LOCUS       NM_017827               1924 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_017827
VERSION     NM_017827.4
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 1924)
  AUTHORS   He,J., Liu,X.X., Ma,M.M., Lin,J.J., Fu,J., Chen,Y.K., Xu,G.R.,
            Xu,L.Q., Fu,Z.F., Xu,D., Chen,W.F., Cao,C.Y., Shi,Y., Zeng,Y.H.,
            Zhang,J., Chen,X.C., Zhang,R.X., Wang,N., Kennerson,M., Fan,D.S.
            and Chen,W.J.
  TITLE     Heterozygous Seryl-tRNA Synthetase 1 Variants Cause
            Charcot-Marie-Tooth Disease
  JOURNAL   Ann Neurol 93 (2), 244-256 (2023)
   PUBMED   36088542
  REMARK    GeneRIF: Heterozygous Seryl-tRNA Synthetase 1 Variants Cause
            Charcot-Marie-Tooth Disease.
REFERENCE   2  (bases 1 to 1924)
  AUTHORS   Yu,T., Zhang,Y., Zheng,W.Q., Wu,S., Li,G., Zhang,Y., Li,N., Yao,R.,
            Fang,P., Wang,J. and Zhou,X.L.
  TITLE     Selective degradation of tRNASer(AGY) is the primary driver for
            mitochondrial seryl-tRNA synthetase-related disease
  JOURNAL   Nucleic Acids Res 50 (20), 11755-11774 (2022)
   PUBMED   36350636
  REMARK    GeneRIF: Selective degradation of tRNASer(AGY) is the primary
            driver for mitochondrial seryl-tRNA synthetase-related disease.
REFERENCE   3  (bases 1 to 1924)
  AUTHORS   Parodi,L., Barbier,M., Jacoupy,M., Pujol,C., Lejeune,F.X.,
            Lallemant-Dudek,P., Esteves,T., Pennings,M., Kamsteeg,E.J.,
            Guillaud-Bataille,M., Banneau,G., Coarelli,G., Oumoussa,B.M.,
            Fraidakis,M.J., Stevanin,G., Depienne,C., van de Warrenburg,B.,
            Brice,A. and Durr,A.
  TITLE     The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in
            spastic paraplegia type 4
  JOURNAL   Genet Med 24 (11), 2308-2317 (2022)
   PUBMED   36056923
  REMARK    GeneRIF: The mitochondrial seryl-tRNA synthetase SARS2 modifies
            onset in spastic paraplegia type 4.
REFERENCE   4  (bases 1 to 1924)
  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 1924)
  AUTHORS   Roux,C.J., Barcia,G., Schiff,M., Sissler,M., Levy,R.,
            Dangouloff-Ros,V., Desguerre,I., Edvardson,S., Elpeleg,O.,
            Rotig,A., Munnich,A. and Boddaert,N.
  TITLE     Phenotypic diversity of brain MRI patterns in mitochondrial
            aminoacyl-tRNA synthetase mutations
  JOURNAL   Mol Genet Metab 133 (2), 222-229 (2021)
   PUBMED   33972171
  REMARK    GeneRIF: Phenotypic diversity of brain MRI patterns in
            mitochondrial aminoacyl-tRNA synthetase mutations.
REFERENCE   6  (bases 1 to 1924)
  AUTHORS   Zanotto,E., Lehtonen,V. and Jacobs,H.T.
  TITLE     Modulation of Mrps12/Sarsm promoter activity in response to
            mitochondrial stress
  JOURNAL   Biochim Biophys Acta 1783 (12), 2352-2362 (2008)
   PUBMED   18755224
REFERENCE   7  (bases 1 to 1924)
  AUTHORS   Ihalamulla,R.L., Liyanage,C.P. and Karunaweera,N.D.
  TITLE     A simple device to maintain in vitro cultures of Leishmania in
            tropical countries
  JOURNAL   Trans R Soc Trop Med Hyg 98 (5), 315-317 (2004)
   PUBMED   15109557
REFERENCE   8  (bases 1 to 1924)
  AUTHORS   Casas,C., Ribera,J. and Esquerda,J.E.
