LOCUS       NM_001398               1200 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens enoyl-CoA hydratase 1 (ECH1), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001398
VERSION     NM_001398.3
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 1200)
  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 1200)
  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   3  (bases 1 to 1200)
  AUTHORS   Liu,B., Yi,W., Mao,X., Yang,L. and Rao,C.
  TITLE     Enoyl coenzyme A hydratase 1 alleviates nonalcoholic
            steatohepatitis in mice by suppressing hepatic ferroptosis
  JOURNAL   Am J Physiol Endocrinol Metab 320 (5), E925-E937 (2021)
   PUBMED   33813878
  REMARK    GeneRIF: Enoyl coenzyme A hydratase 1 alleviates nonalcoholic
            steatohepatitis in mice by suppressing hepatic ferroptosis.
REFERENCE   4  (bases 1 to 1200)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1200)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   6  (bases 1 to 1200)
  AUTHORS   Kovalyov,L.I., Kovalyova,M.A., Kovalyov,P.L., Serebryakova,M.V.,
            Moshkovskii,S.A. and Shishkin,S.S.
  TITLE     Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the
            ECH1 gene product protein) in human striated muscle tissue
  JOURNAL   Biochemistry (Mosc) 71 (4), 448-453 (2006)
   PUBMED   16615866
  REMARK    GeneRIF: Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A
            isomerase (the ECH1 gene product protein) in human striated muscle
            tissue
REFERENCE   7  (bases 1 to 1200)
  AUTHORS   Goehler,H., Lalowski,M., Stelzl,U., Waelter,S., Stroedicke,M.,
            Worm,U., Droege,A., Lindenberg,K.S., Knoblich,M., Haenig,C.,
            Herbst,M., Suopanki,J., Scherzinger,E., Abraham,C., Bauer,B.,
            Hasenbank,R., Fritzsche,A., Ludewig,A.H., Bussow,K., Coleman,S.H.,
            Gutekunst,C.A., Landwehrmeyer,B.G., Lehrach,H. and Wanker,E.E.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
REFERENCE   8  (bases 1 to 1200)
  AUTHORS   Jia,Y., Qi,C., Zhang,Z., Hashimoto,T., Rao,M.S., Huyghe,S.,
            Suzuki,Y., Van Veldhoven,P.P., Baes,M. and Reddy,J.K.
  TITLE     Overexpression of peroxisome proliferator-activated receptor-alpha
            (PPARalpha)-regulated genes in liver in the absence of peroxisome
            proliferation in mice deficient in both L- and D-forms of enoyl-CoA
            hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation
            system
  JOURNAL   J Biol Chem 278 (47), 47232-47239 (2003)
   PUBMED   14500732
REFERENCE   9  (bases 1 to 1200)
  AUTHORS   Filppula,S.A., Yagi,A.I., Kilpelainen,S.H., Novikov,D.,
            FitzPatrick,D.R., Vihinen,M., Valle,D. and Hiltunen,J.K.
  TITLE     Delta3,5-delta2,4-dienoyl-CoA isomerase from rat liver. Molecular
            characterization
  JOURNAL   J Biol Chem 273 (1), 349-355 (1998)
   PUBMED   9417087
REFERENCE   10 (bases 1 to 1200)
  AUTHORS   FitzPatrick,D.R., Germain-Lee,E. and Valle,D.
  TITLE     Isolation and characterization of rat and human cDNAs encoding a
            novel putative peroxisomal enoyl-CoA hydratase
  JOURNAL   Genomics 27 (3), 457-466 (1995)
   PUBMED   7558027
  REMARK    GeneRIF: Possible roles for the ECH1 protein product in peroxisomal
            beta-oxidation are discussed.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017408.1, BC011792.2 and
            AV738478.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001398.2.
            
            Summary: This gene encodes a member of the hydratase/isomerase
            superfamily. The gene product shows high sequence similarity to
            enoyl-coenzyme A (CoA) hydratases of several species, particularly
            within a conserved domain characteristic of these proteins. The
            encoded protein, which contains a C-terminal peroxisomal targeting
            sequence, localizes to the peroxisome. The rat ortholog, which
            localizes to the matrix of both the peroxisome and mitochondria,
            can isomerize 3-trans,5-cis-dienoyl-CoA to
            2-trans,4-trans-dienoyl-CoA, indicating that it is a
            delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in
            the auxiliary step of the fatty acid beta-oxidation pathway.
            Expression of the rat gene is induced by peroxisome proliferators.
