LOCUS       NM_025215               4041 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens pseudouridine synthase 1 (PUS1), transcript variant 1,
            mRNA.
ACCESSION   NM_025215
VERSION     NM_025215.6
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 4041)
  AUTHORS   Hu,Y.X., Diao,L.T., Hou,Y.R., Lv,G., Tao,S., Xu,W.Y., Xie,S.J.,
            Ren,Y.H. and Xiao,Z.D.
  TITLE     Pseudouridine synthase 1 promotes hepatocellular carcinoma through
            mRNA pseudouridylation to enhance the translation of oncogenic
            mRNAs
  JOURNAL   Hepatology 80 (5), 1058-1073 (2024)
   PUBMED   38015993
  REMARK    GeneRIF: Pseudouridine synthase 1 promotes hepatocellular carcinoma
            through mRNA pseudouridylation to enhance the translation of
            oncogenic mRNAs.
REFERENCE   2  (bases 1 to 4041)
  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   3  (bases 1 to 4041)
  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 4041)
  AUTHORS   Carlile,T.M., Martinez,N.M., Schaening,C., Su,A., Bell,T.A.,
            Zinshteyn,B. and Gilbert,W.V.
  TITLE     mRNA structure determines modification by pseudouridine synthase 1
  JOURNAL   Nat Chem Biol 15 (10), 966-974 (2019)
   PUBMED   31477916
  REMARK    GeneRIF: These results demonstrate a structure-dependent mode of
            mRNA target recognition by a conserved pseudouridine synthase and
            implicate modulation of RNA structure as the probable mechanism to
            regulate mRNA pseudouridylation.
REFERENCE   5  (bases 1 to 4041)
  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   6  (bases 1 to 4041)
  AUTHORS   Fernandez-Vizarra,E., Berardinelli,A., Valente,L., Tiranti,V. and
            Zeviani,M.
  TITLE     Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two
            brothers affected by myopathy, lactic acidosis and sideroblastic
            anaemia (MLASA)
  JOURNAL   J Med Genet 44 (3), 173-180 (2007)
   PUBMED   17056637
  REMARK    GeneRIF: A new homozygous stop mutation (E220X)predicts a protein
            missing 208/427 amino acid residues on the C terminus. The nuclear
            isoform has an N-terminal extension absent in the mature
            mitochondrial isoform.
REFERENCE   7  (bases 1 to 4041)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   8  (bases 1 to 4041)
  AUTHORS   Patton,J.R., Bykhovskaya,Y., Mengesha,E., Bertolotto,C. and
            Fischel-Ghodsian,N.
  TITLE     Mitochondrial myopathy and sideroblastic anemia (MLASA): missense
            mutation in the pseudouridine synthase 1 (PUS1) gene is associated
            with the loss of tRNA pseudouridylation
  JOURNAL   J Biol Chem 280 (20), 19823-19828 (2005)
   PUBMED   15772074
  REMARK    GeneRIF: MLASA is associated with absent or greatly reduced tRNA
            pseudouridylation at specific sites, implicating this pathway in
            its molecular pathogenesis.
REFERENCE   9  (bases 1 to 4041)
  AUTHORS   Bykhovskaya,Y., Casas,K., Mengesha,E., Inbal,A. and
            Fischel-Ghodsian,N.
  TITLE     Missense mutation in pseudouridine synthase 1 (PUS1) causes
            mitochondrial myopathy and sideroblastic anemia (MLASA)
  JOURNAL   Am J Hum Genet 74 (6), 1303-1308 (2004)
   PUBMED   15108122
  REMARK    GeneRIF: Missense mutation in pseudouridine synthase 1 causes
            mitochondrial myopathy and sideroblastic anemia
REFERENCE   10 (bases 1 to 4041)
  AUTHORS   Chen,J. and Patton,J.R.
  TITLE     Cloning and characterization of a mammalian pseudouridine synthase
  JOURNAL   RNA 5 (3), 409-419 (1999)
   PUBMED   10094309
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK074659.1, AI566545.1 and
            AC131009.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_025215.5.
