LOCUS       NM_005702               1841 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens Era like 12S mitochondrial rRNA chaperone 1 (ERAL1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005702
VERSION     NM_005702.4
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 1841)
  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 1841)
  AUTHORS   Li,S., Kuang,M., Chen,L., Li,Y., Liu,S., Du,H., Cao,L. and You,F.
  TITLE     The mitochondrial protein ERAL1 suppresses RNA virus infection by
            facilitating RIG-I-like receptor signaling
  JOURNAL   Cell Rep 34 (3), 108631 (2021)
   PUBMED   33472079
  REMARK    GeneRIF: The mitochondrial protein ERAL1 suppresses RNA virus
            infection by facilitating RIG-I-like receptor signaling.
REFERENCE   3  (bases 1 to 1841)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1841)
  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 1841)
  AUTHORS   Chatzispyrou,I.A., Alders,M., Guerrero-Castillo,S., Zapata
            Perez,R., Haagmans,M.A., Mouchiroud,L., Koster,J., Ofman,R.,
            Baas,F., Waterham,H.R., Spelbrink,J.N., Auwerx,J., Mannens,M.M.,
            Houtkooper,R.H. and Plomp,A.S.
  TITLE     A homozygous missense mutation in ERAL1, encoding a mitochondrial
            rRNA chaperone, causes Perrault syndrome
  JOURNAL   Hum Mol Genet 26 (13), 2541-2550 (2017)
   PUBMED   28449065
  REMARK    GeneRIF: Three women from three different families presented with
            signs of PS, including deafness and ovarian dysgenesis. We employed
            exome sequencing and identified a homozygous missense mutation in
            the ERAL1 gene, c.707A > T. The mutation leads to a damaging
            p.Asn236Ile substitution that is likely to interfere with the GTP
            binding capacity of the ERAL1 protein.
REFERENCE   6  (bases 1 to 1841)
  AUTHORS   Dennerlein,S., Rozanska,A., Wydro,M., Chrzanowska-Lightowlers,Z.M.
            and Lightowlers,R.N.
  TITLE     Human ERAL1 is a mitochondrial RNA chaperone involved in the
            assembly of the 28S small mitochondrial ribosomal subunit
  JOURNAL   Biochem J 430 (3), 551-558 (2010)
   PUBMED   20604745
  REMARK    GeneRIF: Data show that loss of ERAL1 leads to rapid decay of
            nascent 12S mt-rRNA, consistent with a role as a mitochondrial RNA
            chaperone.
REFERENCE   7  (bases 1 to 1841)
  AUTHORS   Uchiumi,T., Ohgaki,K., Yagi,M., Aoki,Y., Sakai,A., Matsumoto,S. and
            Kang,D.
  TITLE     ERAL1 is associated with mitochondrial ribosome and elimination of
            ERAL1 leads to mitochondrial dysfunction and growth retardation
  JOURNAL   Nucleic Acids Res 38 (16), 5554-5568 (2010)
   PUBMED   20430825
REFERENCE   8  (bases 1 to 1841)
  AUTHORS   Akiyama,T., Gohda,J., Shibata,S., Nomura,Y., Azuma,S., Ohmori,Y.,
            Sugano,S., Arai,H., Yamamoto,T. and Inoue,J.
  TITLE     Mammalian homologue of E. coli Ras-like GTPase (ERA) is a possible
            apoptosis regulator with RNA binding activity
  JOURNAL   Genes Cells 6 (11), 987-1001 (2001)
   PUBMED   11733036
REFERENCE   9  (bases 1 to 1841)
  AUTHORS   Britton,R.A., Chen,S.M., Wallis,D., Koeuth,T., Powell,B.S.,
            Shaffer,L.G., Largaespada,D., Jenkins,N.A., Copeland,N.G.,
            Court,D.L. and Lupski,J.R.
  TITLE     Isolation and preliminary characterization of the human and mouse
            homologues of the bacterial cell cycle gene era
  JOURNAL   Genomics 67 (1), 78-82 (2000)
   PUBMED   10945472
REFERENCE   10 (bases 1 to 1841)
  AUTHORS   Newman,W.G., Friedman,T.B., Conway,G.S. and Demain,L.A.M.
  TITLE     Perrault Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25254289
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA559976.1, BC019094.2 and
            BM683046.1.
            
            On Nov 23, 2018 this sequence version replaced NM_005702.3.
            
            Summary: The protein encoded by this gene is a GTPase that
            localizes to the mitochondrion. The encoded protein binds to the 3'
            terminal stem loop of 12S mitochondrial rRNA and is required for
            proper assembly of the 28S small mitochondrial ribosomal subunit.
            Deletion of this gene has been shown to cause mitochondrial
            dysfunction, growth retardation, and apoptosis. Several transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2015].
            
