LOCUS       NM_016011               2515 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016011
VERSION     NM_016011.5
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 2515)
  AUTHORS   Fiorini,C., Degiorgi,A., Cascavilla,M.L., Tropeano,C.V., La
            Morgia,C., Battista,M., Ormanbekova,D., Palombo,F., Carbonelli,M.,
            Bandello,F., Carelli,V., Maresca,A., Barboni,P., Baruffini,E. and
            Caporali,L.
  TITLE     Recessive MECR pathogenic variants cause an LHON-like optic
            neuropathy
  JOURNAL   J Med Genet 61 (1), 93-101 (2023)
   PUBMED   37734847
  REMARK    GeneRIF: Recessive MECR pathogenic variants cause an LHON-like
            optic neuropathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2515)
  AUTHORS   Dutta,D., Kanca,O., Byeon,S.K., Marcogliese,P.C., Zuo,Z.,
            Shridharan,R.V., Park,J.H., Lin,G., Ge,M., Heimer,G., Kohler,J.N.,
            Wheeler,M.T., Kaipparettu,B.A., Pandey,A. and Bellen,H.J.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     A defect in mitochondrial fatty acid synthesis impairs iron
            metabolism and causes elevated ceramide levels
  JOURNAL   Nat Metab 5 (9), 1595-1614 (2023)
   PUBMED   37653044
REFERENCE   3  (bases 1 to 2515)
  AUTHORS   Baker,S.F., Meistermann,H., Tzouros,M., Baker,A., Golling,S.,
            Polster,J.S., Ledwith,M.P., Gitter,A., Augustin,A., Javanbakht,H.
            and Mehle,A.
  TITLE     Alternative splicing liberates a cryptic cytoplasmic isoform of
            mitochondrial MECR that antagonizes influenza virus
  JOURNAL   PLoS Biol 20 (12), e3001934 (2022)
   PUBMED   36542656
  REMARK    GeneRIF: Alternative splicing liberates a cryptic cytoplasmic
            isoform of mitochondrial MECR that antagonizes influenza virus.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2515)
  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   5  (bases 1 to 2515)
  AUTHORS   Liu,Z., Shimura,M., Zhang,L., Zhang,W., Wang,J., Ogawa-Tominaga,M.,
            Wang,J., Wang,X., Lv,J., Shi,W., Zhang,V.W., Murayama,K. and
            Fang,F.
  TITLE     Whole exome sequencing identifies a novel homozygous MECR mutation
            in a Chinese patient with childhood-onset dystonia and basal
            ganglia abnormalities, without optic atrophy
  JOURNAL   Mitochondrion 57, 222-229 (2021)
   PUBMED   33401012
  REMARK    GeneRIF: Whole exome sequencing identifies a novel homozygous MECR
            mutation in a Chinese patient with childhood-onset dystonia and
            basal ganglia abnormalities, without optic atrophy.
REFERENCE   6  (bases 1 to 2515)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2515)
  AUTHORS   Chen,Z.J., Pudas,R., Sharma,S., Smart,O.S., Juffer,A.H.,
            Hiltunen,J.K., Wierenga,R.K. and Haapalainen,A.M.
  TITLE     Structural enzymological studies of 2-enoyl thioester reductase of
            the human mitochondrial FAS II pathway: new insights into its
            substrate recognition properties
  JOURNAL   J Mol Biol 379 (4), 830-844 (2008)
   PUBMED   18479707
  REMARK    GeneRIF: The crystal structure of this dimeric enzyme (at 2.4 A
            resolution) suggests that the binding site for the recognition
            helix of the acyl carrier protein is in a groove between the two
            adjacent monomers.
REFERENCE   8  (bases 1 to 2515)
  AUTHORS   Miinalainen,I.J., Chen,Z.J., Torkko,J.M., Pirila,P.L.,
            Sormunen,R.T., Bergmann,U., Qin,Y.M. and Hiltunen,J.K.
  TITLE     Characterization of 2-enoyl thioester reductase from mammals. An
            ortholog of YBR026p/MRF1'p of the yeast mitochondrial fatty acid
            synthesis type II
  JOURNAL   J Biol Chem 278 (22), 20154-20161 (2003)
   PUBMED   12654921
REFERENCE   9  (bases 1 to 2515)
  AUTHORS   Masuda,N., Yasumo,H., Furusawa,T., Tsukamoto,T., Sadano,H. and
            Osumi,T.
