LOCUS       NM_019042               3525 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens pseudouridine synthase 7 (PUS7), transcript variant 2,
            mRNA.
ACCESSION   NM_019042 XM_496914 XM_499357
VERSION     NM_019042.5
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 3525)
  AUTHORS   Chang,Y., Jin,H., Cui,Y., Yang,F., Chen,K., Kuang,W., Huo,C.,
            Xu,Z., Li,Y., Lin,A., Yang,B., Liu,W., Xie,S. and Zhou,T.
  TITLE     PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric
            cancer progression
  JOURNAL   Clin Transl Med 14 (8), e1811 (2024)
   PUBMED   39175405
  REMARK    GeneRIF: PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits
            gastric cancer progression.
REFERENCE   2  (bases 1 to 3525)
  AUTHORS   Dong,B., Wang,B., Fan,M., Zhang,J. and Zhao,Z.
  TITLE     Comprehensive analysis to identify PUS7 as a prognostic biomarker
            from pan-cancer analysis to osteosarcoma validation
  JOURNAL   Aging (Albany NY) 16 (10), 9188-9203 (2024)
   PUBMED   38819212
  REMARK    GeneRIF: Comprehensive analysis to identify PUS7 as a prognostic
            biomarker from pan-cancer analysis to osteosarcoma validation.
REFERENCE   3  (bases 1 to 3525)
  AUTHORS   Zhang,Q., Fei,S., Zhao,Y., Liu,S., Wu,X., Lu,L. and Chen,W.
  TITLE     PUS7 promotes the proliferation of colorectal cancer cells by
            directly stabilizing SIRT1 to activate the Wnt/beta-catenin pathway
  JOURNAL   Mol Carcinog 62 (2), 160-173 (2023)
   PUBMED   36222184
  REMARK    GeneRIF: PUS7 promotes the proliferation of colorectal cancer cells
            by directly stabilizing SIRT1 to activate the Wnt/beta-catenin
            pathway.
REFERENCE   4  (bases 1 to 3525)
  AUTHORS   Han,S.T., Kim,A.C., Garcia,K., Schimmenti,L.A., Macnamara,E.,
            Network,U.D., Gahl,W.A., Malicdan,M.C. and Tifft,C.J.
  TITLE     PUS7 deficiency in human patients causes profound
            neurodevelopmental phenotype by dysregulating protein translation
  JOURNAL   Mol Genet Metab 135 (3), 221-229 (2022)
   PUBMED   35144859
  REMARK    GeneRIF: PUS7 deficiency in human patients causes profound
            neurodevelopmental phenotype by dysregulating protein translation.
REFERENCE   5  (bases 1 to 3525)
  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   6  (bases 1 to 3525)
  AUTHORS   Winham,S.J., Cuellar-Barboza,A.B., Oliveros,A., McElroy,S.L.,
            Crow,S., Colby,C., Choi,D.S., Chauhan,M., Frye,M. and
            Biernacka,J.M.
  TITLE     Genome-wide association study of bipolar disorder accounting for
            effect of body mass index identifies a new risk allele in TCF7L2
  JOURNAL   Mol Psychiatry 19 (9), 1010-1016 (2014)
   PUBMED   24322204
REFERENCE   7  (bases 1 to 3525)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   8  (bases 1 to 3525)
  AUTHORS   Armour,S.M., Bennett,E.J., Braun,C.R., Zhang,X.Y., McMahon,S.B.,
            Gygi,S.P., Harper,J.W. and Sinclair,D.A.
  TITLE     A high-confidence interaction map identifies SIRT1 as a mediator of
            acetylation of USP22 and the SAGA coactivator complex
  JOURNAL   Mol Cell Biol 33 (8), 1487-1502 (2013)
   PUBMED   23382074
REFERENCE   9  (bases 1 to 3525)
  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   10 (bases 1 to 3525)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC074013.5, CN481800.1, AK091283.1, BC011396.1, AK128629.1 and
            CA424761.1.
            
            On Nov 23, 2018 this sequence version replaced NM_019042.4.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks an in-frame exon in the 5' coding region, compared to variant
            1. The encoded isoform (b) is shorter than isoform a. Both variants
            2 and 3 encode the same isoform.
