LOCUS       NM_001966               3801 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens enoyl-CoA hydratase and 3-hydroxyacyl CoA
            dehydrogenase (EHHADH), transcript variant 1, mRNA.
ACCESSION   NM_001966
VERSION     NM_001966.4
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 3801)
  AUTHORS   Lee,J., Kim,G., Han,T.S., Jung,E., Son,T., Kim,K., Kwon,K., Roh,Y.,
            Ryu,T.Y., Tae,I.H., Kang,Y., Lee,B., Lee,Y.R., Park,S.Y., Tak,W.Y.,
            Kim,D.S., Son,M.Y., Hur,K. and Cho,H.S.
  TITLE     Positive regulation of cell proliferation by the miR-1290-EHHADH
            axis in hepatocellular carcinoma
  JOURNAL   Cancer Commun (Lond) 44 (6), 705-709 (2024)
   PUBMED   38498379
  REMARK    GeneRIF: Positive regulation of cell proliferation by the
            miR-1290-EHHADH axis in hepatocellular carcinoma.
REFERENCE   2  (bases 1 to 3801)
  AUTHORS   Xie,S., Li,M., Jiang,F., Yi,Q. and Yang,W.
  TITLE     [EHHADH is a key gene in fatty acid metabolism pathways in
            hepatocellular carcinoma: a transcriptomic analysis]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (5), 680-693 (2023)
   PUBMED   37313808
  REMARK    GeneRIF: [EHHADH is a key gene in fatty acid metabolism pathways in
            hepatocellular carcinoma: a transcriptomic analysis].
REFERENCE   3  (bases 1 to 3801)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   4  (bases 1 to 3801)
  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 3801)
  AUTHORS   Okamura,S., Yoshino,H., Kuroshima,K., Tsuruda,M., Osako,Y.,
            Sakaguchi,T., Yonemori,M., Yamada,Y., Tatarano,S., Nakagawa,M. and
            Enokida,H.
  TITLE     EHHADH contributes to cisplatin resistance through regulation by
            tumor-suppressive microRNAs in bladder cancer
  JOURNAL   BMC Cancer 21 (1), 48 (2021)
   PUBMED   33430801
  REMARK    GeneRIF: EHHADH contributes to cisplatin resistance through
            regulation by tumor-suppressive microRNAs in bladder cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3801)
  AUTHORS   Ferdinandusse,S., Denis,S., Van Roermund,C.W., Wanders,R.J. and
            Dacremont,G.
  TITLE     Identification of the peroxisomal beta-oxidation enzymes involved
            in the degradation of long-chain dicarboxylic acids
  JOURNAL   J Lipid Res 45 (6), 1104-1111 (2004)
   PUBMED   15060085
REFERENCE   7  (bases 1 to 3801)
  AUTHORS   Espeel,M. and Van Limbergen,G.
  TITLE     Immunocytochemical localization of peroxisomal proteins in human
            liver and kidney
  JOURNAL   J Inherit Metab Dis 18 Suppl 1, 135-154 (1995)
   PUBMED   9053548
REFERENCE   8  (bases 1 to 3801)
  AUTHORS   Hoefler,G., Forstner,M., McGuinness,M.C., Hulla,W., Hiden,M.,
            Krisper,P., Kenner,L., Ried,T., Lengauer,C., Zechner,R. et al.
  TITLE     cDNA cloning of the human peroxisomal enoyl-CoA hydratase:
            3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme and
            localization to chromosome 3q26.3-3q28: a free left Alu Arm is
            inserted in the 3' noncoding region
  JOURNAL   Genomics 19 (1), 60-67 (1994)
   PUBMED   8188243
REFERENCE   9  (bases 1 to 3801)
  AUTHORS   Chen,G.L., Balfe,A., Erwa,W., Hoefler,G., Gaertner,J., Aikawa,J.
            and Chen,W.W.