  TITLE     Nuclear receptor binding factor-1 (NRBF-1), a protein interacting
            with a wide spectrum of nuclear hormone receptors
  JOURNAL   Gene 221 (2), 225-233 (1998)
   PUBMED   9795230
REFERENCE   10 (bases 1 to 2515)
  AUTHORS   Heimer,G., Gregory,A., Hogarth,P., Hayflick,S. and Ben Zeev,B.
  TITLE     MECR-Related Neurologic Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31070877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315274.1 and AL590729.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_016011.4.
            
            Summary: The protein encoded by this gene is an oxidoreductase that
            catalyzes the last step in mitochondrial fatty acid synthesis.
            Defects in this gene are a cause of childhood-onset dystonia and
            optic atrophy. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803616.270953.1,
                                           SRR1803612.25558.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000263702.11/
                                                  ENSP00000263702.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-313               AK315274.1         12-324
            314-314             AL590729.14        41533-41533         c
            315-624             AK315274.1         326-635
            625-625             AL590729.14        28595-28595         c
            626-1150            AK315274.1         637-1161
            1151-2515           AL590729.14        18065-19429         c
FEATURES             Location/Qualifiers
     source          1..2515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.3"
     gene            1..2515
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /note="mitochondrial trans-2-enoyl-CoA reductase"
                     /db_xref="GeneID:51102"
                     /db_xref="HGNC:HGNC:19691"
                     /db_xref="MIM:608205"
     exon            1..204
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1150
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /EC_number="1.3.1.104"
                     /note="isoform a is encoded by transcript variant 1;
                     homolog of yeast 2-enoyl thioester reductase;
                     mitochondrial 2-enoyl thioester reductase; nuclear
                     receptor binding factor 1; trans-2-enoyl-CoA reductase,
                     mitochondrial; enoyl-[acyl-carrier-protein] reductase,
                     mitochondrial"
                     /codon_start=1
                     /product="enoyl-[acyl-carrier-protein] reductase,
                     mitochondrial isoform a"
                     /protein_id="NP_057095.4"
                     /db_xref="CCDS:CCDS30659.1"
                     /db_xref="GeneID:51102"
                     /db_xref="HGNC:HGNC:19691"
                     /db_xref="MIM:608205"
                     /translation="MWVCSTLWRVRTPARQWRGLLPASGCHGPAASSYSASAEPARVR
                     ALVYGHHGDPAKVVELKNLELAAVRGSDVRVKMLAAPINPSDINMIQGNYGFLPELPA
                     VGGNEGVAQVVAVGSNVTGLKPGDWVIPANAGLGTWRTEAVFSEEALIQVPSDIPLQS
                     AATLGVNPCTAYRMLMDFEQLQPGDSVIQNASNSGVGQAVIQIAAALGLRTINVVRDR
                     PDIQKLSDRLKSLGAEHVITEEELRRPEMKNFFKDMPQPRLALNCVGGKSSTELLRQL
                     ARGGTMVTYGGMAKQPVVASVSLLIFKDLKLRGFWLSQWKKDHSPDQFKELILTLCDL
                     IRRGQLTAPACSQVPLQDYQSALEASMKPFISSKQILTM"
     exon            205..302
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            303..434
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            435..578
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            579..681
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            682..784
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            785..858
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            859..919
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            920..992
