LOCUS       NM_005881               2036 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens branched chain keto acid dehydrogenase kinase (BCKDK),
            transcript variant 1, mRNA.
ACCESSION   NM_005881
VERSION     NM_005881.4
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 2036)
  AUTHORS   Wang,W., Li,Y., Tang,L., Shi,Y., Li,W., Zou,L., Zhang,L., Cheng,Y.,
            Yuan,Z., Zhu,F. and Duan,Q.
  TITLE     Cross-talk between BCKDK-mediated phosphorylation and
            STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM
            progression
  JOURNAL   Cancer Lett 591, 216849 (2024)
   PUBMED   38621458
  REMARK    GeneRIF: Cross-talk between BCKDK-mediated phosphorylation and
            STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM
            progression.
REFERENCE   2  (bases 1 to 2036)
  AUTHORS   Xu,C., Yang,K., Xuan,Z., Li,J., Liu,Y., Zhao,Y., Zheng,Z., Bai,Y.,
            Shi,Z., Shao,C., Zhang,L. and Sun,H.
  TITLE     BCKDK regulates breast cancer cell adhesion and tumor metastasis by
            inhibiting TRIM21 ubiquitinate talin1
  JOURNAL   Cell Death Dis 14 (7), 445 (2023)
   PUBMED   37460470
  REMARK    GeneRIF: BCKDK regulates breast cancer cell adhesion and tumor
            metastasis by inhibiting TRIM21 ubiquitinate talin1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2036)
  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   4  (bases 1 to 2036)
  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 2036)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2036)
  AUTHORS   Muller,E.A. and Danner,D.J.
  TITLE     Tissue-specific translation of murine branched-chain alpha-ketoacid
            dehydrogenase kinase mRNA is dependent upon an upstream open
            reading frame in the 5'-untranslated region
  JOURNAL   J Biol Chem 279 (43), 44645-44655 (2004)
   PUBMED   15302860
  REMARK    GeneRIF: This publication is about the mouse gene but contains the
            5' sequence of the human gene, including upstream open reading
            frame information.
REFERENCE   7  (bases 1 to 2036)
  AUTHORS   Chang,C.F., Chou,H.T., Chuang,J.L., Chuang,D.T. and Huang,T.H.
  TITLE     Solution structure and dynamics of the lipoic acid-bearing domain
            of human mitochondrial branched-chain alpha-keto acid dehydrogenase
            complex
  JOURNAL   J Biol Chem 277 (18), 15865-15873 (2002)
   PUBMED   11839747
  REMARK    GeneRIF: employment of multidimensional heteronuclear NMR
            techniques to determine the structure and dynamics of the LBD of
            the human branched-chain alpha-keto acid dehydrogenase complex
            (hbLBD)
REFERENCE   8  (bases 1 to 2036)
  AUTHORS   Popov,K.M., Zhao,Y., Shimomura,Y., Kuntz,M.J. and Harris,R.A.
  TITLE     Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular
            cloning, expression, and sequence similarity with histidine protein
            kinases
  JOURNAL   J Biol Chem 267 (19), 13127-13130 (1992)
   PUBMED   1377677
REFERENCE   9  (bases 1 to 2036)
  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   10 (bases 1 to 2036)
  AUTHORS   Harris,R.A., Zhang,B., Goodwin,G.W., Kuntz,M.J., Shimomura,Y.,
            Rougraff,P., Dexter,P., Zhao,Y., Gibson,R. and Crabb,D.W.
  TITLE     Regulation of the branched-chain alpha-ketoacid dehydrogenase and
            elucidation of a molecular basis for maple syrup urine disease
  JOURNAL   Adv Enzyme Regul 30, 245-263 (1990)
   PUBMED   2403034
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX427330.2, AC135050.3,
            BC007363.2 and BM679327.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005881.3.
