LOCUS       NM_000183               1997 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens hydroxyacyl-CoA dehydrogenase trifunctional
            multienzyme complex subunit beta (HADHB), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000183
VERSION     NM_000183.3
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 1997)
  AUTHORS   Sekine,Y., Yamamoto,K., Kurata,M., Honda,A., Onishi,I.,
            Kinowaki,Y., Kawade,G., Watabe,S., Nomura,S., Fukuda,S.,
            Ishibashi,S., Ikeda,M., Yamamoto,M. and Kitagawa,M.
  TITLE     HADHB, a fatty acid beta-oxidation enzyme, is a potential
            prognostic predictor in malignant lymphoma
  JOURNAL   Pathology 54 (3), 286-293 (2022)
   PUBMED   34531036
  REMARK    GeneRIF: HADHB, a fatty acid beta-oxidation enzyme, is a potential
            prognostic predictor in malignant lymphoma.
REFERENCE   2  (bases 1 to 1997)
  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 1997)
  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   4  (bases 1 to 1997)
  AUTHORS   Dagher,R., Massie,R. and Gentil,B.J.
  TITLE     MTP deficiency caused by HADHB mutations: Pathophysiology and
            clinical manifestations
  JOURNAL   Mol Genet Metab 133 (1), 1-7 (2021)
   PUBMED   33744096
  REMARK    GeneRIF: MTP deficiency caused by HADHB mutations: Pathophysiology
            and clinical manifestations.
            Review article
REFERENCE   5  (bases 1 to 1997)
  AUTHORS   Orii,K.E., Orii,K.O., Souri,M., Orii,T., Kondo,N., Hashimoto,T. and
            Aoyama,T.
  TITLE     Genes for the human mitochondrial trifunctional protein alpha- and
            beta-subunits are divergently transcribed from a common promoter
            region
  JOURNAL   J Biol Chem 274 (12), 8077-8084 (1999)
   PUBMED   10075708
REFERENCE   6  (bases 1 to 1997)
  AUTHORS   Orii,K.E., Aoyama,T., Wakui,K., Fukushima,Y., Miyajima,H.,
            Yamaguchi,S., Orii,T., Kondo,N. and Hashimoto,T.
  TITLE     Genomic and mutational analysis of the mitochondrial trifunctional
            protein beta-subunit (HADHB) gene in patients with trifunctional
            protein deficiency
  JOURNAL   Hum Mol Genet 6 (8), 1215-1224 (1997)
   PUBMED   9259266
REFERENCE   7  (bases 1 to 1997)
  AUTHORS   Middleton,B.
  TITLE     The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA
            hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA
            thiolase
  JOURNAL   Biochem Soc Trans 22 (2), 427-431 (1994)
   PUBMED   7958339
  REMARK    Review article
REFERENCE   8  (bases 1 to 1997)
  AUTHORS   Kamijo,T., Aoyama,T., Komiyama,A. and Hashimoto,T.
  TITLE     Structural analysis of cDNAs for subunits of human mitochondrial
            fatty acid beta-oxidation trifunctional protein
  JOURNAL   Biochem Biophys Res Commun 199 (2), 818-825 (1994)
   PUBMED   8135828
REFERENCE   9  (bases 1 to 1997)
  AUTHORS   Prasun,P., LoPiccolo,M.K. and Ginevic,I.
  TITLE     Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional
            Protein Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36063482
REFERENCE   10 (bases 1 to 1997)
  AUTHORS   Carpenter,K., Pollitt,R.J. and Middleton,B.
  TITLE     Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a
            multifunctional membrane-bound beta-oxidation enzyme of
            mitochondria
  JOURNAL   Biochem Biophys Res Commun 183 (2), 443-448 (1992)
   PUBMED   1550553
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA835045.1, BC066963.1 and
            D16481.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000183.2.
            
            Summary: This gene encodes the beta subunit of the mitochondrial
            trifunctional protein, which catalyzes the last three steps of
            mitochondrial beta-oxidation of long chain fatty acids. The
            mitochondrial membrane-bound heterocomplex is composed of four
            alpha and four beta subunits, with the beta subunit catalyzing the
            3-ketoacyl-CoA thiolase activity. The encoded protein can also bind
            RNA and decreases the stability of some mRNAs. The genes of the
            alpha and beta subunits of the mitochondrial trifunctional protein
            are located adjacent to each other in the human genome in a
            head-to-head orientation. Mutations in this gene result in
            trifunctional protein deficiency. Alternatively spliced transcript
            variants encoding different isoforms have been described. [provided
            by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: BC066963.1, SRR1803615.269791.1
                                           [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. :: inferred from homology
            MANE Ensembl match                 :: ENST00000317799.10/
                                                  ENSP00000325136.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-344               DA835045.1         187-530
            345-1620            BC066963.1         372-1647
            1621-1997           D16481.1           1607-1983
FEATURES             Location/Qualifiers
     source          1..1997
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1997
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="hydroxyacyl-CoA dehydrogenase trifunctional
                     multienzyme complex subunit beta"
                     /db_xref="GeneID:3032"
                     /db_xref="HGNC:HGNC:4803"
                     /db_xref="MIM:143450"
     exon            1..52
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            53..124
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1485