  TITLE     Import of human bifunctional enzyme into peroxisomes of human
            hepatoma cells in vitro
  JOURNAL   Biochem Biophys Res Commun 178 (3), 1084-1091 (1991)
   PUBMED   1651711
REFERENCE   10 (bases 1 to 3801)
  AUTHORS   Litwin,J.A., Volkl,A., Muller-Hocker,J. and Fahimi,H.D.
  TITLE     Immunocytochemical demonstration of peroxisomal enzymes in human
            kidney biopsies
  JOURNAL   Virchows Arch B Cell Pathol Incl Mol Pathol 54 (4), 207-213 (1988)
   PUBMED   2895531
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC418722.1 and BC038948.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001966.3.
            
            Summary: The protein encoded by this gene is a bifunctional enzyme
            and is one of the four enzymes of the peroxisomal beta-oxidation
            pathway. The N-terminal region of the encoded protein contains
            enoyl-CoA hydratase activity while the C-terminal region contains
            3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are
            a cause of peroxisomal disorders such as Zellweger syndrome. Two
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1660809.189857.1, L07077.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000231887.8/ ENSP00000231887.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DC418722.1         50-70
            22-3801             BC038948.1         12-3791
FEATURES             Location/Qualifiers
     source          1..3801
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.2"
     gene            1..3801
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /note="enoyl-CoA hydratase and 3-hydroxyacyl CoA
                     dehydrogenase"
                     /db_xref="GeneID:1962"
                     /db_xref="HGNC:HGNC:3247"
                     /db_xref="MIM:607037"
     exon            1..101
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..2199
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /EC_number="1.1.1.35"
                     /EC_number="5.3.3.8"
                     /EC_number="4.2.1.17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A
                     dehydrogenase; peroxisomal bifunctional enzyme;
                     L-bifunctional protein, peroxisomal; 3,2-trans-enoyl-CoA
                     isomerase; peroxisomal enoyl-CoA hydratase; enoyl-CoA,
                     hydratase/3-hydroxyacyl CoA dehydrogenase;
                     L-3-hydroxyacyl-CoA dehydrogenase; PBE; multifunctional
                     enzyme 1"
                     /codon_start=1
                     /product="peroxisomal bifunctional enzyme isoform 1"
                     /protein_id="NP_001957.2"
                     /db_xref="CCDS:CCDS33901.1"
                     /db_xref="GeneID:1962"
                     /db_xref="HGNC:HGNC:3247"
                     /db_xref="MIM:607037"
                     /translation="MAEYTRLHNALALIRLRNPPVNAISTTLLRDIKEGLQKAVIDHT
                     IKAIVICGAEGKFSAGADIRGFSAPRTFGLTLGHVVDEIQRNEKPVVAAIQGMAFGGG
                     LELALGCHYRIAHAEAQVGLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILA
                     DEALKLGILDKVVNSDPVEEAIRFAQRVSDQPLESRRLCNKPIQSLPNMDSIFSEALL