  TITLE     Antibodies against c-Jun N-terminal peptide cross-react with
            neo-epitopes emerging after caspase-mediated proteolysis during
            apoptosis
  JOURNAL   J Neurochem 77 (3), 904-915 (2001)
   PUBMED   11331419
REFERENCE   9  (bases 1 to 1924)
  AUTHORS   Shah,Z.H., Toompuu,M., Hakkinen,T., Rovio,A.T., van Ravenswaay,C.,
            De Leenheer,E.M., Smith,R.J., Cremers,F.P., Cremers,C.W. and
            Jacobs,H.T.
  TITLE     Novel coding-region polymorphisms in mitochondrial seryl-tRNA
            synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in
            DFNA4 autosomal dominant deafness families
  JOURNAL   Hum Mutat 17 (5), 433-434 (2001)
   PUBMED   11317363
REFERENCE   10 (bases 1 to 1924)
  AUTHORS   Yokogawa,T., Shimada,N., Takeuchi,N., Benkowski,L., Suzuki,T.,
            Omori,A., Ueda,T., Nishikawa,K., Spremulli,L.L. and Watanabe,K.
  TITLE     Characterization and tRNA recognition of mammalian mitochondrial
            seryl-tRNA synthetase
  JOURNAL   J Biol Chem 275 (26), 19913-19920 (2000)
   PUBMED   10764807
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB029948.1 and BC042912.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_017827.3.
            
            Summary: This gene encodes the mitochondrial seryl-tRNA synthethase
            precursor, a member of the class II tRNA synthetase family. The
            mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and
            participates in the biosynthesis of selenocysteinyl-tRNA(sec) in
            mitochondria. The enzyme contains an N-terminal tRNA binding domain
            and a core catalytic domain. It functions in a homodimeric form,
            which is stabilized by tRNA binding. This gene is regulated by a
            bidirectional promoter that also controls the expression of
            mitochondrial ribosomal protein S12. Both genes are within the
            critical interval for the autosomal dominant deafness locus DFNA4
            and might be linked to this disease. Multiple transcript variants
            encoding different isoforms have been identified for this gene.
            [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (2) lacks an alternate exon and
            uses an alternate splice site in the coding region but maintains
            the reading frame, compared to variant 1. This variant encodes
            isoform b which is 2 aa shorter than isoform a.
            
            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 :: AK000457.1, AB029948.1 [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                 :: ENST00000221431.11/
                                                  ENSP00000221431.6
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AB029948.1         134-148
            16-1370             BC042912.1         3-1357
            1371-1924           AB029948.1         1504-2057
FEATURES             Location/Qualifiers
     source          1..1924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1924
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /note="seryl-tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:54938"
                     /db_xref="HGNC:HGNC:17697"
                     /db_xref="MIM:612804"
     exon            1..294
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..1584
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /EC_number="6.1.1.11"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; serine tRNA ligase 2, mitochondrial; seryl-tRNA
                     synthetase, mitochondrial; mitochondrial seryl-tRNA
                     synthetase; seryl-tRNA(Ser/Sec) synthetase; serine--tRNA
                     ligase, mitochondrial"
                     /codon_start=1
                     /product="serine--tRNA ligase, mitochondrial isoform b
                     precursor"
                     /protein_id="NP_060297.1"
                     /db_xref="CCDS:CCDS33017.1"
                     /db_xref="GeneID:54938"
                     /db_xref="HGNC:HGNC:17697"
                     /db_xref="MIM:612804"
                     /translation="MAASMARRLWPLLTRRGFRPRGGCISNDSPRRSFTTEKRNRNLL
                     YEYAREGYSALPQLDIERFCACPEEAAHALELRKGELRSADLPAIISTWQELRQLQEQ
                     IRSLEEEKAAVTEAVRALLANQDSGEVQQDPKYQGLRARGREIRKELVHLYPREAQLE