            
            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 :: SRR1803617.92487.1,
                                           SRR1660805.61039.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000469408.6/ ENSP00000417402.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC074013.5         52325-52337         c
            14-33               CN481800.1         1-20
            34-188              AK091283.1         1-155
            189-368             BC011396.1         132-311
            369-883             AK091283.1         336-850
            884-2369            BC011396.1         827-2312
            2370-3474           AK128629.1         2319-3423
            3475-3525           CA424761.1         18-68               c
FEATURES             Location/Qualifiers
     source          1..3525
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     gene            1..3525
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /note="pseudouridine synthase 7"
                     /db_xref="GeneID:54517"
                     /db_xref="HGNC:HGNC:26033"
                     /db_xref="MIM:616261"
     exon            1..220
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            221..650
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     CDS             253..2238
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /EC_number="4.2.1.70"
                     /note="isoform b is encoded by transcript variant 2;
                     pseudouridylate synthase 7 homolog; pseudouridylate
                     synthase 7 (putative)"
                     /codon_start=1
                     /product="pseudouridylate synthase 7 homolog isoform b"
                     /protein_id="NP_061915.2"
                     /db_xref="CCDS:CCDS34725.1"
                     /db_xref="GeneID:54517"
                     /db_xref="HGNC:HGNC:26033"
                     /db_xref="MIM:616261"
                     /translation="MEMTEMTGVSLKRGALVVEDNDSGVPVEETKKQKLSECSLTKGQ
                     DGLQNDFLSISEDVPRPPDTVSTGKGGKNSEAQLEDEEEEEEDGLSEECEEEESESFA
                     DMMKHGLTEADVGITKFVSSHQGFSGILKERYSDFVVHEIGKDGRISHLNDLSIPVDE
                     EDPSEDIFTVLTAEEKQRLEELQLFKNKETSVAIEVIEDTKEKRTIIHQAIKSLFPGL
                     ETKTEDREGKKYIVAYHAAGKKALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVL
                     SKYLRVKPNIFSYMGTKDKRAITVQEIAVLKITAQRLAHLNKCLMNFKLGNFSYQKNP
                     LKLGELQGNHFTVVLRNITGTDDQVQQAMNSLKEIGFINYYGMQRFGTTAVPTYQVGR
                     AILQNSWTEVMDLILKPRSGAEKGYLVKCREEWAKTKDPTAALRKLPVKRCVEGQLLR
                     GLSKYGMKNIVSAFGIIPRNNRLMYIHSYQSYVWNNMVSKRIEDYGLKPVPGDLVLKG
                     ATATYIEEDDVNNYSIHDVVMPLPGFDVIYPKHKIQEAYREMLTADNLDIDNMRHKIR
                     DYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFNTDVDNLEGKTPPVFASEGKYRALK
                     MDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWLR"
     exon            651..735
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            736..837
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            838..982
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1094
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1172
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1301
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1427
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1489
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..1650
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1777
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1879
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            1880..2009
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2010..2101
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     exon            2102..3525
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3454..3459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /note="hexamer: AATAAA"
     polyA_site      3474
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /note="major polyA site"
     regulatory      3493..3498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
                     /note="hexamer: AATAAA"
     polyA_site      3525
                     /gene="PUS7"
                     /gene_synonym="IDDABS"
ORIGIN      
        1 agtcgggccg cggcgcgtcg ctgcgccgca cgtgtgcgag cccggccgcc ggtgagtcgg
