LOCUS       NM_001364014             938 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus ethylmalonic encephalopathy 1 (Ethe1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001364014 XM_017312221
VERSION     NM_001364014.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 938)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 938)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 938)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   4  (bases 1 to 938)
  AUTHORS   Hildebrandt,T.M., Di Meo,I., Zeviani,M., Viscomi,C. and Braun,H.P.
  TITLE     Proteome adaptations in Ethe1-deficient mice indicate a role in
            lipid catabolism and cytoskeleton organization via
            post-translational protein modifications
  JOURNAL   Biosci Rep 33 (4), e00052 (2013)
   PUBMED   23800285
  REMARK    GeneRIF: Ethe1 deficiency disrupts post translational amino acid
            modification and mitochondrial metabolic systems.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 938)
  AUTHORS   Tiranti,V., Viscomi,C., Hildebrandt,T., Di Meo,I., Mineri,R.,
            Tiveron,C., Levitt,M.D., Prelle,A., Fagiolari,G., Rimoldi,M. and
            Zeviani,M.
  TITLE     Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide
            toxicity in ethylmalonic encephalopathy
  JOURNAL   Nat Med 15 (2), 200-205 (2009)
   PUBMED   19136963
  REMARK    Erratum:[Nat Med. 2009 Feb;15(2):220]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK002666.1 and AI467554.1.
            
            On Jun 5, 2018 this sequence version replaced XM_017312221.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC010592.1, AK002666.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-933               AK002666.1         2-934
            934-938             AI467554.1         2-6                 c
FEATURES             Location/Qualifiers
     source          1..938
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 11.66 cM"
     gene            1..938
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /note="ethylmalonic encephalopathy 1"
                     /db_xref="GeneID:66071"
                     /db_xref="MGI:MGI:1913321"
     exon            1..104
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..788
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /EC_number="1.13.11.18"
                     /note="protein ETHE1, mitochondrial; hepatoma subtracted
                     clone one protein; ethylmalonic encephalopathy protein 1
                     homolog; sulfur dioxygenase ETHE1; persulfide dioxygenase
                     ETHE1, mitochondrial"
                     /codon_start=1
                     /product="persulfide dioxygenase ETHE1, mitochondrial
                     precursor"
                     /protein_id="NP_001350943.1"
                     /db_xref="CCDS:CCDS20957.1"
                     /db_xref="GeneID:66071"
                     /db_xref="MGI:MGI:1913321"
                     /translation="MASAVVRVAGRRLSQQSASGAPVLLRQMFEPKSCTYTYLLGDRE
                     SREAVLIDPVLETAHRDAQLIKELGLKLLYAVNTHCHADHITGTGVLRSLLPGCQSVI
                     SRLSGAQADLHIGEGDSIRFGRFALETRASPGHTPGCVTFVLNDQSMAFTGDALLIRG
                     CGRTDFQQGCAKTLYHSVHEKIFTLPGNCLIYPAHDYHGLTVSTVEEERTLNPRLTLS
                     CEEFIKVMDNLNLPKPQQIDIAVPANMRCGVQTPPS"
     exon            105..249
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /inference="alignment:Splign:2.1.0"
     exon            250..398
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /inference="alignment:Splign:2.1.0"
     exon            399..528
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /inference="alignment:Splign:2.1.0"
     exon            529..618
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /inference="alignment:Splign:2.1.0"
     exon            619..735
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /inference="alignment:Splign:2.1.0"
     exon            736..938
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /inference="alignment:Splign:2.1.0"
     regulatory      910..915
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /note="hexamer: AATAAA"
     polyA_site      938
                     /gene="Ethe1"
                     /gene_synonym="0610025L15Rik; Hsco"
                     /note="major polyA site"
ORIGIN      
        1 agtgctgagc gggctctggc gcgatggcga gcgcggtcgt cagggtcgcc gggcggcggc
       61 tgagccagca aagcgcatcc ggagccccgg tcctcctgcg gcagatgttt gaacccaaga
      121 gctgcaccta tacctacctt ctgggtgacc gggagtcaag agaggcagtt ctgatcgacc
      181 ccgttctgga gacagcgcat cgggatgctc agttgattaa ggagctgggg ctcaagctgt
      241 tgtacgctgt gaacactcac tgccatgctg accacatcac cggcacgggg gttctccggt
      301 ccctgctccc gggctgccag tctgtcatct cccgcctcag cggagcccag gctgatttgc
      361 atatcgggga aggtgattcc atccgctttg gacgctttgc tttggagact cgagccagcc
      421 ctggccacac tccaggctgt gtcacctttg tcctgaacga ccagagcatg gccttcactg
      481 gagatgccct gctgatccga gggtgtggac ggacagactt ccaacaaggc tgtgctaaga
      541 ctttgtacca ctctgtgcac gagaagatct tcacacttcc aggcaactgt ctaatctacc
      601 cggctcacga ttaccacggg ctcacagttt ctactgtgga ggaggaacgg actctgaacc
      661 cacggcttac cctcagctgt gaggaattta tcaaggtcat ggacaacctg aacttgccca
      721 agccacagca gatagacatt gctgttcctg caaatatgcg ctgtggggtc cagactccac
      781 cctcctgatt cgtcccagcc agctgctcac atccgttatg aatgcactag gaggggtgag
      841 gggaggggtg tcaccccagg gcctctctct tctcctacct ctactctcac cagctacttg
      901 agcttcttaa ataaagttta cttcgttttt gccacgaa
//
