LOCUS       NM_173659               1217 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens RNA pseudouridine synthase D3 (RPUSD3), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_173659
VERSION     NM_173659.5
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 1217)
  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 1217)
  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   3  (bases 1 to 1217)
  AUTHORS   Zaganelli,S., Rebelo-Guiomar,P., Maundrell,K., Rozanska,A.,
            Pierredon,S., Powell,C.A., Jourdain,A.A., Hulo,N.,
            Lightowlers,R.N., Chrzanowska-Lightowlers,Z.M., Minczuk,M. and
            Martinou,J.C.
  TITLE     The Pseudouridine Synthase RPUSD4 Is an Essential Component of
            Mitochondrial RNA Granules
  JOURNAL   J Biol Chem 292 (11), 4519-4532 (2017)
   PUBMED   28082677
REFERENCE   4  (bases 1 to 1217)
  AUTHORS   Antonicka,H., Choquet,K., Lin,Z.Y., Gingras,A.C., Kleinman,C.L. and
            Shoubridge,E.A.
  TITLE     A pseudouridine synthase module is essential for mitochondrial
            protein synthesis and cell viability
  JOURNAL   EMBO Rep 18 (1), 28-38 (2017)
   PUBMED   27974379
REFERENCE   5  (bases 1 to 1217)
  AUTHORS   Arroyo,J.D., Jourdain,A.A., Calvo,S.E., Ballarano,C.A.,
            Doench,J.G., Root,D.E. and Mootha,V.K.
  TITLE     A Genome-wide CRISPR Death Screen Identifies Genes Essential for
            Oxidative Phosphorylation
  JOURNAL   Cell Metab 24 (6), 875-885 (2016)
   PUBMED   27667664
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018809.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 27, 2021 this sequence version replaced NM_173659.4.
            
            Summary: This gene encodes a protein that functions in the assembly
            of the mitochondrial ribosome by adding a pseudouridine group to
            16S rRNA. Loss of this gene results in causes defects in
            mitochondrial protein production. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, May 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC032135.2, AK291888.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383820.10/ ENSP00000373331.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               AC018809.5         135081-135199
            120-256             AC018809.5         135488-135624
            257-301             AC018809.5         136846-136890
            302-401             AC018809.5         137007-137106
            402-509             AC018809.5         138284-138391
            510-594             AC018809.5         138473-138557
            595-718             AC018809.5         138782-138905
            719-858             AC018809.5         139918-140057
            859-1217            AC018809.5         140882-141240
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1217
                     /gene="RPUSD3"
                     /note="RNA pseudouridine synthase D3"
                     /db_xref="GeneID:285367"
                     /db_xref="HGNC:HGNC:28437"
                     /db_xref="MIM:617759"
     exon            1..119
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..1050
                     /gene="RPUSD3"
                     /note="isoform 1 is encoded by transcript variant 1; RNA
                     pseudouridylate synthase domain-containing protein 3;
                     mitochondrial mRNA pseudouridine synthase RPUSD3; RNA
                     pseudouridylate synthase domain containing 3"
                     /codon_start=1
                     /product="mitochondrial mRNA pseudouridine synthase RPUSD3
                     isoform 1"
                     /protein_id="NP_775930.3"
                     /db_xref="CCDS:CCDS2586.3"
                     /db_xref="GeneID:285367"
                     /db_xref="HGNC:HGNC:28437"
                     /db_xref="MIM:617759"
                     /translation="MDGRRVLGRFWSGWRRGLGVRPVPEDAGFGTEARHQRQPRGSCQ
                     RSGPLGDQPFAGLLPKNLSREELVDALRAAVVDRKGPLVTLNKPQGLPVTGKPGELTL
                     FSVLPELSQSLGLREQELQVVRASGKESSGLVLLSSCPQTASRLQKYFTHARRAQRPT
                     ATYCAVTDGIPAASEGKIQAALKLEHIDGVNLTVPVKAPSRKDILEGVKKTLSHFRVV
                     ATGSGCALVQLQPLTVFSSQLQVHMVLQLCPVLGDHMYSARVGTVLGQRFLLPAENNK
                     PQRQVLDEALLRRLHLTPSQAAQLPLHLHLHRLLLPGTRARDTPVELLAPLPPYFSRT
                     LQCLGLRLQ"
     exon            120..256
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            257..301
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            302..401
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            402..509
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            510..594
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            595..718
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            719..858
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1217
                     /gene="RPUSD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1199..1204
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPUSD3"
                     /note="hexamer: AATAAA"
     polyA_site      1217
                     /gene="RPUSD3"
                     /note="major polyA site"
ORIGIN      
        1 gctgtcctgg ctcgggagat ggacggccgc cgtgttttgg gccggttctg gagtggctgg
       61 cggcggggcc tgggtgtccg cccagtgccc gaggacgcag gctttggcac cgaagcccgg
      121 catcagaggc aaccccgcgg ctcctgccaa cggtcggggc ccctcgggga ccagcccttc
      181 gcggggctgc tgccaaaaaa cctcagtcgg gaggagctgg ttgatgcgct gcgggcagcc
      241 gtggtggacc ggaaaggacc tctagtgacg ttgaacaagc cacagggtct accagtgaca
      301 ggaaaaccag gagagctgac gttgttctca gtgctgccag agctgagcca gtccctaggg
      361 ctcagggagc aggagcttca ggttgtccga gcatctggga aagaaagctc tgggcttgta
      421 ctcctctcca gctgtcccca gacagctagt cgcctccaga agtacttcac ccatgcacgg
      481 agagcccaaa ggcccacagc cacctactgt gctgtcactg atgggatccc agctgcttct
      541 gaggggaaga tccaggctgc cctgaaactg gaacacattg atggggtcaa tctcacagtt
      601 ccagtgaagg ccccatcccg aaaggacatc ctggaaggtg tcaagaagac tctcagtcac
      661 tttcgtgtgg tagccacagg ctctggctgt gccctggtcc agctgcagcc actgacagtg
      721 ttctccagtc aactacaggt gcacatggta ctacagctct gccctgtgct tggggaccac
      781 atgtactctg cccgtgtggg cactgtcctg ggccagcgat ttctgctgcc agctgagaac
      841 aacaagcccc aaagacaggt cctggatgaa gccctcctca gacgcctcca cctgaccccc
      901 tcccaggctg cccagctgcc cttgcacctc cacctacatc ggctccttct cccaggcacc
      961 agggccaggg acacccctgt tgagctcctg gcaccactgc ccccttattt ctccaggacc
     1021 ctacagtgcc tggggctccg cttacaatag tcctccctct gttcctgacc ccctcacaca
     1081 cactggaaag tgagggtggg ggctctgcag tcagacaaac ctaagatcac atcctggaca
     1141 ggccacttgc ttgctgtgtg gcattgggca agtaacttta cctctctgga cttgtgataa
     1201 taaaagttcc tacctca
//