                     KMRRQHPGCLAQEACVRAVQAAVQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAER
                     KANKWSTPSGASWKTASARPVSSVGVVGLGTMGRGIVISFARARIPVIAVDSDKNQLA
                     TANKMITSVLEKEASKMQQSGHPWSGPKPRLTSSVKELGGVDLVIEAVFEEMSLKKQV
                     FAELSAVCKPEAFLCTNTSALDVDEIASSTDRPHLVIGTHFFSPAHVMKLLEVIPSQY
                     SSPTTIATVMNLSKKIKKIGVVVGNCFGFVGNRMLNPYYNQAYFLLEEGSKPEEVDQV
                     LEEFGFKMGPFRVSDLAGLDVGWKSRKGQGLTGPTLLPGTPARKRGNRRYCPIPDVLC
                     ELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFLSRYRKTHHIEPRTISQDEILERCL
                     YSLINEAFRILGEGIAASPEHIDVVYLHGYGWPRHKGGPMFYASTVGLPTVLEKLQKY
                     YRQNPDIPQLEPSDYLKKLASQGNPPLKEWQSLAGSPSSKL"
     exon            102..205
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /inference="alignment:Splign:2.1.0"
     exon            206..378
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /inference="alignment:Splign:2.1.0"
     exon            379..490
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /inference="alignment:Splign:2.1.0"
     exon            491..595
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /inference="alignment:Splign:2.1.0"
     exon            596..937
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /inference="alignment:Splign:2.1.0"
     exon            938..3801
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3775..3780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /note="hexamer: AATAAA"
     polyA_site      3801
                     /gene="EHHADH"
                     /gene_synonym="ECHD; FRTS3; L-PBE; LBFP; LBP; MFE1; PBFE"
                     /note="major polyA site"
ORIGIN      
        1 agaggtgccc tcggtgatag aggaaacatg gccgagtata cgcggctgca caacgccttg
       61 gcgctaatcc gcctccgaaa cccgccggtc aacgcgatca gtacgacttt actccgtgac
      121 ataaaagaag gactacagaa agctgtaata gaccatacaa taaaagccat tgtgatttgt
      181 ggagcagagg gcaaattttc tgcaggtgct gatattcgtg gcttcagtgc tcctaggaca
      241 tttggcctta cactgggaca tgtagtagat gaaatacaga gaaatgagaa gcccgtggtg
      301 gcagcaatcc aaggcatggc tttcggaggg ggactagagc tggccctggg ctgtcactat
      361 aggattgccc acgcagaggc tcaagttggc ttaccagaag ttacactggg acttctccct
      421 ggtgcaagag gaacccagct tctccccaga ctcactggag ttcctgctgc acttgactta
      481 attacctcag gaagacgtat tttagcagat gaagcactca agctgggcat tctagataaa
      541 gttgtaaact cagacccggt tgaagaagca atcagatttg ctcagagagt ttcagatcaa
      601 cctctagaat cccgtagact ctgcaacaag ccaattcaga gcttgcccaa catggacagc
      661 atttttagtg aggccctctt gaagatgcgg aggcagcacc ctgggtgtct tgcacaggag
      721 gcttgtgtcc gtgcagtcca ggctgctgtg cagtatccct atgaagtggg catcaagaag
      781 gaggaggagc tgtttctata tcttttgcaa tcagggcagg ctagagccct gcaatatgct
      841 ttcttcgctg aaaggaaagc aaataagtgg tcaactccct ccggagcatc gtggaaaaca
      901 gcatcagcgc ggcctgtctc ctcagttggt gttgttggct tgggaacaat gggccgaggc
      961 attgtcattt cttttgcaag ggccaggatt cctgtgattg ctgtagactc ggacaaaaac
     1021 cagctagcaa ctgcaaacaa gatgataacc tctgtcttgg aaaaagaagc ctccaaaatg
     1081 caacagagcg gccacccttg gtcaggacca aaacccaggt taacttcatc tgtgaaggag
     1141 cttggtggtg tagatttagt cattgaagca gtatttgagg aaatgagcct gaagaagcag
     1201 gtctttgctg aactctcagc tgtgtgcaaa ccagaagcat ttttgtgcac taatacttca
