LOCUS       NM_031307               1829 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens pseudouridine synthase 3 (PUS3), transcript variant 1,
            mRNA.
ACCESSION   NM_031307
VERSION     NM_031307.4
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 1829)
  AUTHORS   Lin,T.Y., Kleemann,L., Jezowski,J., Dobosz,D., Rawski,M.,
            Indyka,P., Wazny,G., Mehta,R., Chramiec-Glabik,A., Koziej,L.,
            Ranff,T., Fufezan,C., Wawro,M., Kochan,J., Bereta,J., Leidel,S.A.
            and Glatt,S.
  TITLE     The molecular basis of tRNA selectivity by human pseudouridine
            synthase 3
  JOURNAL   Mol Cell 84 (13), 2472-2489 (2024)
   PUBMED   38996458
  REMARK    GeneRIF: The molecular basis of tRNA selectivity by human
            pseudouridine synthase 3.
REFERENCE   2  (bases 1 to 1829)
  AUTHORS   Lin,T.Y., Smigiel,R., Kuzniewska,B., Chmielewska,J.J., Kosinska,J.,
            Biela,M., Biela,A., Koscielniak,A., Dobosz,D., Laczmanska,I.,
            Chramiec-Glabik,A., Jezowski,J., Nowak,J., Gos,M.,
            Rzonca-Niewczas,S., Dziembowska,M., Ploski,R. and Glatt,S.
  TITLE     Destabilization of mutated human PUS3 protein causes intellectual
            disability
  JOURNAL   Hum Mutat 43 (12), 2063-2078 (2022)
   PUBMED   36125428
  REMARK    GeneRIF: Destabilization of mutated human PUS3 protein causes
            intellectual disability.
REFERENCE   3  (bases 1 to 1829)
  AUTHORS   Nostvik,M., Kateta,S.M., Schonewolf-Greulich,B., Afenjar,A.,
            Barth,M., Boschann,F., Doummar,D., Haack,T.B., Keren,B.,
            Livshits,L.A., Mei,D., Park,J., Pisano,T., Prouteau,C., Umair,M.,
            Waqas,A., Ziegler,A., Guerrini,R., Moller,R.S. and Tumer,Z.
  TITLE     Clinical and molecular delineation of PUS3-associated
            neurodevelopmental disorders
  JOURNAL   Clin Genet 100 (5), 628-633 (2021)
   PUBMED   34415064
  REMARK    GeneRIF: Clinical and molecular delineation of PUS3-associated
            neurodevelopmental disorders.
REFERENCE   4  (bases 1 to 1829)
  AUTHORS   Shaheen,R., Han,L., Faqeih,E., Ewida,N., Alobeid,E., Phizicky,E.M.
            and Alkuraya,F.S.
  TITLE     A homozygous truncating mutation in PUS3 expands the role of tRNA
            modification in normal cognition
  JOURNAL   Hum Genet 135 (7), 707-713 (2016)
   PUBMED   27055666
  REMARK    GeneRIF: Consistent with the known role of Pus3 in isomerizing
            uracil to pseudouridine at positions 38 and 39 in tRNA, we found a
            significant reduction in this post-transcriptional modification of
            tRNA in patient cells
REFERENCE   5  (bases 1 to 1829)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   6  (bases 1 to 1829)
  AUTHORS   Chen,J. and Patton,J.R.
  TITLE     Pseudouridine synthase 3 from mouse modifies the anticodon loop of
            tRNA
  JOURNAL   Biochemistry 39 (41), 12723-12730 (2000)
   PUBMED   11027153
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000842.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_031307.3.
