LOCUS       NM_022072               6431 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens NOP2/Sun RNA methyltransferase 3 (NSUN3), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_022072
VERSION     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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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  (bases 1 to 6431)
  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.
            
            On Nov 22, 2018 this sequence version replaced NM_022072.4.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1385              BC020602.1         51-1435
            1386-5976           AC019233.7         22579-27169
            5977-6431           BQ030336.1         16-470              c
FEATURES             Location/Qualifiers
     source          1..6431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q11.2"
     gene            1..6431
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /note="NOP2/Sun RNA methyltransferase 3"
                     /db_xref="GeneID:63899"
                     /db_xref="HGNC:HGNC:26208"
                     /db_xref="MIM:617491"
     exon            1..78
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1089
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /EC_number="2.1.1.-"
                     /note="putative methyltransferase NSUN3; NOL1/NOP2/Sun
                     domain family member 3; NOP2/Sun RNA methyltransferase
                     family member 3"
                     /codon_start=1
                     /product="tRNA (cytosine(34)-C(5))-methyltransferase,
                     mitochondrial"
                     /protein_id="NP_071355.1"
                     /db_xref="CCDS:CCDS2927.1"
                     /db_xref="GeneID:63899"
                     /db_xref="HGNC:HGNC:26208"
                     /db_xref="MIM:617491"
                     /translation="MLTQLKAKSEGKLAKQICKVVLDHFEKQYSKELGDAWNTVREIL
                     TSPSCWQYAVLLNRFNYPFELEKDLHLKGYHTLSQGSLPNYPKSVKCYLSRTPGRIPS
                     ERHQIGNLKKYYLLNAASLLPVLALELRDGEKVLDLCAAPGGKSIALLQCACPGYLHC
                     NEYDSLRLRWLRQTLESFIPQPLINVIKVSELDGRKMGDAQPEMFDKVLVDAPCSNDR
                     SWLFSSDSQKASCRISQRRNLPLLQIELLRSAIKALRPGGILVYSTCTLSKAENQDVI
                     SEILNSHGNIMPMDIKGIARTCSHDFTFAPTGQECGLLVIPDKGKAWGPMYVAKLKKS
                     WSTGKW"
     exon            79..188
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /inference="alignment:Splign:2.1.0"
     exon            189..532
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /inference="alignment:Splign:2.1.0"
     exon            533..687
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /inference="alignment:Splign:2.1.0"
     exon            688..809
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /inference="alignment:Splign:2.1.0"
     exon            810..6431
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1386
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /note="major polyA site"
     regulatory      6411..6416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /note="hexamer: AATAAA"
     polyA_site      6431
                     /gene="NSUN3"
                     /gene_synonym="COXPD48; MST077; MSTP077"
                     /note="major polyA site"
ORIGIN      
        1 agttccctgg aggctttttg atactgattc gcgtacacct gttgtttgaa agctctcagc
       61 gggacaatgc tgacccagct gaaagcaaaa tcagagggga agcttgcaaa acagatttgc
      121 aaagttgtgt tggatcattt tgaaaaacag tattccaaag aactcggaga tgcctggaat
      181 acagtaaggg agatactaac atctccatca tgctggcaat atgctgtcct gcttaaccga
      241 ttcaattatc cttttgaact ggaaaaggat ttacatttga agggctatca cacactctct
      301 cagggatctt tacccaacta tcctaaatca gtgaagtgtt accttagcag aactccgggc
      361 cgaatccctt cagaaagaca ccaaattgga aacctgaaaa aatattatct cctaaatgct
