
                     WGTQVHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLT
                     GGFASEISSTVQEECFLNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY
                     "
     exon            220..297
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            298..366
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            367..500
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            501..656
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            657..765
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            766..863
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            864..974
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1061
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1210
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1506
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1485..1490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /note="hexamer: AATAAA"
     polyA_site      1506
                     /gene="BCKDHB"
                     /gene_synonym="BCKDE1B; BCKDH E1-beta; E1B; MSUD1B; OVD1B"
                     /note="major polyA site"
ORIGIN      
        1 gagaatcccg gtggtgagcg gggatggcgg ttgtagcggc ggctgccggc tggctactca
       61 ggctcagggc ggcaggggct gaggggcact ggcgtcggct tcctggcgcg gggctggcgc
      121 ggggcttttt gcaccccgcc gcgactgtcg aggatgcggc ccagaggcgg caggtggctc
      181 attttacttt ccagccagat ccggagcccc gggagtacgg gcaaactcag aaaatgaatc
      241 ttttccagtc tgtaacaagt gccttggata actcattggc caaagatcct actgcagtaa
      301 tatttggtga agatgttgcc tttggtggag tctttagatg cactgttggc ttgcgagaca
      361 aatatggaaa agatagagtt tttaataccc cattgtgtga acaaggaatt gttggatttg
      421 gaatcggaat tgcggtcact ggagctactg ccattgcgga aattcagttt gcagattata
      481 ttttccctgc atttgatcag attgttaatg aagctgccaa gtatcgctat cgctctgggg
      541 atctttttaa ctgtggaagc ctcactatcc ggtccccttg gggctgtgtt ggtcatgggg
      601 ctctctatca ttctcagagt cctgaagcat tttttgccca ttgcccagga atcaaggtgg
      661 ttatacccag aagccctttc caggccaaag gacttctttt gtcatgcata gaggataaaa
      721 atccttgtat attttttgaa cctaaaatac tttacagggc agcagcggaa gaagtcccta
      781 tagaaccata caacatccca ctgtcccagg ccgaagtcat acaggaaggg agtgatgtta
      841 ctctagttgc ctggggcact caggttcatg tgatccgaga ggtagcttcc atggcaaaag
      901 aaaagcttgg agtgtcttgt gaagtcattg atctgaggac tataatacct tgggatgtgg
      961 acacaatttg taagtctgtg atcaaaacag ggcgactgct aatcagtcac gaggctccct
     1021 tgacaggcgg ctttgcatcg gaaatcagct ctacagttca ggaggaatgt ttcttgaacc
     1081 tagaggctcc tatatcaaga gtatgtggtt atgacacacc atttcctcac atttttgaac
     1141 cattctacat cccagacaaa tggaagtgtt atgatgccct tcgaaaaatg atcaactatt
     1201 gaccatatag aaaagctgga agattatgac tagatatgga aatatttttt ctgaattttt
     1261 ttttatattt cctccgactt acctcttttt gaaaagagag tttttattaa gtgaaccatc
     1321 acgatattgg ctgaaaagtt ctacattcta ttattgtatt gtaacacaca tgtattgatg
     1381 attttcatta agagtttcag attaactttg aaaaatattc cacatggtaa tcttataaat
     1441 tctgtttaat tacatctgta aatattatgt gtgtgatagt attcaataaa gtaaaatcaa
     1501 attgtc
//
