LOCUS       NM_004092               1277 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens enoyl-CoA hydratase, short chain 1 (ECHS1), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_004092
VERSION     NM_004092.4
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 1277)
  AUTHORS   Maalej,M., Sfaihi,L., Fersi,O.A., Khabou,B., Ammar,M., Felhi,R.,
            Kharrat,M., Chouchen,J., Kammoun,T., Tlili,A. and Fakhfakh,F.
  TITLE     Molecular and in silico investigation of a novel ECHS1 gene
            mutation in a consanguine family with short-chain enoyl-CoA
            hydratase deficiency and Mt-DNA depletion: effect on trimer
            assembly and catalytic activity
  JOURNAL   Metab Brain Dis 39 (4), 611-623 (2024)
   PUBMED   38363494
  REMARK    GeneRIF: Molecular and in silico investigation of a novel ECHS1
            gene mutation in a consanguine family with short-chain enoyl-CoA
            hydratase deficiency and Mt-DNA depletion: effect on trimer
            assembly and catalytic activity.
REFERENCE   2  (bases 1 to 1277)
  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 1277)
  AUTHORS   Li,R., Hao,Y., Wang,Q., Meng,Y., Wu,K., Liu,C., Xu,L., Liu,Z. and
            Zhao,L.
  TITLE     ECHS1, an interacting protein of LASP1, induces
            sphingolipid-metabolism imbalance to promote colorectal cancer
            progression by regulating ceramide glycosylation
  JOURNAL   Cell Death Dis 12 (10), 911 (2021)
   PUBMED   34615856
  REMARK    GeneRIF: ECHS1, an interacting protein of LASP1, induces
            sphingolipid-metabolism imbalance to promote colorectal cancer
            progression by regulating ceramide glycosylation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1277)
  AUTHORS   Du,Z., Zhang,X., Gao,W. and Yang,J.
  TITLE     Differentially expressed genes PCCA, ECHS1, and HADH are potential
            prognostic biomarkers for gastric cancer
  JOURNAL   Sci Prog 104 (2), 368504211011344 (2021)
   PUBMED   33881965
  REMARK    GeneRIF: Differentially expressed genes PCCA, ECHS1, and HADH are
            potential prognostic biomarkers for gastric cancer.
REFERENCE   5  (bases 1 to 1277)
  AUTHORS   Simon,M.T., Eftekharian,S.S., Ferdinandusse,S., Tang,S., Naseri,T.,
            Reupena,M.S., McGarvey,S.T., Minster,R.L., Weeks,D.E., Nguyen,D.D.,
            Lee,S., Ellsworth,K.A., Vaz,F.M., Dimmock,D., Pitt,J. and
            Abdenur,J.E.
  CONSRTM   Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study
            Group
  TITLE     ECHS1 disease in two unrelated families of Samoan descent: Common
            variant - rare disorder
  JOURNAL   Am J Med Genet A 185 (1), 157-167 (2021)
   PUBMED   33112498
  REMARK    GeneRIF: ECHS1 disease in two unrelated families of Samoan descent:
            Common variant - rare disorder.
REFERENCE   6  (bases 1 to 1277)
  AUTHORS   Jackson,S., Schaefer,J., Middleton,B. and Turnbull,D.M.
  TITLE     Characterisation of a novel enzyme of human fatty acid
            beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA
            hydratase
  JOURNAL   Biochem Biophys Res Commun 214 (1), 247-253 (1995)
   PUBMED   7669045
REFERENCE   7  (bases 1 to 1277)
  AUTHORS   Ganetzky,R. and Stojinski,C.
  TITLE     Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31219693
REFERENCE   8  (bases 1 to 1277)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   9  (bases 1 to 1277)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   10 (bases 1 to 1277)
  AUTHORS   Li,J., Norwood,D.L., Mao,L.F. and Schulz,H.
  TITLE     Mitochondrial metabolism of valproic acid
  JOURNAL   Biochemistry 30 (2), 388-394 (1991)
   PUBMED   1988037
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI091611.1, BC008906.2,
            BE906357.1 and BQ130816.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004092.3.