      421 gcttctcttc tcccagtgtt ggctctggaa ttaagggatg gggagaaggt tctggatctc
      481 tgtgctgctc ctggagggaa atcaatagct ctgctgcagt gtgcttgtcc aggttatctt
      541 cattgtaatg aatatgatag tctgagattg aggtggctaa ggcagacgtt ggaatctttc
      601 atcccacagc ctttgataaa tgtaattaaa gtgtctgaat tggatggcag aaaaatggga
      661 gatgcccagc ctgaaatgtt tgacaaggtg ttagtggatg ctccgtgttc aaatgatcga
      721 agctggttgt tttcttctga ctctcagaag gcatcctgta ggataagtca aaggaggaat
      781 ttgcctcttc tacagataga gctgttaagg tctgcaatta aggccttacg tcctggaggg
      841 atacttgtat actctacatg cacgctttcc aaggcagaaa atcaagatgt gatcagtgaa
      901 attttaaact cccacggtaa catcatgcct atggacatta aaggaatagc aaggacttgc
      961 tcccacgact tcacatttgc tcccactggc caggaatgtg ggctcttagt gattccagat
     1021 aagggcaaag cctggggccc aatgtatgta gccaaattga agaaatcatg gagcacagga
     1081 aaatggtgac atgaatttgt aaactgtgtt tatgtgttat tatatttata tttctgaact
     1141 cagtacatgt taatatttaa ataattatgc agtaactttc tctgggtctg tttggaatcc
     1201 tatttagtta atactttagc atcttagaat ctaggcttga gaattgttca ggtgtatttt
     1261 tttcctagaa atatatctgt aacaatgatt taaggtggtg cagatggtgt ttgttctata
     1321 ttataaatct gctgtctttg cttggcattt tatagttaaa ttaattagaa tatgtggttt
     1381 tatgcataac gtgtttagtt ctgtattctt tctatgatag tgctttgaac cttcaaaaat
     1441 tcacattttc cagcgctccg accattttcc cgcttatcaa atgtacaaat ttgttcaagg
     1501 tttttttttc cccccaactt ttgtaactga ttgtctcaga actgattggt attctgagac
     1561 taacttttta agcagcacta tttctagttc tggcaaaata gtttttttat ttgcaatgtt
     1621 gttttctgtt aaagactata ttatgtttac tgcaaaggtc agtgactcta ctgacaccag
     1681 ctttatttcc cccacttttt ttgcattcac aaatacaaat tgaaagggta aattatattg
     1741 aaaggccttt agaacagcag attcacatgc acatgtttga ctttcgacat tcagcttata
     1801 gaattatgga gtctatccag caggctataa agcaagtact tgagacaaaa ccggaatgat
     1861 taataactgc aatcactgaa ctatatttgg agagttttgt tacataattg cagtcataat
     1921 gagcactaca gaatctgatt atcttacatt cacaatctgg aggggctttt tatttcactt
     1981 tgttataaaa tgttctctga gaatatgatg ccacatatta atgcacaaga gggagatgcc
     2041 taatgagagt ggactgtgtg attaccagaa cccagtgcca tttactaagt ggctctccat
     2101 gtttacataa atcctgggaa tactgtatac atttcttctt atgtacttag ggttttagct
     2161 tcagtcagca tcacactttt tctccagaaa ttacttcact tagagtacaa acatattttt
     2221 ccaactatta agaaaaatta tgcagcacat ctcaaaaaat agcatctctt tggaaaatag
     2281 cctttaaaaa aaaacaactt tatctgatta tagaaataca aaattctgct aaagctgaat
     2341 acttttgaat tgttcattat gttctgtgcc tttaaactag agactatttg cttattaata
     2401 ttttttgttt tgcaagcata tgtaacccgg tttatatcat caggaagtct taggaagaat
     2461 ttttttttct gtaccttcag tctgttaatc atttgttttc ctttatgtcc aattgatatg
     2521 tttaaagtaa agctaaagtc caggcacggt ggcttatgcc tgtaatccca gcactttgtc
     2581 aggccgaggc agggggcatc tcctgaggtc agaagttcga gactagcctg cccaacatgg
     2641 taaaaccccg actctactaa aaatgcaaaa aaattagaca ggcatggtgg ctggcaccag
     2701 caatcccagc tacttaggag gctgaggcag gagaatcact tgaacccagg aggcagaggt
     2761 tgcagttagc caagatctcg ccattgcact ccagcctggg cgacaagagt gaaaccccgt
     2821 agcaaaaaaa taataataat agtaattaaa taaaaataaa gtaacgctag aactgttgga
     2881 ccaaatcaag tatatgggta aatacagaag aataatgatg gtggaaaaga tgttttcttt
     2941 tttaagttat cattattagt ttgttttttt tatcttcaga cactataggt tttaaaaata
     3001 ggtttctttt atgtaggtta atcacagagt aaatctgcac actgtacttt gttaaatgtc
     3061 ggtattttcc cagtataatg cgatgaagct taatctgaat acttggtatg ctattgaatt
     3121 tactttccta tgattactga aaaatggatg cacgtgtgtg tgtgtgtgtg tgtgtgtgtg
     3181 tgtatatata tatatatata taattttatt aaaagcaatt gccccaaaag cagaaattga
     3241 caagcgggac ctaattaaac tgaagagctt ctgcacagca aactaaacta tcaacagagt
     3301 agcagacaac ttacaggatg ggagaaatat ttgcaaatta tgcatctgcc aaaggtctaa
     3361 tatccagaat ctataaggaa cttaaatcag caagcaaaaa acaaataacc ctattaaaaa