            
            Summary: The protein encoded by this gene catalyzes the formation
            of tRNA pseudouridine from tRNA uridine at position 39 in the
            anticodon stem and loop of transfer RNAs. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004822.1, AK055702.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000227474.8/ ENSP00000227474.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AP000842.6         65435-65471         c
            38-461              AP000842.6         58172-58595         c
            462-1027            AP000842.6         57489-58054         c
            1028-1829           AP000842.6         55750-56551         c
FEATURES             Location/Qualifiers
     source          1..1829
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1829
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /note="pseudouridine synthase 3"
                     /db_xref="GeneID:83480"
                     /db_xref="HGNC:HGNC:25461"
                     /db_xref="MIM:616283"
     exon            1..37
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /inference="alignment:Splign:2.1.0"
     exon            38..461
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1529
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /EC_number="5.4.99.45"
                     /note="isoform 1 is encoded by transcript variant 1; tRNA
                     pseudouridylate synthase 3; tRNA-uridine isomerase 3; tRNA
                     pseudouridine synthase 3; tRNA pseudouridine(38/39)
                     synthase"
                     /codon_start=1
                     /product="tRNA pseudouridine(38/39) synthase isoform 1"
                     /protein_id="NP_112597.4"
                     /db_xref="CCDS:CCDS8466.1"
                     /db_xref="GeneID:83480"
                     /db_xref="HGNC:HGNC:25461"
                     /db_xref="MIM:616283"
                     /translation="MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIREN
                     SAGAGKTKRAFDFSAHGRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKTRL
                     VESRQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRY
                     THILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVG
                     THDFRNLCKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLY
                     HQVRCMMAILFLIGQGMEKPEIIDELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKW
                     IYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVK
                     PSVIKQTSAFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETKAK
                     RDCNDTLEEENTNLETPTKRVCVDTEIKSII"
     exon            462..1027
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1829
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1807..1812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /note="hexamer: ATTAAA"
     polyA_site      1829
                     /gene="PUS3"
                     /gene_synonym="2610020J05Rik; DEG1; FKSG32; MRT55;
                     NEDMIGS"
                     /note="major polyA site"
ORIGIN      
        1 cctttctcgg aaacgcggcg cggccggctg ccggaaaaca gggcagacct gtatggttcg
       61 tttattcctg gggttgtcat atcatggctt ataatgacac agacagaaac cagactgaga
      121 agctcctaaa aagagtacga gaactggagc aagaggtgca aagacttaaa aaggaacagg
      181 ccaaaaataa ggaggactca aacattagag aaaattcagc aggagctgga aaaactaagc
      241 gtgcatttga tttcagtgct catggccgaa gacacgtagc cctaagaata gcctatatgg
      301 gctggggata ccagggcttt gctagtcagg aaaacacaaa taataccatt gaagagaaac
      361 tgtttgaagc tctaaccaag actcgactag tagaaagcag acagacatcc aactatcacc
      421 gatgtgggag aacagataaa ggagttagtg cctttggaca ggtgatctca cttgaccttc
      481 gctctcagtt tccaaggggc agggattccg aggactttaa tgtaaaagag gaggctaatg
      541 ctgctgctga agagatccgt tatacccaca ttctcaatcg ggtactccct ccagacatcc
      601 gtatattggc ctgggcccct gtagaaccaa gcttcagtgc taggttcagc tgccttgagc
      661 ggacttaccg ctattttttc cctcgtgctg atttagatat tgtaaccatg gattatgcag
      721 ctcagaagta tgttggcacc catgatttca ggaacttgtg taaaatggat gtagccaacg
      781 gtgtgattaa ttttcagagg actattctat ctgctcaagt acagctagtg ggccagagcc
      841 caggtgaggg gagatggcaa gaacctttcc agttatgtca gtttgaagtg actggccagg
      901 cattccttta tcatcaagtc cgatgtatga tggctatcct ctttctgatt ggccaaggaa
      961 tggagaagcc agagattatt gatgagctgc tgaatataga gaaaaatccc caaaagcctc
     1021 aatatagtat ggctgtagaa tttcctctag tcttatatga ctgtaagttt gaaaatgtca
     1081 agtggatcta tgaccaggag gctcaggagt tcaatattac ccacctacaa caactgtggg
     1141 ctaatcatgc tgtcaaaact cacatgttgt atagtatgct acaaggactg gacactgttc
     1201 cagtaccctg tggaatagga ccaaagatgg atggaatgac agaatgggga aatgttaagc
     1261 cctctgtcat aaagcagacc agtgcctttg tagaaggagt gaagatgcgc acatataagc
     1321 ccctcatgga ccgtcctaaa tgccaaggac tggaatcccg gatccagcat tttgtacgta
     1381 ggggacgaat tgagcaccca catttattcc atgaggaaga aacaaaagcc aaaagggact
     1441 gtaatgacac actagaggaa gagaatacta atttggagac accaacgaag agggtctgtg
     1501 ttgacacaga aattaaaagc atcatttaac catagacaat ttgccaggat ctaggaacca
     1561 cctaatggta ggtggacaga aaaggaaaaa aaaaaaaatt tacttgcaag tactaggaat
     1621 tcagatgatc agctcttaaa agaaaaaaaa aagcaaaaag actaaagccc tattaaggaa
     1681 gttattgctt taataagaaa tttcaaatat tctcttatcc cggtccaaaa ggattaagcg
     1741 attaaagaac gtaaaatgga gatgtattta catacacctg gaaacctgtg ccttgtattc
     1801 aaattcatta aagcctaatc ctgcaagta
//