       61 ctggagcgca tctggtcctc cgcgcggaaa gcgctgcttt tgcctggccg ccctagccgc
      121 tggctcatcc aagtggcctt cgccgctctc ttgcgtccca accagagcgc tggccacctc
      181 gccgcccagc tcacgccgcg cccgcgctcc caggctccgg gttttcttaa atgttttctt
      241 ggagccttaa agatggagat gacagaaatg actggtgtgt cgctgaaacg tggggcactg
      301 gttgtcgaag ataatgacag tggagtccca gttgaagaga caaaaaaaca gaagctgtcg
      361 gaatgcagtc taaccaaagg tcaagatggg ctacagaatg actttctgtc catcagtgaa
      421 gacgtgcctc ggcctcctga cactgtcagt actgggaaag gtggaaagaa ttctgaggct
      481 cagttggaag atgaggaaga agaggaggaa gatggacttt cagaggagtg cgaggaggag
      541 gaatcagaga gttttgcaga catgatgaag catggactca ctgaggctga cgtaggcatc
      601 accaagtttg tgagttctca tcaagggttc tcgggaatct taaaagaaag atactccgac
      661 ttcgttgttc atgaaatagg aaaagatgga cggatcagcc atttgaatga cttgtccatt
      721 ccagtggatg aggaggaccc ttcagaagac atatttacag ttttgacagc tgaagaaaag
      781 cagcgattgg aagagctcca gctgttcaaa aataaggaaa ccagtgttgc cattgaggtt
      841 atcgaggaca ccaaagagaa aagaaccatc atccatcagg ctatcaaatc tctgtttcca
      901 ggattagaga caaaaacaga ggatagggag gggaagaaat acattgtagc ctaccacgca
      961 gctgggaaaa aggctttggc aaatccaaga aaacattctt ggccaaaatc taggggaagt
     1021 tactgccact tcgtactata taaggaaaac aaagacacca tggatgctat taatgtactc
     1081 tccaaatact taagagtcaa gccaaatata ttctcctaca tgggaaccaa agataaaagg
     1141 gctataacag ttcaagaaat tgctgttctc aaaataactg cacaaagact tgcccacctg
     1201 aataagtgct tgatgaactt taagctaggg aatttcagct atcaaaaaaa cccactgaaa
     1261 ttgggagagc ttcaaggaaa ccacttcact gttgttctca gaaatataac aggaactgat
     1321 gaccaagtac agcaagctat gaactctctc aaggagattg gatttattaa ctactatgga
     1381 atgcaaagat ttggaaccac agctgtccct acgtatcagg ttggaagagc tatactacaa
     1441 aattcctgga cagaagtcat ggatttaata ttgaaacccc gctctggagc tgaaaagggc
     1501 tacttggtta aatgcagaga agaatgggca aagaccaaag acccaactgc tgccctcaga
     1561 aaactacctg tcaaaaggtg tgtggaaggg cagctgcttc gaggactttc aaaatatgga
     1621 atgaagaata tagtctctgc atttggcata atacccagaa ataatcgctt aatgtatatt
     1681 catagctacc aaagctatgt gtggaataac atggtaagca agaggataga agactatgga
     1741 ctaaaacctg ttccagggga cctcgttctc aaaggagcca cagccaccta tattgaggaa
     1801 gatgatgtta ataattactc tatccatgat gtggtaatgc ccttgcctgg tttcgatgtt
     1861 atctacccaa agcataaaat tcaagaagcc tacagggaaa tgctcacagc tgacaatctt
     1921 gatattgaca acatgagaca caaaattcga gattattcct tgtcaggggc ctaccgaaag
     1981 atcattattc gtcctcagaa tgttagctgg gaagtcgttg catatgatga tcccaaaatt
     2041 ccacttttca acacagatgt ggacaaccta gaagggaaga caccaccagt ttttgcttct
     2101 gaaggcaaat acagggctct gaaaatggat ttttctctac ccccttctac ttacgccacc
     2161 atggccattc gagaagtgct aaaaatggat accagtatca agaaccagac gcagctgaat
     2221 acaacctggc ttcgctgagc agtaccttgt ccacagatta gaaaacgtac acaagtgttt
     2281 gcttcctggc tccctgtgca tttttgtctt agttcagact catatatgga tttcaaatct
     2341 ttgtaataaa aattatttgt atttttaagt ttttattagc ttaaagaaat aatttgcaat
     2401 atttgtacat gtacacaaat cctgaggttc ttaattttag ctcagaatat aaattagtca
     2461 aaatacactt caggtgctta aatcagagta aaatgtcagc tttacaataa taaaaaaagg
     2521 actttggttt aaagtagcag gtttaggttt tgctacattc tcaaaagaca gcaggagtat
     2581 ttgacacatc tgtgatggag tatacaacaa tgcattttaa gagcaaatgc aacaaaacaa
     2641 atctggacta tggataaata atttgagagc tgccacccac aaatataaat acagtactca
     2701 tgctgactga aataataaga catctacaaa tttataaaca aaaagtgatt gtcattatcc
     2761 tgcttatgta ctagattcag gcaagcatta tagacttttt ggttgcggtg gcttttgcat
     2821 ttatattatc aatgccttgc aggaacgttg cattgatagg cccattttat ttttttattt
     2881 tttttttcga gacaggatct cactctgtag cacaggctgg attgcagtgc aatcctgcaa
     2941 ttctcaatct tgcactgcag cctcgacctc ccaggctcca gtgactctcc cacctcagcc
     3001 tcctaagtag ctgggagtac aggcgcgcac caccacgcct agctgatttt tgtatttttt
     3061 tgtagagacg ggggtttggc catgttgccg aggctaactc ctgggattac aggcatgagc
     3121 tgtgctggcc gggttttttt ttcttgatgt aaacgtgtac agctgtttta ttagttaagg
     3181 tctaattttt actctaggtg ccttttatgt tcagaactct ttccactgga ctggtatttg
     3241 ctcaaaaata aataatggta gagaagaaaa ctataaaaat ggacaaggct ttcttctatc
     3301 agtagcgttt accctttgtc accagtggct ttggtatttc catgtctggc attgcataaa
     3361 cttctctggt gtgaaaggat aaatatgcct ttctaaagtt gtatatcaaa attgtatcaa
     3421 tttttatttt ctatgatttc tagaaacaaa tgtaataaat atttttaaaa tctcctttct
     3481 actggttatg taaataaatc aaataaatat atcaaaatga gtgca
//