            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 :: AK023342.1, SRR3476690.251267.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000254928.10/
                                                  ENSP00000254928.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DA559976.1         61-69
            10-1834             BC019094.2         1-1825
            1835-1841           BM683046.1         24-30               c
FEATURES             Location/Qualifiers
     source          1..1841
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..1841
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /note="Era like 12S mitochondrial rRNA chaperone 1"
                     /db_xref="GeneID:26284"
                     /db_xref="HGNC:HGNC:3424"
                     /db_xref="MIM:607435"
     exon            1..302
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1333
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GTPase, human homolog of E. coli essential cell cycle
                     protein Era; era (E. coli G-protein homolog)-like 1;
                     GTP-binding protein era homolog; GTPase Era,
                     mitochondrial; conserved ERA-like GTPase; ERA-like protein
                     1; Era G-protein-like 1"
                     /codon_start=1
                     /product="GTPase Era, mitochondrial isoform 1"
                     /protein_id="NP_005693.1"
                     /db_xref="CCDS:CCDS11244.1"
                     /db_xref="GeneID:26284"
                     /db_xref="HGNC:HGNC:3424"
                     /db_xref="MIM:607435"
                     /translation="MAAPSWRGARLVQSVLRVWQVGPHVARERVIPFSSLLGFQRRCV
                     SCVAGSAFSGPRLASASRSNGQGSALDHFLGFSQPDSSVTPCVPAVSMNRDEQDVLLV
                     HHPDMPENSRVLRVVLLGAPNAGKSTLSNQLLGRKVFPVSRKVHTTRCQALGVITEKE
                     TQVILLDTPGIISPGKQKRHHLELSLLEDPWKSMESADLVVVLVDVSDKWTRNQLSPQ
                     LLRCLTKYSQIPSVLVMNKVDCLKQKSVLLELTAALTEGVVNGKKLKMRQAFHSHPGT
                     HCPSPAVKDPNTQSVGNPQRIGWPHFKEIFMLSALSQEDVKTLKQYLLTQAQPGPWEY
                     HSAVLTSQTPEEICANIIREKLLEHLPQEVPYNVQQKTAVWEEGPGGELVIQQKLLVP
                     KESYVKLLIGPKGHVISQIAQEAGHDLMDIFLCDVDIRLSVKLLK"
     exon            303..430
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            431..508
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            509..555
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            556..617
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            618..730
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            731..979
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1129
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1210
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1841
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1815..1820
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /note="hexamer: AATAAA"
     polyA_site      1841
                     /gene="ERAL1"
                     /gene_synonym="CEGA; ERA; ERA-W; ERAL1A; ERAL1B; H-ERA;
                     HERA-A; HERA-B; PRLTS6"
                     /note="major polyA site"
ORIGIN      
        1 gcagtgcctt gcggctgtaa tggctgcccc cagctggcgc ggggctaggc ttgttcaatc
       61 ggtgttaaga gtctggcagg tgggccctca tgtcgcgagg gagcgggtga tccctttttc
      121 ctcactctta ggcttccaac ggaggtgcgt gtcctgcgtc gcggggtccg ctttctctgg
      181 tccccgcttg gcctcggctt ctcgcagtaa tggccagggc tctgccctgg accacttcct
      241 cggattctct cagcccgaca gttcggtgac tccttgcgtc cccgcggtgt ccatgaacag
      301 agatgagcag gatgtcctct tggtccatca ccctgatatg cctgagaatt cccgggtcct
      361 acgagtggtc ctcctgggag ccccgaatgc agggaagtca acactctcca accagctact
      421 gggccgaaag gtgttccctg tttccaggaa ggtgcatact actcgctgcc aagctctggg
      481 ggtcatcaca gagaaggaga cccaggtgat tctacttgac acacctggca ttatcagtcc
      541 tggtaaacag aagaggcatc acctggagct ctctttgttg gaagatccat ggaagagcat
      601 ggaatctgct gatcttgttg tggttcttgt ggatgtctca gacaagtgga cacggaacca
      661 gctcagcccc cagttgctca ggtgcttgac caagtactcc cagatcccta gtgtcctggt
      721 catgaacaag gtagattgtt tgaagcagaa gtcagttctc ctggagctca cggcagccct
      781 cactgaaggt gtggtcaatg gcaaaaagct caagatgagg caggccttcc actcacaccc
      841 tggcacccat tgccccagcc cagcagttaa ggacccaaac acacaatctg tgggaaatcc
      901 tcagaggatt ggctggcccc acttcaagga gatcttcatg ttgtcagccc taagccagga
      961 ggacgtgaaa acactaaagc aataccttct gacacaggcc cagccagggc cctgggagta
     1021 ccacagtgca gtcctcacta gccagacacc agaagagatc tgtgccaaca ttatccgaga
     1081 gaagctccta gaacacctgc cccaggaggt gccttacaat gtacagcaga agacagcagt
     1141 gtgggaggaa ggaccaggtg gggagctggt tatccaacag aagcttctgg tgcccaaaga
     1201 atcttatgtg aaactcctga ttggtccgaa gggccacgtg atctcccaga tagcacagga
     1261 ggcaggccat gacctcatgg acatcttcct ctgcgatgtt gacatccgcc tctctgtgaa
     1321 gctcctcaag tgaccaccct ctactgaccc tcccagggca ttccagctca agctgctggc
     1381 aggaactgac cagttctgtc cttggctggg gaccctccag gcactggtga gagacatgaa
     1441 cactgactgg ccactagctg gcctggccct gttgagtctg cacagtccct gcccagctgt
     1501 gtcttctgtt ggaagaagga acctgcctta gctcagtttc caggtggttc ctctgcctgg
     1561 caccacagct acaaaggtgt agctaagaag atggcccatt ggtgggagca atgtcaccct
     1621 gcctccagct agctatgggc ccagagtttc tccctgagtc gctgttgcta gcagggagat
     1681 ttctcttcct gccctcactt ctttcacctt gaacttggat aagaactcgt gtctcctgag
     1741 tgaggtagcg cctcccatct gctccccaat tcttgatctc tcccacccca tccctctccc
     1801 cagtcttgga tactaataaa atataagcat tctggttctc a
//
