LOCUS       NM_032795               2468 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens RNA pseudouridine synthase D4 (RPUSD4), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_032795
VERSION     NM_032795.3
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 2468)
  AUTHORS   Martinez,N.M., Su,A., Burns,M.C., Nussbacher,J.K., Schaening,C.,
            Sathe,S., Yeo,G.W. and Gilbert,W.V.
  TITLE     Pseudouridine synthases modify human pre-mRNA co-transcriptionally
            and affect pre-mRNA processing
  JOURNAL   Mol Cell 82 (3), 645-659 (2022)
   PUBMED   35051350
  REMARK    GeneRIF: Pseudouridine synthases modify human pre-mRNA
            co-transcriptionally and affect pre-mRNA processing.
REFERENCE   2  (bases 1 to 2468)
  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   3  (bases 1 to 2468)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2468)
  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
  REMARK    GeneRIF: RPUSD4 binds 16S mt-rRNA, mt-tRNA(Met), and mt-tRNA(Phe),
            and is responsible for pseudouridylation of the latter.
REFERENCE   5  (bases 1 to 2468)
  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   6  (bases 1 to 2468)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   7  (bases 1 to 2468)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   8  (bases 1 to 2468)
  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   9  (bases 1 to 2468)
  AUTHORS   Smith,N.L., Felix,J.F., Morrison,A.C., Demissie,S., Glazer,N.L.,
            Loehr,L.R., Cupples,L.A., Dehghan,A., Lumley,T., Rosamond,W.D.,
            Lieb,W., Rivadeneira,F., Bis,J.C., Folsom,A.R., Benjamin,E.,
            Aulchenko,Y.S., Haritunians,T., Couper,D., Murabito,J., Wang,Y.A.,
            Stricker,B.H., Gottdiener,J.S., Chang,P.P., Wang,T.J., Rice,K.M.,
            Hofman,A., Heckbert,S.R., Fox,E.R., O'Donnell,C.J.,
            Uitterlinden,A.G., Rotter,J.I., Willerson,J.T., Levy,D., van
            Duijn,C.M., Psaty,B.M., Witteman,J.C., Boerwinkle,E. and Vasan,R.S.
  TITLE     Association of genome-wide variation with the risk of incident
            heart failure in adults of European and African ancestry: a
            prospective meta-analysis from the cohorts for heart and aging
            research in genomic epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 3 (3), 256-266 (2010)
   PUBMED   20445134
REFERENCE   10 (bases 1 to 2468)
  AUTHORS   Miele,A., Medina,R., van Wijnen,A.J., Stein,G.S. and Stein,J.L.
  TITLE     The interactome of the histone gene regulatory factor HiNF-P
            suggests novel cell cycle related roles in transcriptional control
            and RNA processing
  JOURNAL   J Cell Biochem 102 (1), 136-148 (2007)
   PUBMED   17577209
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC014131.2, DB542764.1 and BU679173.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032795.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR1803617.208019.1,
                                           SRR1660805.107055.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298317.9/ ENSP00000298317.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1770              BC014131.2         4-1773
            1771-2150           DB542764.1         69-448
            2151-2468           BU679173.1         18-335              c
FEATURES             Location/Qualifiers
     source          1..2468
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..2468
                     /gene="RPUSD4"
                     /note="RNA pseudouridine synthase D4"
                     /db_xref="GeneID:84881"
                     /db_xref="HGNC:HGNC:25898"
                     /db_xref="MIM:617488"
     exon            1..201
                     /gene="RPUSD4"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1146
                     /gene="RPUSD4"
                     /EC_number="5.4.99.12"
                     /note="isoform a is encoded by transcript variant 1; RNA
                     pseudouridylate synthase domain-containing protein 4;
                     mitochondrial RNA pseudouridine synthase RPUSD4; RNA
                     pseudouridylate synthase domain containing 4;
                     pseudouridylate synthase RPUSD4, mitochondrial"
                     /codon_start=1
                     /product="pseudouridylate synthase RPUSD4, mitochondrial
                     isoform a"
                     /protein_id="NP_116184.2"
                     /db_xref="CCDS:CCDS8469.1"
                     /db_xref="GeneID:84881"
                     /db_xref="HGNC:HGNC:25898"
                     /db_xref="MIM:617488"
                     /translation="MAAPRWSASGPWIRGNGQGCGSLFTLVSKPFCAAAAASTAINAQ