     3421 ctgagcaaag gacatgaaca gacatttctc aaaagaagac attcacatgg ccaacaaaca
     3481 tatgaaaaag tgctcttcat cactaatcat cagagaaatg caaatcaaaa ccacactgag
     3541 ataatatttt acaccagtca gaatggctat tattaaaaag tcaataaaat aaaaaataac
     3601 agacgctgat gaggctgtgg agaaaaggaa ctgcttatga actgttggtg gaaatgtaaa
     3661 ttacttcagc ctctatggaa agcagtttgg agatttctca aagaacttta taacagaatt
     3721 gccatttgag ctagcaatcc cattagtggg tatataccca caggaaaata aattgtccta
     3781 caaaaaaaga cataaacgct tgtgtgttca tcacagtaat atttacaata gtaaagatac
     3841 ggaatcaacc taaccgccca tcagcagttg attgaataaa ggaaatgtgg tacatatacc
     3901 tcgtgtaata ttacacagtg ataaaaaaga atgaaataat gtcttttgca acaacatgga
     3961 tgcagctgga tgcttttatc ctaagcaaat tcaggaacag aaaactaaat acatattctc
     4021 acttacaaat gggagctaaa tatcgagtac acatggacat aaaggaacaa tagacactgg
     4081 tgactactag agtggggagg ggaggagggg gatgtaggct gaaaaactac ctattgggta
     4141 ctgcactcac tacctgggtg acgggatcgt ctgtacccca aacctcagca tcatccagta
     4201 tacccatgta acacacctgt tcatgtatcc cctgaatcta aaaagctgaa attatttttt
     4261 aatgagaaga taaaccataa ttataatgaa ataggtaata ttgagcattg aatattctat
     4321 aaattgttta tatatgttgt cttttttttt tttttttttt ttttttgaga cagagtcttg
     4381 ctctgtcgcc caggctggat ggcgtgcagt ggcatgatct cagctcactg caacctctgc
     4441 ctcccgggtt caagcagttt tctgcctcag cctcccaagt aactgagatc acaggcaccc
     4501 gccaccatgc ttggctaatt ttttttgtat ttttagtaaa gatggggttc caccatcttg
     4561 gccaggttga tcttgaactc ctgaccttgt catccacctg cctcagcctc ccaaagtgct
     4621 gggattacag gcgtgagcca ccacacccac tgtgtatgtt gtctttattg atgcttaaaa
     4681 caaactcagg aataagtatt ataaccccct tttgtgaatg agaaaaccaa agctcagttc
     4741 tgtttatagt ttgccaaggc tacactggta agtaaagggt tcagccaatg tatagacaga
     4801 ctgtatagat atatgaagtg ggggtggggg ccaaggagct attactgctg tttggaaata
     4861 cttgcctctt gtagatccag ctttaacatt tttatgacat cctagtaata gcagaccctg
     4921 cacaaagtgg atatcagagt taatactgtg aagagacaaa ataatgagaa tacttttacc
     4981 aaagataatg aaatcttgca taatgtctgc atttttccat tgattggagt gcatccttag
     5041 aaaactgaaa ataacaaaaa cccaggacat ttttggaaat tgtatgctct ctagcaactt
     5101 tgcgtgaatt tttatacaaa cacttatgag ttatataaaa tgttctaaaa ctagaaaaaa
     5161 catggtcttg taacatgtta ttttcttaga tcactggttt ctcagaacat gtctttctgc
     5221 atggcctcct catccccatc ccaggggaga acgtgaatgt tccaagggac ttcggcctct
     5281 ggggcttcca cactctgggt gtcaggggta cagctcacag gctttcagtt tggccacagc
     5341 tgaatgattg agaattacca gataaatcct ccaaatccat ttctccagaa acctcttcct
     5401 agccacacag tgggagcctt gtttgacctt ttttaacctt tcctggtcag gtgccaggcc
     5461 agtcctgcaa agccagcaaa gtttcatttt cattcaaccc tttttttttc actttgaatc
     5521 aaatggaatt tagttcctcc cactgtcccc aacccagcta gagtgcagtg gtgtcatcat
     5581 ggctcactgc agcctcgact tcctgggttc aagttatctt ttcgcctcag cctcctaagt
     5641 agcctggact acaggcccac aataccatgc ctggctaatt tttaaattat tattattatt
     5701 attattgtag agatgtgacc tcaccaggct ggtttcaaac ccctggcctc aagtgatcct
     5761 cccacttcag cctcccaaag tattgggatt acaggtgtga gccattgtgc tcggcctcat
     5821 atattattag ttgtaaaaaa ggatgcatgt tttccctcac cttctctttg gctaattata
     5881 aatcatttta cttaatattt catagttaaa gggtagagcc gcgatcaaaa ctggctccga
     5941 ggtccaggcc cttttcccaa cactatgctg tctcacagag tgtaggttgt ttgaaccctc
     6001 aagattatta actgacttta cccctatttt ccattgttca gtttcctcct tttgtgtcat
     6061 accctattcc caggggatga aaggattaat caatacttgg gaaaaaaaca acaacctttg
     6121 aactgtttca ggccatattg taaagaagtg tgtcttgtga ttttgatacc cagaaatctc
     6181 cagtggaggg tattctctgc cttccttttc tttgcagatg ctgagctgaa gaatggaaat
     6241 ttggagcaga cttgcagtgt caattgtaaa gcaaagagta attgatatta ctttctgtga
     6301 cactgagtta ctttcaaaat agctttataa aaatttaggt tgcttaccaa cacattaact
     6361 tctccctgcc gtccacacgc tgaacagcca ctactttcag aaatagactg aataaatgta
     6421 atgcatttaa a
//