     1261 gccctggatg ttgatgagat tgcttcttcc actgatcgtc ctcacttggt cattggcacc
     1321 cacttctttt cgccagctca tgtcatgaag ttgttagagg ttattcccag ccaatactct
     1381 tcccccacta ccattgccac tgttatgaac ttatcaaaaa agattaaaaa gattggagtc
     1441 gttgtaggca actgttttgg atttgtgggg aatcgaatgt tgaatcctta ctacaatcag
     1501 gcatatttct tgttagaaga aggcagcaaa ccagaggagg tagatcaggt gctggaagag
     1561 tttggtttta aaatgggacc ttttagagtg tctgatcttg ctgggttgga tgtgggctgg
     1621 aaatctagaa aggggcaagg tcttactgga cctacattgc ttccaggaac tcctgcccga
     1681 aaaaggggta ataggaggta ctgcccaatt cctgatgtgc tctgtgaatt aggacgattt
     1741 ggccagaaga caggtaaggg ttggtatcaa tatgacaagc cattgggtag gattcacaaa
     1801 cctgatccct ggctttccaa attcctatca cggtatagaa aaacccatca cattgaacca
     1861 cgtaccatta gccaggatga gatccttgaa cgctgcttat attcacttat caatgaagca
     1921 ttccgtatct tgggagaagg gatagctgct agcccagagc acattgatgt tgtctattta
     1981 catggatatg gatggccaag gcacaagggc gggcccatgt tctatgcttc cacagttggg
     2041 ttgcccacag ttctagagaa attgcagaaa tattacaggc agaaccctga tattccccaa
     2101 ctggagccaa gtgactatct aaaaaaactg gcttctcagg gaaaccctcc cctgaaagaa
     2161 tggcaaagct tggcaggctc ccctagcagt aaattgtgat tcagtcttcc agattatgcc
     2221 tcacatgcta gcatcaggta atgctgactg aatttcagtg aaattaaatc aaaaatccaa
     2281 agtaagattg ttctgaaata caaagcaaaa taaataatca ttagaatctt ctgtgtaacg
     2341 actctaatgg tcaaatcttt aggaatgtgc ttcctatgcc tctgaatctg tccttatcag
     2401 ataaattcaa tgcatgaact tgtgtgaata taataccata atagctaatg aaagaggctc
     2461 aggcataagt tgagattctc aaatgctttt atcattggat aaatgtgtca tcaattaata
     2521 aatgataaat gcagctaagt catacattca ttttgactcc tttcaatgtc acacacatag
     2581 tattgatcag aaatcttatg aatcatacat acactcaaca aacattaaag ttgtaggaaa
     2641 aagacagttg gaaattggta agggaactga gtacttcaaa ccagcacagg gaacttaggt
     2701 tagtgtggca agcctttcct cttctggtct ttcctcttct gtttatggag aaataataga
     2761 aagtagtaag tcgttaactt agtgtaagaa gggtcttaga gaacatctaa ccttctagga
     2821 tttcccaatt ctgtgataga gtaatgacac cagttttcct gtcatgacaa gcctctgtga
     2881 tgttacatat ggaaatggtt gaatcttgaa aaatctaaaa ttgttgcaaa acatattttg
     2941 tatgattttg ttgtaagagt tcttctcttt ttactttttg ccttgtgtag ttaaaaatta
     3001 aggggctggt caatacaaaa acttgtacac aaatatttat agcagaatta ttcataatgg
     3061 ccaaaagctg aatacaaccc aaatgtctat gaactaatga atagataaac caaatctggt
     3121 atatccatac aatggactat attattcagc cataaaaaga aataaagggc caggcacagt
     3181 ggctcacacc tgtaatccca gcactttggg aggctgaggc aggaggattg tttgaggcca
     3241 gaaatttgag accagcctgg gcaacatagc aaaaccctgt ctctacaaaa aatactttcc
     3301 gtacattagt ggttgcctaa ggctagaatt gggggtgatg aatggggagt acaggattca
     3361 tctaatgggt acaggatttc tttatggttc atgaaaatgg tctaaactta ttgtggtaat
     3421 ggtcacataa caatatatta aaaaccattg agttgtatat tttaagtggg tgaattatat
     3481 ggtatgtgaa ttatatctca ataaagttgt tagtaaataa atggggctga agatgttatc
     3541 cttcattgtg gtgtaaatga actttcacaa tattttcacc tgtgaaccca aataaaatga
     3601 ttaaagttct gatggaaaaa tcttgaatgg agtataagtt ttccgttgtt aaaaagcaaa
     3661 caaaaaacca acaaaaaatc caagtgtgcc ttgaattgta cagagcacaa ttattatgtt
     3721 tgaaatgtgt actacttaat tttatataat ttggtttgtg aaattaaaga catcaataaa
     3781 aatgattcct gaaagtagta a
//