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /EC_number="2.3.1.16"
                     /EC_number="2.3.1.155"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; hydroxyacyl-Coenzyme A
                     dehydrogenase/3-ketoacyl-Coenzyme A
                     thiolase/enoyl-Coenzyme A hydratase (trifunctional
                     protein), beta subunit; 3-ketoacyl-Coenzyme A (CoA)
                     thiolase of mitochondrial trifunctional protein, beta
                     subunit; 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit;
                     beta-ketothiolase; acetyl-CoA acyltransferase;
                     trifunctional enzyme subunit beta, mitochondrial;
                     hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA
                     thiolase/enoyl-CoA hydratase (trifunctional protein), beta
                     subunit"
                     /codon_start=1
                     /product="trifunctional enzyme subunit beta, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_000174.1"
                     /db_xref="CCDS:CCDS1722.1"
                     /db_xref="GeneID:3032"
                     /db_xref="HGNC:HGNC:4803"
                     /db_xref="MIM:143450"
                     /translation="MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKK
                     TLAKPNIRNVVVVDGVRTPFLLSGTSYKDLMPHDLARAALTGLLHRTSVPKEVVDYII
                     FGTVIQEVKTSNVAREAALGAGFSDKTPAHTVTMACISANQAMTTGVGLIASGQCDVI
                     VAGGVELMSDVPIRHSRKMRKLMLDLNKAKSMGQRLSLISKFRFNFLAPELPAVSEFS
                     TSETMGHSADRLAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVT
                     KDNGIRPSSLEQMAKLKPAFIKPYGTVTAANSSFLTDGASAMLIMAEEKALAMGYKPK
                     AYLRDFMYVSQDPKDQLLLGPTYATPKVLEKAGLTMNDIDAFEFHEAFSGQILANFKA
                     MDSDWFAENYMGRKTKVGLPPLEKFNNWGGSLSLGHPFGATGCRLVMAAANRLRKEGG
                     QYGLVAACAAGGQGHAMIVEAYPK"
     exon            125..169
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            170..269
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            270..314
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            315..414
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            415..502
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            503..690
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            691..871
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            872..993
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1073
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1121
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1209
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1284
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1449
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1997
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="hexamer: AATAAA"
     polyA_site      1997
                     /gene="HADHB"
                     /gene_synonym="ECHB; MSTP029; MTPB; MTPD; MTPD2; TP-BETA"
                     /note="major polyA site"
ORIGIN      
        1 acttggacct gaaccttgct ccgagaggga gtcctcgcgg acgtcagcca agattccaga
       61 atgactatct tgacttaccc ctttaaaaat cttcccactg catcaaaatg ggccctcaga
      121 ttttccataa gacctctgag ctgttcctcc cagctacgag ctgccccagc tgtccagacc
      181 aaaacgaaga agacgttagc caaacccaat ataaggaatg ttgtggtggt ggatggtgtt
      241 cgcactccat ttttgctgtc tggcacttca tataaagacc tgatgccaca tgatttggct
      301 agagcagcgc ttacgggttt gttgcatcgg accagtgtcc ctaaggaagt agttgattat
      361 atcatctttg gtacagttat tcaggaagtg aaaacaagca atgtggctag agaggctgcc
      421 cttggagctg gcttctctga caagactcct gctcacactg tcaccatggc ttgtatctct
      481 gccaaccaag ccatgaccac aggtgttggc ttgattgctt ctggccagtg tgatgtgatc
      541 gtggcaggtg gtgttgagtt gatgtccgat gtccctattc gtcactcaag gaaaatgaga
      601 aaactgatgc ttgatctcaa taaggccaaa tctatgggcc agcgactgtc tttaatctct
      661 aaattccgat ttaatttcct agcacctgag ctccctgcgg tttctgagtt ctccaccagt
      721 gagaccatgg gccactctgc agaccgactg gccgctgcct ttgctgtttc tcggctggaa
      781 caggatgaat atgcactgcg ctctcacagt ctagccaaga aggcacagga tgaaggactc
      841 ctttctgatg tggtaccctt caaagtacca ggaaaagata cagttaccaa agataatggc
      901 atccgtcctt cctcactgga gcagatggcc aaactaaaac ctgcattcat caagccctac
      961 ggcacagtga cagctgcaaa ttcttctttc ttgactgatg gtgcatctgc aatgttaatc
     1021 atggcggagg aaaaggctct ggccatgggt tataagccga aggcatattt gagggatttt
     1081 atgtatgtgt ctcaggatcc aaaagatcaa ctattacttg gaccaacata tgctactcca
     1141 aaagttctag aaaaggcagg attgaccatg aatgatattg atgcttttga atttcatgaa
     1201 gctttctcgg gtcagatttt ggcaaatttt aaagccatgg attctgattg gtttgcagaa
     1261 aactacatgg gtagaaaaac caaggttgga ttgcctcctt tggagaagtt taataactgg
     1321 ggtggatctc tgtccctggg acacccattt ggagccactg gctgcaggtt ggtcatggct
     1381 gctgccaaca gattacggaa agaaggaggc cagtatggct tagtggctgc gtgtgcagct
     1441 ggagggcagg gccatgctat gatagtggaa gcttatccaa aataatagat ccagaagaag
     1501 tgacctgaag tttctgtgca acactcacac taggcaatgc catttcaatg cattactaaa
     1561 tgacatttgt agttcctagc tcctcttagg aaaacagttc ttgtggcctt ctattaaata
     1621 gtttgcactt aagccttgcc agtgttctga gcttttcaat aatcagttta ctgctctttc
     1681 agggatttct aagccaccag aatctcacat gagatgtgtg ggtggttgtt tttggtctct
     1741 gttgtcacta aagactaaat gagggtttgc agttgggaaa gaggtcaact gagatttgga
     1801 aatcatcttt gtaatatttg caaattatac ttgttcttat ctgtgtccta aagatgtgtt
     1861 ctctataaaa tacaaaccaa cgtgcctaat taattatgga aaaataattc agaatctaaa
     1921 caccactgaa aacttataaa aaatgtttag atacataaat atggtggtca gcgttaataa
     1981 agtggagaaa tattgga
//