            
            Summary: This gene encodes a pseudouridine synthase that converts
            uridine to pseudouridine once it has been incorporated into an RNA
            molecule. The encoded enzyme may play an essential role in tRNA
            function and in stabilizing the secondary and tertiary structure of
            many RNAs. A mutation in this gene has been linked to mitochondrial
            myopathy and sideroblastic anemia. Alternate splicing results in
            multiple transcript variants.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            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 :: AK074659.1, AF318369.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376649.8/ ENSP00000365837.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2002              AK074659.1         9-2010
            2003-2006           AI566545.1         1-4                 c
            2007-4041           AC131009.7         161513-163547
FEATURES             Location/Qualifiers
     source          1..4041
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..4041
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /note="pseudouridine synthase 1"
                     /db_xref="GeneID:80324"
                     /db_xref="HGNC:HGNC:15508"
                     /db_xref="MIM:608109"
     exon            1..521
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             448..1731
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /EC_number="5.4.99.12"
                     /note="isoform 1 is encoded by transcript variant 1; tRNA
                     uridine isomerase I; tRNA pseudouridine synthase A,
                     mitochondrial; tRNA pseudouridine synthase 1;
                     mitochondrial tRNA pseudouridine synthase A; tRNA
                     pseudouridylate synthase I; tRNA pseudouridine(38-40)
                     synthase; pseudouridylate synthase 1; pseudouridylate
                     synthase 1 homolog"
                     /codon_start=1
                     /product="pseudouridylate synthase 1 homolog isoform 1"
                     /protein_id="NP_079491.2"
                     /db_xref="CCDS:CCDS9275.2"
                     /db_xref="GeneID:80324"
                     /db_xref="HGNC:HGNC:15508"
                     /db_xref="MIM:608109"
                     /translation="MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQ
                     DRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQR
                     NVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKV
                     WLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQ
                     DETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREG
                     LEFAVIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLV
                     LERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLS
                     TLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD"
     exon            522..750
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /inference="alignment:Splign:2.1.0"
     exon            751..888
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /inference="alignment:Splign:2.1.0"
     exon            889..991
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1683
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..4041
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1979..1984
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /note="hexamer: AACAAG"
     polyA_site      2004
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /note="major polyA site"
     regulatory      4018..4023
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
                     /note="hexamer: AATAAA"
     polyA_site      4041
                     /gene="PUS1"
                     /gene_synonym="MLASA1"
ORIGIN      
        1 agtcagccgc gtcgcgaatg gggcaggagc gagcctctct ggtcccgacg cgggtggccc
       61 gggtctcctc gactcctgag gaaagcccac cgggcggggc gggaggtgaa gaggctgggg
      121 aagtcagagg ttaacctggg cgtcagggga cgttggagtt gatccgtcag ggtcccgggg
      181 cggtctgggg gcagtagaga cggggcttgg gcgcggggcc tgagaggtca ggggtcagca
      241 ggagtgaggc tggggcgtcc aggtccgaga ggtcaggggt cagctggaga ggggctgggg
      301 cgccggtttc ccggaggtca ggggtcagaa ggaacagggc tgcagcgtca gggtccgaga
      361 ggttaggggt cggcagaggc ggagctgggg cactgggggt caggggtcgg ggatcagggc
      421 ggggtcgggt gcactggtag cctgcgcatg ggcctccagc ttcgcgcgct gttgggagcc
