LOCUS       NM_014297                920 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens ETHE1 persulfide dioxygenase (ETHE1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_014297
VERSION     NM_014297.5
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 920)
  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 920)
  AUTHORS   Sathe,G., Deepha,S., Gayathri,N., Nagappa,M., Parayil Sankaran,B.,
            Taly,A.B., Khanna,T., Pandey,A. and Govindaraj,P.
  TITLE     Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the
            mitochondrial function in human skeletal muscle proteome
  JOURNAL   Mitochondrion 58, 64-71 (2021)
   PUBMED   33639274
  REMARK    GeneRIF: Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters
            the mitochondrial function in human skeletal muscle proteome.
REFERENCE   3  (bases 1 to 920)
  AUTHORS   Hao,Y., Huang,J., Ran,Y., Wang,S., Li,J., Zhao,Y., Ran,X., Lu,B.,
            Liu,J. and Li,R.
  TITLE     Ethylmalonic encephalopathy 1 initiates overactive autophagy in
            depleted uranium-induced cytotoxicity in the human embryonic kidney
            293 cells
  JOURNAL   J Biochem Mol Toxicol 35 (3), e22669 (2021)
   PUBMED   33274826
  REMARK    GeneRIF: Ethylmalonic encephalopathy 1 initiates overactive
            autophagy in depleted uranium-induced cytotoxicity in the human
            embryonic kidney 293 cells.
REFERENCE   4  (bases 1 to 920)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 920)
  AUTHORS   Grings,M., Seminotti,B., Karunanidhi,A., Ghaloul-Gonzalez,L.,
            Mohsen,A.W., Wipf,P., Palmfeldt,J., Vockley,J. and Leipnitz,G.
  TITLE     ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial
            bioenergetics, dynamics, redox homeostasis and endoplasmic
            reticulum-mitochondria crosstalk in patient fibroblasts
  JOURNAL   Sci Rep 9 (1), 12651 (2019)
   PUBMED   31477743
  REMARK    GeneRIF: ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial
            bioenergetics, dynamics, redox homeostasis and endoplasmic
            reticulum-mitochondria crosstalk in patient fibroblasts.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 920)
  AUTHORS   Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
            Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
            Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
            Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
            Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
            Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
            Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
            Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
            Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
            Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
            Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
            Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
            Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
            Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
            Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
            Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
            Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
            Myers,R.M., Rubin,E.M. and Lucas,S.M.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   7  (bases 1 to 920)
  AUTHORS   Tiranti,V., D'Adamo,P., Briem,E., Ferrari,G., Mineri,R.,
            Lamantea,E., Mandel,H., Balestri,P., Garcia-Silva,M.T., Vollmer,B.,
            Rinaldo,P., Hahn,S.H., Leonard,J., Rahman,S., Dionisi-Vici,C.,
            Garavaglia,B., Gasparini,P. and Zeviani,M.
  TITLE     Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene
            encoding a mitochondrial matrix protein
  JOURNAL   Am J Hum Genet 74 (2), 239-252 (2004)
   PUBMED   14732903
  REMARK    GeneRIF: role of the ETHE1 gene product in mitochondrial
            homeostasis and energy metabolism
REFERENCE   8  (bases 1 to 920)
  AUTHORS   Higashitsuji,H., Higashitsuji,H., Nagao,T., Nonoguchi,K., Fujii,S.,
            Itoh,K. and Fujita,J.
  TITLE     A novel protein overexpressed in hepatoma accelerates export of
            NF-kappa B from the nucleus and inhibits p53-dependent apoptosis
  JOURNAL   Cancer Cell 2 (4), 335-346 (2002)
   PUBMED   12398897
REFERENCE   9  (bases 1 to 920)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 920)
  AUTHORS   Di Meo,I., Lamperti,C. and Tiranti,V.
  TITLE     Ethylmalonic Encephalopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28933811
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP252912.1, D83198.2 and
            BC008250.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014297.4.
