LOCUS       NM_138395               3027 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_138395
VERSION     NM_138395.4
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 3027)
  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 3027)
  AUTHORS   Gu,J. and Chu,K.
  TITLE     Increased Mars2 expression upon microRNA-4661-5p-mediated KDM5D
            downregulation is correlated with malignant degree of gastric
            cancer cells
  JOURNAL   Cell Biol Int 45 (10), 2118-2128 (2021)
   PUBMED   34273914
  REMARK    GeneRIF: Increased Mars2 expression upon microRNA-4661-5p-mediated
            KDM5D downregulation is correlated with malignant degree of gastric
            cancer cells.
REFERENCE   3  (bases 1 to 3027)
  AUTHORS   Webb,B.D., Wheeler,P.G., Hagen,J.J., Cohen,N., Linderman,M.D.,
            Diaz,G.A., Naidich,T.P., Rodenburg,R.J., Houten,S.M. and
            Schadt,E.E.
  TITLE     Novel, compound heterozygous, single-nucleotide variants in MARS2
            associated with developmental delay, poor growth, and sensorineural
            hearing loss
  JOURNAL   Hum Mutat 36 (6), 587-592 (2015)
   PUBMED   25754315
  REMARK    GeneRIF: Novel, compound heterozygous, single-nucleotide variants
            in MARS2 associated with developmental delay, poor growth, and
            sensorineural hearing loss
REFERENCE   4  (bases 1 to 3027)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   5  (bases 1 to 3027)
  AUTHORS   Bayat,V., Thiffault,I., Jaiswal,M., Tetreault,M., Donti,T.,
            Sasarman,F., Bernard,G., Demers-Lamarche,J., Dicaire,M.J.,
            Mathieu,J., Vanasse,M., Bouchard,J.P., Rioux,M.F., Lourenco,C.M.,
            Li,Z., Haueter,C., Shoubridge,E.A., Graham,B.H., Brais,B. and
            Bellen,H.J.
  TITLE     Mutations in the mitochondrial methionyl-tRNA synthetase cause a
            neurodegenerative phenotype in flies and a recessive ataxia (ARSAL)
            in humans
  JOURNAL   PLoS Biol 10 (3), e1001288 (2012)
   PUBMED   22448145
  REMARK    GeneRIF: MARS2 is mutated in Autosomal Recessive Spastic Ataxia
            with Leukoencephalopathy patients.
REFERENCE   6  (bases 1 to 3027)
  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 3027)
  AUTHORS   Bonnefond,L., Fender,A., Rudinger-Thirion,J., Giege,R., Florentz,C.
            and Sissler,M.
  TITLE     Toward the full set of human mitochondrial aminoacyl-tRNA
            synthetases: characterization of AspRS and TyrRS
  JOURNAL   Biochemistry 44 (12), 4805-4816 (2005)
   PUBMED   15779907
REFERENCE   8  (bases 1 to 3027)
  AUTHORS   Spencer,A.C., Heck,A., Takeuchi,N., Watanabe,K. and Spremulli,L.L.
  TITLE     Characterization of the human mitochondrial methionyl-tRNA
            synthetase
  JOURNAL   Biochemistry 43 (30), 9743-9754 (2004)
   PUBMED   15274629
  REMARK    GeneRIF: Sequence analysis of mitochondrial MetRS indicates that
            this protein contains consensus motifs characteristic of class I
            aminoacyl-tRNA synthetase but lacks Zn2+ binding motif and
            C-terminal dimerization region found in MetRSs from various
            organisms.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC342319.1, BC009115.1,
            BC040934.2 and AC073058.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_138395.3.
            
            Summary: This gene produces a mitochondrial methionyl-tRNA
            synthetase protein that is encoded by the nuclear genome and
            imported to the mitochondrion. This protein likely functions as a
            monomer and is predicted to localize to the mitochondrial matrix.
            Mutations in this gene are associated with the autosomal recessive
            neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by
            RefSeq, Apr 2014].
