LOCUS       NM_001346790            4178 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens TSR2 ribosome maturation factor (TSR2), transcript
            variant 3, mRNA.
ACCESSION   NM_001346790
VERSION     NM_001346790.2
KEYWORDS    RefSeq.
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 4178)
  AUTHORS   Meng,L.B., Hu,G.F., Lv,T., Lv,C., Liu,L. and Zhang,P.
  TITLE     Higher expression of TSR2 aggravating hypertension via the PPAR
            signaling pathway
  JOURNAL   Aging (Albany NY) 16 (10), 8980-8997 (2024)
   PUBMED   38814181
  REMARK    GeneRIF: Higher expression of TSR2 aggravating hypertension via the
            PPAR signaling pathway.
REFERENCE   2  (bases 1 to 4178)
  AUTHORS   Xia,Y., Wang,L., Chen,X., Zhang,Y., Sun,A. and Chen,D.
  TITLE     [TSR2 overexpression inhibits proliferation and invasion of gastric
            cancer cells by downregulating the PI3K/AKT signaling pathway]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 44 (5), 913-919 (2024)
   PUBMED   38862449
  REMARK    GeneRIF: [TSR2 overexpression inhibits proliferation and invasion
            of gastric cancer cells by downregulating the PI3K/AKT signaling
            pathway].
REFERENCE   3  (bases 1 to 4178)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 4178)
  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   5  (bases 1 to 4178)
  AUTHORS   Schutz,S., Michel,E., Damberger,F.F., Oplova,M., Pena,C.,
            Leitner,A., Aebersold,R., Allain,F.H. and Panse,V.G.
  TITLE     Molecular basis for disassembly of an importin:ribosomal protein
            complex by the escortin Tsr2
  JOURNAL   Nat Commun 9 (1), 3669 (2018)
   PUBMED   30201955
  REMARK    GeneRIF: eS26-ESS and Tsr2 are components of a nuclear sorting
            system that co-evolved with the emergence of the nucleocytoplasmic
            barrier and transport carriers
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4178)
  AUTHORS   Gripp,K.W., Curry,C., Olney,A.H., Sandoval,C., Fisher,J.,
            Chong,J.X., Pilchman,L., Sahraoui,R., Stabley,D.L. and
            Sol-Church,K.
  CONSRTM   UW Center for Mendelian Genomics
  TITLE     Diamond-Blackfan anemia with mandibulofacial dystostosis is
            heterogeneous, including the novel DBA genes TSR2 and RPS28
  JOURNAL   Am J Med Genet A 164A (9), 2240-2249 (2014)
   PUBMED   24942156
  REMARK    GeneRIF: A likely pathogenic X-linked mutation affecting a highly
            conserved residue was found in TSR2 and De novo mutations affecting
            the RPS28 start codon were found in two unrelated probands,
            identifying RPS28 as a novel disease gene.
REFERENCE   7  (bases 1 to 4178)
  AUTHORS   He,H., Zhu,D., Sun,J., Pei,R. and Jia,S.
  TITLE     The novel protein TSR2 inhibits the transcriptional activity of
            nuclear factor-kappaB and induces apoptosis
  JOURNAL   Mol Biol (Mosk) 45 (3), 496-502 (2011)
   PUBMED   21790011
  REMARK    GeneRIF: This data for the first time suggests that TSR2 is
            involved in the NF-kappaB signaling pathway and may regulate
            apoptosis.
REFERENCE   8  (bases 1 to 4178)
  AUTHORS   Reddy,P.H., Stockburger,E., Gillevet,P. and Tagle,D.A.
  TITLE     Mapping and characterization of novel (CAG)n repeat cDNAs from
            adult human brain derived by the oligo capture method
  JOURNAL   Genomics 46 (2), 174-182 (1997)
   PUBMED   9417904
REFERENCE   9  (bases 1 to 4178)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301769
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z85987.13.
            
            On Aug 13, 2020 this sequence version replaced NM_001346790.1.
            
            Summary: The protein encoded by this gene appears to repress the
            transcription of NF-kappaB and may be involved in apoptosis.
            Defects in this gene are a cause of Diamond-Blackfan anemia.