                     RLAEKLRAQKREQDTKKEPVSTNAVQRRVQEIVRFTRQLQRVHPNVLAKALTRGILHQ
                     DKNLVVINKPYGLPVHGGPGVQLCITDVLPILAKMLHGHKAEPLHLCHRLDKETTGVM
                     VLAWDKDMAHQVQELFRTRQVVKKYWAITVHVPMPSAGVVDIPIVEKEAQGQQQHHKM
                     TLSPSYRMDDGKMVKVRRSRNAQVAVTQYQVLSSTLSSALVELQPITGIKHQLRVHLS
                     FGLDCPILGDHKYSDWNRLAPQKLSVGTLKKLGLEQSKARYIPLHLHARQLILPALGS
                     GKEELNLVCKLPRFFVHSLHRLRLEMPNEDQNENNEAKCLGAQ"
     exon            202..367
                     /gene="RPUSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            368..569
                     /gene="RPUSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            570..663
                     /gene="RPUSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            664..808
                     /gene="RPUSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            809..906
                     /gene="RPUSD4"
                     /inference="alignment:Splign:2.1.0"
     exon            907..2468
                     /gene="RPUSD4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2133..2138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPUSD4"
                     /note="hexamer: ATTAAA"
     polyA_site      2150
                     /gene="RPUSD4"
                     /note="major polyA site"
     regulatory      2445..2450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPUSD4"
                     /note="hexamer: AATAAA"
     polyA_site      2468
                     /gene="RPUSD4"
ORIGIN      
        1 cttccttgta agatggcggc gcccaggtgg agcgcgtcgg gcccctggat ccggggaaac
       61 ggccaaggtt gcgggagtct cttcactctc gtctcaaagc cattttgtgc cgctgccgct
      121 gcctctacgg ccataaatgc ccagagatta gcggagaagc tccgagccca gaaacgggaa
      181 caagacacaa agaaggagcc ggtgtccaca aacgctgttc agcggagagt gcaagaaata
      241 gtgcggttca cacggcagct gcagcgagtc caccccaacg tgcttgctaa ggcactgacc
      301 cgaggaattc tccaccagga caagaacctt gtggtcatca ataagcccta cggtctccct
      361 gtgcatggtg gccctggggt ccagctctgc atcactgatg tactacctat cctggcaaag
      421 atgcttcatg gccacaaggc agagcccttg catctgtgcc accggctgga caaggaaacc
      481 acaggtgtaa tggtgttggc ttgggacaag gacatggcac atcaagtcca agagttgttt
      541 agaacccgtc aggtggtgaa gaagtactgg gccatcactg tgcatgtccc catgccctca
      601 gcaggagtcg tggacatccc cattgtggag aaggaggcgc aaggccagca gcaacaccac
      661 aagatgacat tgtccccgag ctaccgcatg gacgatggga aaatggtgaa agtgcggcgc
      721 agccggaatg cgcaagttgc tgtaactcag taccaggtgc tcagcagcac tctctcctcc
      781 gccctcgtgg agctccagcc catcactgga ataaaacatc agcttcgagt tcacttgtct
      841 tttggattgg attgtccaat ccttggtgat cacaagtact cagactggaa taggttggcc
      901 ccccagaagc tgtctgtggg caccctgaag aagctggggc tagaacagtc gaaggcccgc
      961 tacatccccc ttcacctgca cgcccggcag ctgatcctgc ctgccctggg gtccgggaag
     1021 gaggaactca acttggtctg caaacttcct cgcttctttg tgcattccct gcaccgcctg
     1081 cgtttagaga tgccaaatga ggatcaaaat gagaacaatg aagccaagtg tctgggagca
     1141 cagtgaagac catgggagca ccctggcacc tgggagcaca gtgaagaccc tgagagcatc
     1201 ctggcacctg ggagcgcagg ttggcccctg aactgttctt tgtttacagg actctgctaa
     1261 cttctcactt ggaacagact gcgtaagagc caggtgggat aaggtaaagc aactcagctg
     1321 ctacagggct tttaatggag aacaaagtct atttactgat agtttggctg cactgtggaa
     1381 aagcctgctg gaagtctccc tgccgtgggc tctcattgcc aatatggaac agagcccagg
     1441 gccaggcaga ctggggcagt gactggaaaa ggaaaactaa aggtcagaat ccgggatcag
     1501 gaactgtttt tatccagcag tgaagctctt gagctcttag gaaggttccc gtggttggaa
     1561 agaacataat ggttaacaaa tatcacagca tccagggatt gcccagctat agtgtgggtg
     1621 ccctactgaa ctctgattag ggaacctgta taagggtatt gagtgtgagg ttgaggtggg
     1681 acatttgctg agcaaggaga accgatgtga atggcaggca gataacatgc acacatgaag
     1741 ctggctgggt gtaaggcagt agcggggagc ggcatgctgt ctaacagctg ttagctccag
     1801 ctggttgttg ccatgtggga atggattttc tcatttcttc agagaagctg gaaacctaga
     1861 tatttatgtg aaacctccca gtgtattgcc aactaaatca aatttttaaa gatgcttagg
     1921 cacctaagca aataatactt agaggttgaa tttggtctac aggctagcag tttgcagtct
     1981 atgtttaatg aatggtatag aagtttgggg aaaggtgcca tcttgaaaat tctggatcag
     2041 tggttggcat tttcgctgcg tgtagtatgt atcctttcta ggcttggaga tggctttggt
     2101 tggtccgtga atgtagttat gagagtgctg ccattaaaaa atcaaaaatc tctgttgtgg
     2161 aagcgtatct tctgttctta ggtctcagga aggagagggc tatactgaac accattaggg
     2221 atagatggaa atgaccttgg cctccctgct cagctggtcc atctagtttc caccttgttt
     2281 cttgcaaaca aatacacctc acactacttt ttctttctga cagagttgga gtgacagcac
     2341 agttaggggg gtacaccccg ggacagtctt tatatgttcc ctctgtatag atgatgccac
     2401 tttctagccc tttccctgtc tccatggtac ccattactgt gcataataaa tttaactttg
     2461 aaagcaca
//