      481 ttcggacggt ggaccctgcg cctgggaccg cgtccgtcct gctcgccgcg catggccggg
      541 aacgcggagc cgccgcccgc cggagccgca tgcccccagg accggaggtc ctgcagcggc
      601 cgggccgggg gcgaccgcgt ctgggaggac ggagaacatc cggcgaagaa gctcaagagc
      661 ggtggcgacg aggagcggcg cgagaagccg cccaagcgga agatcgtgct gctcatggcc
      721 tattcgggca agggctacca cggcatgcag aggaatgtcg ggtcctcaca attcaaaaca
      781 attgaagatg acttggtgtc cgccctcgtc cggtcaggct gtattcctga aaatcatggt
      841 gaggacatga ggaaaatgtc cttccagcgc tgcgcccgga cagacaaggg tgtgtccgca
      901 gccggccagg tggtatccct gaaggtgtgg ctgattgacg acattctaga aaagatcaac
      961 agccaccttc cctctcacat tcggattctg ggactgaagc gggtcacggg cgggtttaac
     1021 tccaagaaca gatgtgatgc caggacctat tgctacctgc tgcccacgtt tgcctttgcg
     1081 cacaaggacc gggacgttca ggatgagacc taccgcctga gcgccgagac gctgcagcag
     1141 gtcaacaggc tcctggcctg ctacaagggc acgcacaact tccacaattt cacctcgcag
     1201 aaggggccgc aggatcccag tgcctgccgc tacatcctgg agatgtactg cgaggaaccc
     1261 tttgtgcggg agggcctgga gtttgcggtg atcagggtga agggccagag cttcatgatg
     1321 catcagatcc ggaagatggt cggcctggtg gtggccattg tgaagggtta tgcccctgag
     1381 agcgtgctgg agcgcagctg gggcacagag aaggtggacg tgcccaaggc gcccggactc
     1441 ggcctggtcc tggagagggt gcacttcgag aagtacaacc agcgctttgg caacgatggg
     1501 ctgcatgagc cgctggactg ggcgcaggag gaaggaaagg tcgcagcctt caaggaggag
     1561 cacatctacc ccaccatcat cggcaccgag cgggacgaac gctccatggc ccagtggctg
     1621 agcaccttgc ccatccacaa cttcagtgcc accgctctca cggcaggtgg cacgggcgcc
     1681 aaggtgccca gtcccctgga aggcagtgaa ggggacggag acactgactg aggcgatggg
     1741 agctgcccac cagagtgcct ctgagcagct cacagtgtgt gcccagatgt gccacccctg
     1801 tgggcagcaa gaagctggga tcgctgcagc catgttttcc cggccatgcc ggcgttgtaa
     1861 cctcaggacc ttcccttgta ggaacagcct ttctcgaatc tgttttcagc tcttgcattg
     1921 catagatgaa cctcagcatg taaagaacta tttttttaaa gaagtgattt tcttattaaa
     1981 caagtacaaa ttttgcttag tcaatccttg gtttgccttt ttcttagtct tttttaacat
     2041 ttttttcgtc cacagagatg agcacagcat ggtgtcccgt tgagaacaga tacggctgaa
     2101 caaaagagaa aggcccagga ggttggctca gcctgtaatc ccagcacttg ggaggctgag
     2161 gtgggcagat cgcttgagta caggagttcc agaccagcct gggtaaaatg gtgaaaccgc
     2221 gtctctgcaa aagattagct gggcatggcg gcatgccctg tagttcagct gctcaggagg
     2281 ctgaggtggg aggattgcct gagtctggag aagtcgaggc tgccctgatt gccactgcac
     2341 tcaaaaaaaa aaaaaacaac aacaaccaaa aaaactggcc aggcgtggtg gctcatgcct
     2401 gtaatcccaa cacttcggga ggctgaggca ggtggattac ttgaggtcgg gagtttgaga
     2461 ccagcctgac cagcatggag aaaccccgtc tctactaaaa atacaaaaat tagctgggcg
     2521 cgatggtggg cgcctgtaat cccagctact tgggaggctg aggcaggaga atcgcttgaa
     2581 cctgggaggt ggagattgca gtgagccaag attgcgccac tgcactccag cctgggtgag
     2641 agagccaaac tccgtcaaaa aaaaaacaac aaaaaaaccc agcatcctgc actctgcagg
     2701 gtggtcccga ggcagggctg tggagggcac tgaagcaggg gccccgctga cctgccgcat
     2761 ccccgagagg ggtggcagcc acgggctcct cttcctagac agccccatgc gtgcagcctt
     2821 tgccctggtt gcaggtcggt actcgcctca gcactgtccc ggtgccaggc aggtgggggt
     2881 tggggcagag ggcagaagga aagggtgcat cgcggaacag gcccttagtg gagcttactg
     2941 gaagacccca ccagccgctg ctgcacgtca ttggtcacag gtgcatccag cggcccttcg
     3001 tagctgcaag ggaggctggg gaagactgct tttgaagtgg cgcttagcgt ggaacaaaac
     3061 acactgcgtt agccaggagc aggggatcct tggctggcgg gctgccagga gcccagggag
     3121 gggctcagcg gaggaagtgc cgtgcataca cgtggcctcc cagcctgcag cccgtgggcg
     3181 cacgtgacca atgcacgagt gcctgatgcc ccagcggtgc acacaactaa tgcgcatgcg
     3241 cctgacgtgc caacaatgca tgtgactaat gcgcagtcgc ctgtcgcccc agcagtgcgt
     3301 gagtgacatg tgcacgtgcc catgatgcgg tggacaccgt gtgtgagaag tggggcagga
     3361 caggtgggat tgggagatgc ttcaggcagt gagctcctag ggcgtggggt gcccaagaga
     3421 gtggagctgg ttttagggat tttggccaga ggagcagtgg ggctcactgc ttcgggagcc
     3481 agggagtgca ggtgtgaggc ccactgggct ttgggtttga gggatggatg agctgggccg
     3541 ttaactggaa cgggagacag ggaaaggaat gggtttggag aacaagcagg agcttggttc
     3601 taagcatgtt aattttacct gggatagaca ggactttatt ttttattttt attttgtttg
     3661 agacggagtc tcgctgtgtt gcccagcctg gagtgcagtg gcgcgatctc ggctcactgc
     3721 aacctgcgcc tcccgggctc aagcgattct ccttcctcag cctccagagt agctgagagt
     3781 acaggtgccc gctgccacgc ccggctgatt tttgtatttt tggtagagac agggtttcac
     3841 catgttggtc aggctggtct caaactccta agctcaggtg atccacccgc cttggcctcc
     3901 caaagtgctg ggattacagg cgtgagccac cgtgcccggc ctgggtgacc catttaaatc
     3961 acttttgatg atcctggggt atgtgacatt ttaaaataat atgtatatat ggaaggaaat
     4021 aaaaaactat aaaaaaggga a
//