            
            Sequence Note: This RefSeq contains an in-frame start site 20
            codons upstream from the currently annotated site but is not being
            annotated as a start site since it is in a weak Kozak sequence
            context.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AK098121.1, SRR1803613.126961.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000282276.8/
                                                  ENSP00000282276.6
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                DC342319.1         66-97
            33-3019             BC009115.1         1-2987
            3020-3022           BC040934.2         2066-2068
            3023-3027           AC073058.4         27511-27515
FEATURES             Location/Qualifiers
     source          1..3027
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..3027
                     /gene="MARS2"
                     /gene_synonym="COXPD25; MetRS; mtMetRS"
                     /note="methionyl-tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:92935"
                     /db_xref="HGNC:HGNC:25133"
                     /db_xref="MIM:609728"
     exon            1..3027
                     /gene="MARS2"
                     /gene_synonym="COXPD25; MetRS; mtMetRS"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1819
                     /gene="MARS2"
                     /gene_synonym="COXPD25; MetRS; mtMetRS"
                     /EC_number="6.1.1.10"
                     /note="methionine-tRNA synthetase 2, mitochondrial;
                     methionine tRNA ligase 2, mitochondrial; methionine--tRNA
                     ligase 2"
                     /codon_start=1
                     /product="methionine--tRNA ligase, mitochondrial
                     precursor"
                     /protein_id="NP_612404.1"
                     /db_xref="CCDS:CCDS33358.1"
                     /db_xref="GeneID:92935"
                     /db_xref="HGNC:HGNC:25133"
                     /db_xref="MIM:609728"
                     /translation="MLRTSVLRLLGRTGASRLSLLEDFGPRYYSSGSLSAGDDACDVR
                     AYFTTPIFYVNAAPHIGHLYSALLADALCRHRRLRGPSTAATRFSTGTDEHGLKIQQA
                     AATAGLAPTELCDRVSEQFQQLFQEAGISCTDFIRTTEARHRVAVQHFWGVLKSRGLL
                     YKGVYEGWYCASDECFLPEAKVTQQPGPSGDSFPVSLESGHPVSWTKEENYIFRLSQF
                     RKPLQRWLRGNPQAITPEPFHHVVLQWLDEELPDLSVSRRSSHLHWGIPVPGDDSQTI
                     YVWLDALVNYLTVIGYPNAEFKSWWPATSHIIGKDILKFHAIYWPAFLLGAGMSPPQR
                     ICVHSHWTVCGQKMSKSLGNVVDPRTCLNRYTVDGFRYFLLRQGVPNWDCDYYDEKVV
                     KLLNSELADALGGLLNRCTAKRINPSETYPAFCTTCFPSEPGLVGPSVRAQAEDYALV
                     SAVATLPKQVADHYDNFRIYKALEAVSSCVRQTNGFVQRHAPWKLNWESPVDAPWLGT
                     VLHVALECLRVFGTLLQPVTPSLADKLLSRLGVSASERSLGELYFLPRFYGHPCPFEG
                     RRLGPETGLLFPRLDQSRTWLVKAHRT"
     regulatory      2998..3003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARS2"
                     /gene_synonym="COXPD25; MetRS; mtMetRS"
                     /note="hexamer: ATTAAA"
     polyA_site      3027
                     /gene="MARS2"
                     /gene_synonym="COXPD25; MetRS; mtMetRS"
                     /note="major polyA site"
ORIGIN      
        1 agaacgccgc ctcctccgct tgcggccggt ctgcaccatg ctgcgaacgt ccgtcctccg
       61 cctgctagga cgcacggggg ctagtaggct gtctctcctg gaggacttcg gcccacgcta
      121 ctacagttcg ggctccctca gtgccggcga tgatgcttgt gatgtgcgcg cctacttcac
      181 tacacccatt ttctacgtga acgcggcgcc gcacatcggg cacctgtact cggcactact