            
            Summary: This gene encodes a member of the metallo beta-lactamase
            family of iron-containing proteins involved in the mitochondrial
            sulfide oxidation pathway. The encoded protein catalyzes the
            oxidation of a persulfide substrate to sulfite. Certain mutations
            in this gene cause ethylmalonic encephalopathy, an infantile
            metabolic disorder affecting the brain, gastrointestinal tract and
            peripheral vessels. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: BC008250.1, SRR5189655.29156.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152798 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000292147.7/
                                                  ENSP00000292147.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 BP252912.1         56-60
            6-863               D83198.2           50-907
            864-920             BC008250.1         869-925
FEATURES             Location/Qualifiers
     source          1..920
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.31"
     gene            1..920
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /note="ETHE1 persulfide dioxygenase"
                     /db_xref="GeneID:23474"
                     /db_xref="HGNC:HGNC:23287"
                     /db_xref="MIM:608451"
     exon            1..105
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..789
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /EC_number="1.13.11.18"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein ETHE1, mitochondrial; hepatoma subtracted clone
                     one protein; sulfur dioxygenase ETHE1; persulfide
                     dioxygenase ETHE1, mitochondrial; ethylmalonic
                     encephalopathy 1"
                     /codon_start=1
                     /product="persulfide dioxygenase ETHE1, mitochondrial
                     isoform 1"
                     /protein_id="NP_055112.2"
                     /db_xref="CCDS:CCDS12622.1"
                     /db_xref="GeneID:23474"
                     /db_xref="HGNC:HGNC:23287"
                     /db_xref="MIM:608451"
                     /translation="MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRE
                     SREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVI
                     SRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRG
                     CGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLS
                     CEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA"
     exon            106..250
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /inference="alignment:Splign:2.1.0"
     exon            251..399
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /inference="alignment:Splign:2.1.0"
     exon            400..529
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /inference="alignment:Splign:2.1.0"
     exon            530..619
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /inference="alignment:Splign:2.1.0"
     exon            620..736
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /inference="alignment:Splign:2.1.0"
     exon            737..920
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      899..904
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /note="hexamer: AATAAA"
     polyA_site      920
                     /gene="ETHE1"
                     /gene_synonym="HSCO; YF13H12"
                     /note="major polyA site"
ORIGIN      
        1 attcctgacc ccgcagtggg cgcgatggcg gaggctgtac tgagggtcgc ccggcggcag
       61 ctgagccagc gcggcgggtc tggagccccc atcctcctgc ggcagatgtt cgagcctgtg
      121 agctgcacct tcacgtacct gctgggtgac agagagtccc gggaggccgt tctgatcgac
      181 ccagtcctgg aaacagcgcc tcgggatgcc cagctgatca aggagctggg gctgcggctg
      241 ctctatgctg tgaataccca ctgccacgcg gaccacatta caggctcggg gctgctccgt
      301 tccctcctcc ctggctgcca gtctgtcatc tcccgcctta gtggggccca ggctgactta
      361 cacattgagg atggagactc catccgcttc gggcgcttcg cgttggagac cagggccagc
      421 cctggccaca ccccaggctg tgtcaccttc gtcctgaatg accacagcat ggccttcact
      481 ggagatgccc tgttgatccg tgggtgtggg cggacagact tccagcaagg ctgtgccaag
      541 accttgtacc actcggtcca tgaaaagatc ttcacacttc caggagactg tctgatctac
      601 cctgctcacg attaccatgg gttcacagtg tccaccgtgg aggaggagag gactctgaac
      661 cctcggctca ccctcagctg tgaggagttt gtcaaaatca tgggcaacct gaacttgcct
      721 aaacctcagc agatagactt tgctgttcca gccaacatgc gctgtggggt gcagacaccc
      781 actgcctgat ctcacttctg tcagatgctc ccatccacta ttaatgcact aggtgggagg
      841 agagggcggc aatgacactg cacctctcct ttcccaccgc attccctgga gctccctaaa
      901 taaaactttt tttaacgtga
//