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     exon            993..2515
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1327..1332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /note="hexamer: AATAAA"
     polyA_site      1355
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /note="major polyA site"
     regulatory      2273..2278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /note="hexamer: ATTAAA"
     polyA_site      2292
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
     regulatory      2346..2351
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
                     /note="hexamer: AATAAA"
     polyA_site      2374
                     /gene="MECR"
                     /gene_synonym="CGI-63; DYTOABG; ETR1; FASN2B; NRBF1;
                     OPA16"
ORIGIN      
        1 gtcaggctct gtgttggttg gagcgagcat gtgggtctgc agtaccctgt ggcgggtgcg
       61 aacccccgcc cggcagtggc gggggctgct cccagcttct ggctgtcacg gacctgccgc
      121 ctcctcctac tccgcatccg ccgagcctgc ccgggtccgg gcgcttgtct atgggcacca
      181 cggggatcca gccaaggtcg tcgaactcaa gaacctggag ctagctgctg tgagaggatc
      241 agatgtccgt gtgaagatgc tggcggcccc tatcaatcca tctgacataa atatgatcca
      301 aggaaactac ggattccttc ctgaactgcc tgctgttgga gggaacgaag gtgttgcaca
      361 ggtggtagcg gtgggcagca atgtgaccgg gctgaagcca ggagactggg tgattccagc
      421 aaatgctggt ttaggaacct ggcggaccga ggctgtgttc agcgaggaag cactgatcca
      481 agttccgagt gacatccctc ttcagagcgc tgccaccctg ggtgtcaatc cctgcacagc
      541 ctacaggatg ttgatggact tcgagcaact gcagccaggg gattctgtca tccagaatgc
      601 atccaacagc ggagtggggc aagcagtcat ccagatcgcc gcagccctgg gcctaagaac
      661 catcaatgtg gtccgagaca gacctgatat ccagaagctg agtgacagac tgaagagtct
      721 gggggctgag catgtcatca cagaagagga gctaagaagg cccgaaatga aaaacttctt
      781 taaggacatg ccccagccac ggcttgctct caactgtgtt ggtgggaaaa gctccacaga
      841 gctgctgcgg cagttagcgc gtggaggaac catggtaacc tatgggggga tggccaagca
      901 gcccgtcgta gcctctgtga gcctgctcat ttttaaggat ctcaaacttc gaggcttttg
      961 gttgtcccag tggaagaagg atcacagtcc agaccagttc aaggagctga tcctcacact
     1021 gtgcgatctc atccgccgag gccagctcac agcccctgcc tgctcccagg tcccgctgca
     1081 ggactaccag tctgccttgg aagcctccat gaagcccttc atatcttcaa agcagattct
     1141 caccatgtga tcatcccaaa agagctggag tgacatggga ggggaggcgg atctgagggg
     1201 ctgggtgcag gcccctcagt tggggctccc accttcccca gactactgtt ctcctcactg
     1261 cctcttccta ttaggaggat ggtgaagcca gccacggttt tccccagggc cagccttaag
     1321 gtatctaata aagtctgaac tctcccttcc aaaaagtaga agtcatccct gtcgagaagg
     1381 accaacactg tgcactggtc agctcacagc accaagaggc ccccttcctg cttttctgtc
     1441 atgtgttccc ccagtaatca ttttctgacc accctgaaag caaagcctgg gtgggtactg
     1501 gcagtgcaaa ggccagtagg ccaccatccc tggccccaag ctgcacaagc ccacagacga
     1561 gggtcctgta gaacaaacgc tttgatgtgc ttctcaggta gcctgcggcc cagtccaggg
     1621 cttggggagg atcagctgca tggaagagtg aatgccaggc tgaggtcatc agggccctga
     1681 ggaacttgga cgtggggtct tcactctcat ggaactgccc ttctaactgg agacatagac
     1741 aatataccag tggttctcaa ccagaggcaa ttttaccccc aggagacatt tgacaatgtc
     1801 tggggatatt tctggctatc acagcttatg aaggaggttg ctactggcat ctagcaggca
     1861 gagtgagtgc tgctgttaaa cccaccacag gacacagaac agtctactgc aacaaagaat
     1921 tacccaaggc ctggcgcggt ggctcacacc tgtaatccca gcactttggg aagccaaggc
     1981 aagcggatca cttgagccca ggagttcaag gtcaacctag gtaacgtggt gaaacaccat
     2041 ctctacaaaa aatacaaaca ttagccaggt atggtgctgt gcacctgtag tcccagctac
     2101 tcgggaggtt gaggtgggag gatcacctga gcctgggagg tctagactgc agtgagccat
     2161 gatcatgcca ctgcattcca gcctaggcaa cagagcaaga ccctatatca aaaaaaaaaa
     2221 aaaaatctag ccccaaatgt tcaatgttca tgaggtcgtt gataaaccgt gcattaaaca
     2281 atctcacagt aattaccata gtgactaatg ctgtaaagaa gatatgtggg gtgctgtaag
     2341 agcagaataa agatcttgcc ctaggcccca gggacagggg tatgcttcct tgaggtgaag
     2401 tttgaaggtg ggctctcaca aatgagtgag ctttattcag gccgagagaa gagcttgacg
     2461 tgactttttg gtatttgctt cacgattcat ttgctcaaag caaagaacag aggct
//