      241 ggcggacgcc ctatgccgcc accgtcgcct ccgaggtccc agcacggccg ccacgcgatt
      301 ctccactggt accgacgagc acgggctgaa gattcagcag gcagcagcta ccgcgggcct
      361 ggccccgacc gagctgtgcg accgagtctc tgagcagttc cagcagcttt tccaggaggc
      421 cggtatctcc tgcacagatt tcatccgcac cacggaggcc cggcaccggg tggctgtgca
      481 gcacttctgg ggggtgctta agtcccgcgg tctgctctac aagggcgtct atgaaggttg
      541 gtattgcgct tccgacgagt gcttcctgcc tgaggccaag gtcacccagc agccgggccc
      601 atcgggggat tcgtttcctg tatctctcga gagcgggcat ccagtctcct ggaccaagga
      661 agaaaactac attttcaggc tttcccagtt ccggaagcca ctccagcggt ggctgcgggg
      721 caaccctcag gcgatcaccc ccgaaccatt tcatcacgta gttcttcagt ggctggacga
      781 ggagctgccc gacctgtccg tgtctcgcag aagtagccac ttgcactggg gcattccggt
      841 gcccggggat gattcgcaga ccatctatgt atggctggat gccctggtca actacctcac
      901 tgtaattggc tacccaaatg ctgagttcaa atcttggtgg ccggccacct ctcatatcat
      961 aggtaaggac attctcaaat tccatgccat ctattggcct gccttcctgt taggggccgg
     1021 catgagcccg ccacagcgca tctgtgtcca ttcccactgg acagtctgtg gccaaaagat
     1081 gtccaagagc ttgggcaacg tggtggatcc taggacttgc cttaaccgct ataccgtgga
     1141 tggcttccgc tactttctcc ttcggcaggg cgtccccaac tgggactgtg actactatga
     1201 tgaaaaggtg gttaagttgc tgaactccga gctggcagat gccttgggag gtctcttgaa
     1261 ccgatgcact gccaaaagaa taaatccttc tgagacctac ccagccttct gcactacctg
     1321 cttccctagt gagccagggt tggtggggcc gtcagttcgt gctcaggcag aggattatgc
     1381 tctggtgagc gcagtggcca ctttgccaaa gcaggtagca gaccactatg ataactttcg
     1441 gatatataag gctctggagg ccgtgtccag ctgtgtccgg caaactaatg gttttgtcca
     1501 aaggcatgca ccatggaagc tgaactggga gagcccagtg gatgctccct ggctgggtac
     1561 tgtgcttcat gtggccttgg aatgtttgcg agtctttggg actttgctgc agcctgtcac
     1621 cccaagccta gctgacaagc tgctgtctag gctgggggtc tctgcctcag agaggagtct
     1681 tggagagctc tatttcttgc ctcgattcta tggacatcca tgcccttttg aagggaggag
     1741 gctgggacct gaaactgggc ttttgtttcc aagactagac cagtccagga cttggctggt
     1801 gaaagcccac cggacctaga aactcagttc ttaccggctt gtggtaaaaa agcaaatgtg
     1861 ttatcttttt attttttatt ttcaggaaag ttatactagt attttcttaa gtgtggaatc
     1921 aaatgagcac ataagctgtg tccctgtgaa aagaggtttg tagcctttca ggtgcctgct
     1981 cctattcatt tctctgtgac cattgatcac tgtcctttgt gcattgtgtg tctaagatgt
     2041 cttcagggga aagatgggta agagacagtg ttgctaatgc tgttccttct ttgtgcctcc
     2101 ttccaaacca cagttatttg cccaaactac ctctcgtggc tggtttttca ttggcctggc
     2161 ctctgcttct caggctaatt agtgactcct ttctttgagg gtcagggttg gaggcccctt
     2221 actggtggtt ttacaggggg atcctacttt gttacacatg ttgggtttcc tgataaaaag
     2281 agagtatttt attaaaccct tgaaccagtg tcctagacca gatgattttt gcccatgtgt
     2341 atccccattt aaattcctac aactaagtct ccctgctttg ttaatagtcc aacagttggg
     2401 ttgtgtaaca tcacacttca accggtagat ggctctaatc tcacacattt acttactaaa
     2461 gattgaggat tcggaatatt tagaataaat tagttttctg ctttctaatt ttgcagatct
     2521 ttacattttt attgcttttc ttaaaataag ggatagcttt gcaaccacta ttgttttaat
     2581 ggaaagcaaa aaaccccccc aaacttatca gaatcctcgt tctttttcag actactgaaa
     2641 aatgacattt actctgttaa atgtttaata agtgaataag taaatgtatc aagttgttta
     2701 tataataaat tataaaactc ttgaggcact tggtatgtta aaaattttaa actttagtaa
     2761 cattaggtta caggtatgat ttaaaaattt gtaaatagtt caaaagggca atgttttctt
     2821 tatatttctt atagtcttaa ttttgttatc catgtgcata atttacctca tgatttcttt
     2881 tggtcaatca ggatctttaa tacaatatag aaattgtgta atagttatta taaatgttaa
     2941 tacacaactt tcaggtaatt ttaactgatt atttcttttg ctcttttaac ttaagttatt
     3001 aaagtttaaa agttcgtaag tacctta
//