            
            Summary: The protein encoded by this gene functions in the second
            step of the mitochondrial fatty acid beta-oxidation pathway. It
            catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA)
            intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member
            of the hydratase/isomerase superfamily. It localizes to the
            mitochondrial matrix. Transcript variants utilizing alternative
            transcription initiation sites have been described in the
            literature. [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 :: SRR3476690.102172.1,
                                           SRR5189652.169920.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000368547.4/
                                                  ENSP00000357535.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 BI091611.1         355-361
            8-244               BC008906.2         1-237
            245-324             BE906357.1         213-292
            325-873             BQ130816.1         10-558
            874-1277            BC008906.2         867-1270
FEATURES             Location/Qualifiers
     source          1..1277
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     gene            1..1277
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /note="enoyl-CoA hydratase, short chain 1"
                     /db_xref="GeneID:1892"
                     /db_xref="HGNC:HGNC:3151"
                     /db_xref="MIM:602292"
     exon            1..109
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..894
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /EC_number="5.3.3.8"
                     /EC_number="4.2.1.17"
                     /note="enoyl Coenzyme A hydratase, short chain, 1,
                     mitochondrial; enoyl-CoA hydratase, short chain, 1,
                     mitochondrial; short chain enoyl-CoA hydratase; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="enoyl-CoA hydratase, mitochondrial"
                     /protein_id="NP_004083.3"
                     /db_xref="CCDS:CCDS7681.1"
                     /db_xref="GeneID:1892"
                     /db_xref="HGNC:HGNC:3151"
                     /db_xref="MIM:602292"
                     /translation="MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKN
                     NTVGLIQLNRPKALNALCDGLIDELNQALKTFEEDPAVGAIVLTGGDKAFAAGADIKE
                     MQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQF
                     AQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETL
                     VEEAIQCAEKIASNSKIVVAMAKESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGM
                     TAFVEKRKANFKDQ"
     exon            110..307
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            308..435
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            436..535
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            536..640
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            641..760
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            761..828
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     exon            829..1277
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1253..1258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /note="hexamer: ATTAAA"
     polyA_site      1277
                     /gene="ECHS1"
                     /gene_synonym="ECHS1D; mECH; mECH1; SCEH"
                     /note="major polyA site"
ORIGIN      
        1 gggcgaggag tccagagagc catggccgcc ctgcgtgtcc tgctgtcctg cgtccgcggc
       61 ccgctgaggc ccccggttcg ctgtcccgcc tggcgtccct tcgcctcggg tgctaacttt
      121 gagtacatca tcgcagaaaa aagagggaag aataacaccg tggggttgat ccaactgaac
      181 cgccccaagg ccctcaatgc actttgcgat ggcctgattg acgagctcaa ccaggccctg
      241 aagaccttcg aggaggaccc ggccgtgggg gccattgtcc tcaccggcgg ggataaggcc
      301 tttgcagctg gagctgatat caaggaaatg cagaacctga gtttccagga ctgttactcc
      361 agcaagttct tgaagcactg ggaccacctc acccaggtca agaagccagt catcgctgct
      421 gtcaatggct atgcctttgg cgggggctgt gagcttgcca tgatgtgtga tatcatctat
      481 gccggtgaga aggcccagtt tgcacagccg gagatcttaa taggaaccat cccaggtgcg
      541 ggcggcaccc agagactcac ccgtgctgtt gggaagtcgc tggcgatgga gatggtcctc
      601 actggtgacc ggatctcagc ccaggacgcc aagcaagcag gtcttgtcag caagatttgt
      661 cctgttgaga cactggtgga agaagccatc cagtgtgcag aaaaaattgc cagcaattct
      721 aaaattgtag tagcgatggc caaagaatca gtgaatgcag cttttgaaat gacattaaca
      781 gaaggaagta agttggagaa gaaactcttt tattcaacct ttgccactga tgaccggaaa
      841 gaagggatga ccgcgtttgt ggaaaagaga aaggccaact tcaaagacca gtgagaacca
      901 gctgcccctg cttcacacct ctgcttggag aggacaagtg cagcctgtca gttttagaag
      961 caagtaaatc atcctctttt caagagcagt gtccgtggtg tgcagttcct ctccaattgc
     1021 tgcgtggtcg tggcccgacc tctcacggca tgacagcctt cgtcacccag cctgtgaggg
     1081 tcctgactgg agcaccttct aaatctaaga ttctgctgag gagcccccgc tggtccctct
     1141 gggcatgctg tgctcggacg gaaagcgggg cctgcgggtc cttgtgtccc tgccgctgaa
     1201 gaatggggct gctctgaggg aaacgctgtc tgctgccttc atacagatgc tgattaaagt
     1261 gatagcgatt cagatta
//
