LOCUS       NP_071355                340 aa            linear   PRI 07-FEB-2025
DEFINITION  tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial [Homo
            sapiens].
ACCESSION   NP_071355
VERSION     NP_071355.1
DBSOURCE    REFSEQ: accession NM_022072.5
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  (residues 1 to 340)
  AUTHORS   Jin,S., Li,J., Shen,Y., Wu,Y., Zhang,Z. and Ma,H.
  TITLE     RNA 5-Methylcytosine Regulator NSUN3 promotes tumor progression
            through regulating immune infiltration in head and neck squamous
            cell carcinoma
  JOURNAL   Oral Dis 30 (2), 313-328 (2024)
   PUBMED   35997137
  REMARK    GeneRIF: RNA 5-Methylcytosine Regulator NSUN3 promotes tumor
            progression through regulating immune infiltration in head and neck
            squamous cell carcinoma.
REFERENCE   2  (residues 1 to 340)
  AUTHORS   Murakami,Y., Wei,F.Y., Kawamura,Y., Horiguchi,H., Kadomatsu,T.,
            Miyata,K., Miura,K., Oike,Y., Ando,Y., Ueda,M., Tomizawa,K. and
            Chujo,T.
  TITLE     NSUN3-mediated mitochondrial tRNA 5-formylcytidine modification is
            essential for embryonic development and respiratory complexes in
            mice
  JOURNAL   Commun Biol 6 (1), 307 (2023)
   PUBMED   36949224
  REMARK    GeneRIF: NSUN3-mediated mitochondrial tRNA 5-formylcytidine
            modification is essential for embryonic development and respiratory
            complexes in mice.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 340)
  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   4  (residues 1 to 340)
  AUTHORS   Paramasivam,A., Meena,A.K., Venkatapathi,C., Pitceathly,R.D.S. and
            Thangaraj,K.
  TITLE     Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial
            Encephalomyopathy and Seizures
  JOURNAL   J Mol Neurosci 70 (12), 1962-1965 (2020)
   PUBMED   32488845
  REMARK    GeneRIF: Novel Biallelic NSUN3 Variants Cause Early-Onset
            Mitochondrial Encephalomyopathy and Seizures.
            Erratum:[J Mol Neurosci. 2020 Dec;70(12):1966. doi:
            10.1007/s12031-020-01652-2.. PMID: 32671698]
REFERENCE   5  (residues 1 to 340)
  AUTHORS   Haag,S., Sloan,K.E., Ranjan,N., Warda,A.S., Kretschmer,J.,
            Blessing,C., Hubner,B., Seikowski,J., Dennerlein,S., Rehling,P.,
            Rodnina,M.V., Hobartner,C. and Bohnsack,M.T.
  TITLE     NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand
            codon recognition in mitochondrial translation
  JOURNAL   EMBO J 35 (19), 2104-2119 (2016)
   PUBMED   27497299
  REMARK    GeneRIF: The authors show that the RNA methyltransferase NSUN3
            localises to mitochondria and interacts with mt-tRNA(M)(et) to
            methylate cytosine 34 (C34) at the wobble position.
REFERENCE   6  (residues 1 to 340)
  AUTHORS   Nakano,S., Suzuki,T., Kawarada,L., Iwata,H., Asano,K. and Suzuki,T.
  TITLE     NSUN3 methylase initiates 5-formylcytidine biogenesis in human
            mitochondrial tRNA(Met)
  JOURNAL   Nat Chem Biol 12 (7), 546-551 (2016)
   PUBMED   27214402
  REMARK    GeneRIF: The NSUN3-knockout cells showed strong reduction in
            mitochondrial protein synthesis and reduced oxygen consumption,
            leading to deficient mitochondrial activity. It reconstituted
            formation of 5-methylcytidine (m(5)C) at position 34 (m(5)C34) on
            mt-tRNA(Met) with recombinant NSUN3 in the presence of AdoMet,
            demonstrating that NSUN3-mediated m(5)C34 formation initiates
            f(5)C34 biogenesis.
REFERENCE   7  (residues 1 to 340)
  AUTHORS   Van Haute,L., Dietmann,S., Kremer,L., Hussain,S., Pearce,S.F.,
            Powell,C.A., Rorbach,J., Lantaff,R., Blanco,S., Sauer,S.,
            Kotzaeridou,U., Hoffmann,G.F., Memari,Y., Kolb-Kokocinski,A.,
            Durbin,R., Mayr,J.A., Frye,M., Prokisch,H. and Minczuk,M.
  TITLE     Deficient methylation and formylation of mt-tRNA(Met) wobble
            cytosine in a patient carrying mutations in NSUN3
  JOURNAL   Nat Commun 7, 12039 (2016)
   PUBMED   27356879
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 340)
  AUTHORS   He,J., Kelly,T.N., Zhao,Q., Li,H., Huang,J., Wang,L., Jaquish,C.E.,
            Sung,Y.J., Shimmin,L.C., Lu,F., Mu,J., Hu,D., Ji,X., Shen,C.,
            Guo,D., Ma,J., Wang,R., Shen,J., Li,S., Chen,J., Mei,H., Chen,C.S.,
            Chen,S., Chen,J., Li,J., Cao,J., Lu,X., Wu,X., Rice,T.K., Gu,C.C.,
            Schwander,K., Hamm,L.L., Liu,D., Rao,D.C., Hixson,J.E. and Gu,D.
  TITLE     Genome-wide association study identifies 8 novel loci associated
            with blood pressure responses to interventions in Han Chinese
  JOURNAL   Circ Cardiovasc Genet 6 (6), 598-607 (2013)
   PUBMED   24165912
REFERENCE   9  (residues 1 to 340)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC020602.1, AC019233.7 and BQ030336.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.205930.1,
                                           SRR1803615.125322.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314622.9/ ENSP00000318986.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..340
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     Protein         1..340
                     /product="tRNA (cytosine(34)-C(5))-methyltransferase,
                     mitochondrial"
                     /EC_number="2.1.1.-"
                     /note="putative methyltransferase NSUN3; NOL1/NOP2/Sun
                     domain family member 3; NOP2/Sun RNA methyltransferase
                     family member 3"
                     /calculated_mol_wt=38113
     Region          <118..333
                     /region_name="RsmB"
                     /note="16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF
                     family [Translation, ribosomal structure and biogenesis];
                     COG0144"
                     /db_xref="CDD:439914"
     CDS             1..340
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /coded_by="NM_022072.5:67..1089"
                     /db_xref="CCDS:CCDS2927.1"
                     /db_xref="GeneID:63899"
                     /db_xref="HGNC:HGNC:26208"
                     /db_xref="MIM:617491"
ORIGIN      
        1 mltqlkakse gklakqickv vldhfekqys kelgdawntv reiltspscw qyavllnrfn
       61 ypfelekdlh lkgyhtlsqg slpnypksvk cylsrtpgri pserhqignl kkyyllnaas
      121 llpvlalelr dgekvldlca apggksiall qcacpgylhc neydslrlrw lrqtlesfip
      181 qplinvikvs eldgrkmgda qpemfdkvlv dapcsndrsw lfssdsqkas crisqrrnlp
      241 llqiellrsa ikalrpggil vystctlska enqdviseil nshgnimpmd ikgiartcsh
      301 dftfaptgqe cgllvipdkg kawgpmyvak lkkswstgkw
//