                     EQFYLQALKLPNQTHPDVPVGDESQARVLHMVGDKPVFSFQPRGHLEIGEKLDIIRQK
                     RLSHVSGHRSYYLRGAGALLQHGLVNFTFNKLLRRGFTPMTVPDLLRGAVFEGCGMTP
                     NANPSQIYNIDPARFKDLNLAGTAEVGLAGYFMDHTVAFRDLPVRMVCSSTCYRAETN
                     TGQEPRGLYRVHHFTKVEMFGVTGPGLEQSSQLLEEFLSLQMEILTELGLHFRVLDMP
                     TQELGLPAYRKFDIEAWMPGRGRFGEVTSASNCTDFQSRRLHIMFQTEAGELQFAHTV
                     NATACAVPRLLIALLESNQQKDGSVLVPPALQSYLGTDRITAPTHVPLQYIGPNQPRK
                     PGLPGQPAVS"
     exon            295..390
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            391..420
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            421..561
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            562..616
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            617..680
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            681..786
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            787..834
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            835..943
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            944..989
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1077
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1187
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1281
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1374
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..1440
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1924
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1906..1911
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /note="hexamer: AATAAA"
     polyA_site      1924
                     /gene="SARS2"
                     /gene_synonym="mtSerRS; SARS; SARSM; SerRS; SerRSmt; SERS;
                     SYS"
                     /note="major polyA site"
ORIGIN      
        1 gaagtgccgc cttgttcccg gtccaagatg gctgcgtcca tggcgcggcg cttgtggcct
       61 ttgctgactc gtcgggggtt ccggccccgg ggaggctgca tctccaacga tagtccaagg
      121 agaagtttca ctacagagaa acgaaaccgg aacctcctgt acgagtatgc gcgcgagggc
      181 tacagcgcac tccctcagct ggacatagag cggttctgcg catgcccaga agaggccgca
      241 cacgccctgg agctccgcaa gggggagctg cgctcggcgg acctgcccgc gatcatctcg
      301 acatggcagg agctgaggca gctgcaggag cagatccgga gcctggagga agagaaggca
      361 gctgtgactg aggcagtgcg ggccctgctg gcaaaccagg acagtggtga agtgcagcag
      421 gaccccaagt accagggtct gcgggcacgt ggccgggaga tccggaagga gcttgttcac
      481 ctgtacccca gggaggccca gcttgaggag cagttctacc tgcaggcgct gaagctgccc
      541 aaccagaccc acccagacgt gcccgtcggg gatgagagcc aggctcgagt gctccacatg
      601 gtcggagaca agccagtttt ctccttccaa cctcggggcc acctggaaat tggcgagaaa
      661 ctcgacatca tccgtcagaa gcgcctgtcc cacgtgtctg gccaccggtc ctattacctg
      721 cgcggggctg gagccctcct gcagcacggc ctggtcaact tcacattcaa caagcttctc
      781 cgccggggct tcacccccat gacggtgcca gaccttctcc gcggagcagt gtttgaaggc
      841 tgtgggatga caccaaatgc caacccatcc caaatttaca acatcgaccc tgcccgcttc
      901 aaagatctca acctggctgg aacagcggag gtggggcttg caggctactt catggaccac
      961 accgtggcct tcagggacct gccagtcagg atggtttgct ccagcacctg ctaccgggca
     1021 gagacaaaca cgggacagga accccggggg ctgtatcgag tacaccactt caccaaggtg
     1081 gagatgtttg gggtgacagg ccctgggctg gagcagagct cacagctgct ggaggagttc
     1141 ctgtcccttc agatggagat cttgacagag ctgggcttgc acttccgggt cctggatatg
     1201 cccacccaag aactgggcct ccccgcctac cgcaagtttg acattgaggc ctggatgcca
     1261 ggccgaggcc gctttggaga ggtcaccagt gcttccaact gcacagactt ccagagccgc
     1321 cgcctccaca tcatgttcca gaccgaggct ggggagctgc agtttgccca cacggtgaac
     1381 gccaccgcct gtgctgtccc ccgccttctc atcgcgctcc tggagagtaa ccagcagaag
     1441 gacggctcag tgctcgtgcc ccctgccctc cagtcctacc tcggcactga tcggatcaca
     1501 gcccctaccc acgtgcctct ccagtacatc ggccccaacc agccccggaa gcctgggctg
     1561 cctggccagc ctgctgtaag ctaagaaccc acccacagca gccctcgggg gtgtcactgc
     1621 ttcctggagt tcaggagacc ccggacacct gggacctgtg ttgctgagcc cgtcctgaca
     1681 tctgtgttct tcctgtcagc tccacgcccg ggcccctgga ccacggggtc cacctctcct
     1741 ctgtccttgc tgcctcagag tcagtcactg accctgttat cattgagggt cccagtggga
     1801 agcaggacgt ctgggcttta cggttctagg gacaggagaa gcagaggaag aggcttccat
     1861 ccctccttcc ttctttcctc ctacagtgct gagcaaaaag tccccaataa atggtcagga
     1921 caaa
//