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR1163655.360432.1,
                                           SRR5189655.103444.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2155770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221418.9/ ENSP00000221418.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-143               BC017408.1         5-147
            144-396             BC011792.2         124-376
            397-1197            BC017408.1         401-1201
            1198-1200           AV738478.1         433-435
FEATURES             Location/Qualifiers
     source          1..1200
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1200
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /note="enoyl-CoA hydratase 1"
                     /db_xref="GeneID:1891"
                     /db_xref="HGNC:HGNC:3149"
                     /db_xref="MIM:600696"
     exon            1..74
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1009
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /note="dienoyl-CoA isomerase; enoyl Coenzyme A hydratase
                     1, peroxisomal; delta3,5-delta2,4-dienoyl-CoA isomerase;
                     enoyl-CoA hydratase 1, peroxisomal; peroxisomal enoyl-CoA
                     hydratase 1; delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase,
                     mitochondrial; delta3,5-delta2,4-dienoyl-coenzyme A
                     isomerase; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase,
                     mitochondrial precursor"
                     /protein_id="NP_001389.2"
                     /db_xref="CCDS:CCDS33014.1"
                     /db_xref="GeneID:1891"
                     /db_xref="HGNC:HGNC:3149"
                     /db_xref="MIM:600696"
                     /translation="MAAGIVASRRLRDLLTRRLTGSNYPGLSISLRLTGSSAQEEASG
                     VALGEAPDHSYESLRVTSAQKHVLHVQLNRPNKRNAMNKVFWREMVECFNKISRDADC
                     RAVVISGAGKMFTAGIDLMDMASDILQPKGDDVARISWYLRDIITRYQETFNVIERCP
                     KPVIAAVHGGCIGGGVDLVTACDIRYCAQDAFFQVKEVDVGLAADVGTLQRLPKVIGN
                     QSLVNELAFTARKMMADEALGSGLVSRVFPDKEVMLDAALALAAEISSKSPVAVQSTK
                     VNLLYSRDHSVAESLNYVASWNMSMLQTQDLVKSVQATTENKELKTVTFSKL"
     exon            75..282
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            283..371
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            372..496
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            497..545
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            546..610
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            611..681
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            682..753
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            754..904
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1200
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1182..1187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /note="hexamer: AATAAA"
     polyA_site      1200
                     /gene="ECH1"
                     /gene_synonym="HPXEL"
                     /note="major polyA site"
ORIGIN      
        1 gcagtagacg aaggcggcgg cgatggcggc ggggatagtg gcttctcgca gactccgcga
       61 cctactgacc cggcgactga caggctccaa ctacccggga ctcagtatta gccttcgcct
      121 cactggctcc tctgcacaag aggaggcttc cggagtagcc ctcggtgaag ccccagacca
      181 cagctatgag tcccttcgtg tgacgtctgc gcagaaacat gttctgcatg tccagctcaa
      241 ccggcccaac aagaggaatg ccatgaacaa ggtcttctgg agagagatgg tagagtgctt
      301 caacaagatt tcgagagacg ctgactgtcg ggcggtggtg atctctggtg caggaaaaat
      361 gttcactgca ggtattgacc tgatggacat ggcttcggac atcctgcagc ccaaaggaga
      421 tgatgtggcc cggatcagct ggtacctccg tgacatcatc actcgatacc aggagacctt
      481 caacgtcatc gagaggtgcc ccaagcccgt gattgctgcc gtccatgggg gctgcattgg
      541 cggaggtgtg gaccttgtca ccgcctgtga catccggtac tgtgcccagg atgctttctt
      601 ccaggtgaag gaggtggacg tgggtttggc tgccgatgta ggaacactgc agcgcctgcc
      661 caaggtcatc gggaaccaga gcctggtcaa cgagctggcc ttcaccgccc gcaagatgat
      721 ggctgacgag gccctgggca gtgggctggt cagccgggtg ttcccagaca aagaggtcat
      781 gctggatgct gccttagcgc tggcggccga gatttccagc aagagccccg tggcggtgca
      841 gagcaccaag gtcaacctgc tgtattcccg cgaccattcg gtggccgaga gcctcaacta
      901 cgtggcgtcc tggaacatga gcatgctgca gacccaagac ctcgtgaagt cggtccaggc
      961 cacgactgag aacaaggaac tgaaaaccgt caccttctcc aagctctgag agccctcgcg
     1021 tcccaggccc cagccagggg gccggccttg tcccgcctca tccacagaaa gggaggatgg
     1081 gcgatgacag ttgtttctat gccttctgac ccagtttccc agtttataac tttatgacaa
     1141 tgagtttctc aagcccaagg ccttatcttc accccacaaa caataaagca aagtaaagaa
//