            
            Summary: The branched-chain alpha-ketoacid dehydrogenase complex
            (BCKD) is an important regulator of the valine, leucine, and
            isoleucine catabolic pathways. The protein encoded by this gene is
            found in the mitochondrion, where it phosphorylates and inactivates
            BCKD. Several transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: SRR1803615.180227.1,
                                           SRR1803615.178557.1 [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                 :: ENST00000219794.11/
                                                  ENSP00000219794.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-271               BX427330.2         92-362
            272-466             AC135050.3         165102-165296
            467-535             AC135050.3         165389-165457
            536-646             AC135050.3         165551-165661
            647-694             AC135050.3         165955-166002
            695-814             AC135050.3         166083-166202
            815-913             AC135050.3         166279-166377
            914-987             AC135050.3         166566-166639
            988-1116            AC135050.3         166969-167097
            1117-1206           AC135050.3         167178-167267
            1207-1365           AC135050.3         167747-167905
            1366-1507           AC135050.3         167999-168140
            1508-1807           BC007363.2         1483-1782
            1808-2036           BM679327.1         17-245              c
FEATURES             Location/Qualifiers
     source          1..2036
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2036
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /note="branched chain keto acid dehydrogenase kinase"
                     /db_xref="GeneID:10295"
                     /db_xref="HGNC:HGNC:16902"
                     /db_xref="MIM:614901"
     exon            1..94
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            95..466
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     CDS             272..1510
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /EC_number="2.7.11.1"
                     /EC_number="2.7.11.4"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; branched chain alpha-ketoacid dehydrogenase
                     kinase; [3-methyl-2-oxobutanoate dehydrogenase
                     [lipoamide]] kinase, mitochondrial; BCKDHKIN; BCKD-kinase;
                     branched chain ketoacid dehydrogenase kinase; BCKDH
                     kinase"
                     /codon_start=1
                     /product="branched-chain alpha-ketoacid dehydrogenase
                     kinase isoform a precursor"
                     /protein_id="NP_005872.2"
                     /db_xref="CCDS:CCDS10705.1"
                     /db_xref="GeneID:10295"
                     /db_xref="HGNC:HGNC:16902"
                     /db_xref="MIM:614901"
                     /translation="MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMAR
                     ERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGRSQDGSHLLKSARYLQQELPVRI
                     AHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
                     DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFV
                     GIICTRLSPKKIIEKWVDFARRLCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPEL
                     LKNAMRATMESHLDTPYNVPDVVITIANNDVDLIIRISDRGGGIAHKDLDRVMDYHFT
                     TAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGI
                     GTDVYLRLRHIDGREESFRI"
     exon            467..535
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            536..646
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            647..694
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            695..814
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            815..913
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            914..987
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1116
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1206
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1365
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..2036
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1788..1793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /note="hexamer: ATTAAA"
     polyA_site      1811
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
                     /note="major polyA site"
     polyA_site      1845
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
     polyA_site      2026
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
     polyA_site      2036
                     /gene="BCKDK"
                     /gene_synonym="BCKDKD; BDK"
ORIGIN      
        1 gtcacggcgg cggagggcgc aggcggctgg gcgcctggcg agtggactgt tcgagccctt
       61 ccgctgggac ccgggccctg gctccggccc cgcgatggga gctgctctcc gcgggctgag
      121 cctgtcagca tcctcgacgc accctggtcc ctgaagtcgg agaagagccc ctacccaccc
      181 acaccccctt gccccatttt gggtcgcctg ggtcctcagt cctagcggat cctcagtcct
      241 agcggccacc gggtctgaaa ggagcaagac gatgatcctg gcgtcggtgc tgaggagcgg
      301 tcccgggggc gggcttccgc tccggcccct cctgggaccc gcactcgcgc tccgggcccg
      361 ctcgacgtcg gccaccgaca cacaccacgt ggagatggct cgggagcgct ccaagaccgt
      421 cacctccttt tacaaccagt cggccatcga cgcggcagcg gagaagccct cagtccgcct
      481 aacgcccacc atgatgctct acgctggccg ctctcaggac ggcagccacc ttctgaaaag
      541 tgctcggtac ctgcagcaag aacttccagt gaggattgct caccgcatca agggcttccg
      601 ctgccttcct ttcatcattg gctgcaaccc caccatactg cacgtgcatg agctatatat
      661 ccgtgccttc cagaagctga cagacttccc tccgatcaag gaccaggcgg acgaggccca
      721 gtactgccag ctggtgcgac agctgctgga tgaccacaag gatgtggtga ccctcttggc
      781 agagggccta cgtgagagcc ggaagcacat agaggatgaa aagctcgtcc gctacttctt
      841 ggacaagacg ctgacttcga ggcttggaat ccgcatgttg gccacgcatc acctggcgct
      901 gcatgaggac aagcctgact ttgtcggcat catctgtact cgtctctcac caaagaagat
      961 tattgagaag tgggtggact ttgccagacg cctgtgtgag cacaagtatg gcaatgcgcc
     1021 ccgtgtccgc atcaatggcc atgtggctgc ccggttcccc ttcatcccta tgccactgga
     1081 ctacatcctg ccggagctgc tcaagaatgc catgagagcc acaatggaga gtcacctaga
     1141 cactccctac aatgtcccag atgtggtcat caccatcgcc aacaatgatg tcgatctgat
     1201 catcaggatc tcagaccgtg gtggaggaat cgctcacaaa gatctggacc gggtcatgga
     1261 ctaccacttc actactgctg aggccagcac acaggacccc cggatcagcc ccctctttgg
     1321 ccatctggac atgcatagtg gcgcccagtc aggacccatg cacggctttg gcttcgggtt
     1381 gcccacgtca cgggcctacg cggagtacct cggtgggtct ctgcagctgc agtccctgca
     1441 gggcattggc acggacgtct acctgcggct ccgccacatc gatggccggg aggaaagctt
     1501 ccggatctga ccccacagcc tttggcctgc tcacccgacc agcctgggcc gcattccctg
     1561 caggacctcc cgggtcaggc agggcggccc cctgctccac acactgctgc atcttgggtc
     1621 tcagggaccc agacagatgg acttacatgg agctgggcac tgccctgcct caacagggtc
     1681 cattgcctcc tcgcctccag aacttggagc agggaagtgg gcaccctgag gcctccagca
     1741 ccagttccgt cattctcgtt cctggggaac ccccactctg acctgttatt aaagttcaca
     1801 ttttgaatgc cctctcgggc cccgtgtgtg gggagggcag gtgaactttt gtttctgccc
     1861 ccattcaggt tcactgagcc cttgggttga actggttcgt gtcccagtct cttacctgcc
     1921 ctgagagcct ggcaggccag gagtagaatg ggtcccaagt ctgttgcatg tttgatttgg
     1981 tgggagtggg atgactgcag caccttatac aaagagcttt cattcatctt gttgaa
//