            [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (3), as well as variants 4 and 5,
            encodes isoform c.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803612.421961.1, SRR1660805.374631.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1965299, SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-99                Z85987.13          67034-67132         c
            100-301             Z85987.13          66645-66846         c
            302-393             Z85987.13          64045-64136         c
            394-561             Z85987.13          63352-63519         c
            562-4178            Z85987.13          59504-63120         c
FEATURES             Location/Qualifiers
     source          1..4178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..4178
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="TSR2 ribosome maturation factor"
                     /db_xref="GeneID:90121"
                     /db_xref="HGNC:HGNC:25455"
                     /db_xref="MIM:300945"
     exon            1..99
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     exon            100..301
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     exon            302..393
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     exon            394..561
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             406..696
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="isoform c is encoded by transcript variant 3; WGG
                     motif containing 1; pre-rRNA-processing protein TSR2
                     homolog; TSR2, 20S rRNA accumulation, homolog; escortin"
                     /codon_start=1
                     /product="pre-rRNA-processing protein TSR2 homolog isoform
                     c"
                     /protein_id="NP_001333719.1"
                     /db_xref="GeneID:90121"
                     /db_xref="HGNC:HGNC:25455"
                     /db_xref="MIM:300945"
                     /translation="MFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDD
                     VDSVEEMEVTATNDGAATDGVCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK"
     exon            562..4178
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1424..1429
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="hexamer: AATAAT"
     polyA_site      1443
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="major polyA site"
     polyA_site      1667
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
     regulatory      4149..4154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="hexamer: AATAAA"
     polyA_site      4178
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
ORIGIN      
        1 gtggactggg gccggataat ggcgggcgct gcagaagatg cgcgagctct tttccgggct
       61 ggggtctgcg cggccctgga ggcctggccg gccttgcaga tcgctgtgga gaatggcttc
      121 gggggtgtgc acagccagga gaaggccaag tggctggggg gtgcagtgga ggattacttc
      181 atgcgcaatg gtgagtgaat gtgaggcgcc gcgacccgcc tgtgtggggg tgtggagagg
      241 aggagcccca tcccgcagag cctgcatttc ctctcgagca gttgtggatt ggtacctaaa
      301 gctgacttgg agctagatga ggtggaagac ttccttggag agctgttgac caacgagttt
      361 gatacagttg tggaagacgg gagtctgccc cagcaactgc agaccatgtt ccaccacttc
      421 cagaggggtg atggggctgc tctgagggag atggcctcct gcatcactca gagaaaatgc
      481 aaggtcacag ccactgcact taagacagct agagagactg atgaggatga agatgatgtg
      541 gacagtgtgg aagagatgga ggtcacagct acgaatgatg gggctgctac agatggggtc
      601 tgcccccagc ctgaaccctc tgatccagac gctcagacta ttaaggaaga ggatatagtg
      661 gaagatggct ggaccattgt ccggagaaaa aaatgagtgg ggatgattgg aaatggcttt
      721 gggcccttat ttgctgttct aagagttgtc tgtaggggtt ttttttttga ggattgcaga
      781 cctgtggact ggttacccca tctccaccct ctcccctgtt cctctgtctg gctccctcca
      841 gggcaaggaa aacctagggt ccttggtctt gggggtgggg ggaccttttc cagcatattc
      901 ccctgggcct ttagttaaca tccgagtgac gaagccgggt tccccagtac agtgtctttt
      961 gggtgcggtc attgtgagga aggggatgag tgagtgtggg tgtggctgga ggaggagcta
     1021 gatgccggtg gacagtgggc aggtggattt ggggaggaga ggatcagcag cagcagcagt
     1081 actcagtgat agggggctgg ctgggtcagg aatggtgaga tgaacatgca agtggaagag
     1141 agaatagttg aaaatgtgaa tgaaagtagc tctggagcct ctcccttacc ccaccccaca
     1201 cacacgcaac agctctgtac ccctgcccag aacttggaac ctcccaggaa tgctgccttc
     1261 cttcagccca gcctccagtc ctgggttccc tcaggaattc gaagaccttg gctaggtggt
     1321 gagcttggaa gagctgggct ttgttttctg tctcctctaa cctctttcct tactccttat
     1381 cccatcccat ttgagttcag gggtgaggct taagatctta ataaataata ccttactgct
     1441 taatctgtgg cttgacctgt gagtagtagc cttagaatca gccttctggg agctcagctt
     1501 cagagtttac aagggagcag tttctgggcc caccctagca gcctggtact ttggacaacc
     1561 aaacagatga acgaacggag cacagcagtg ctatgaaagt tactgtaagc ctgaaataaa
     1621 ctgtattttt cttaaaaaaa aaaaaacaca caaaaaaaca caaaaaactg agtatccatt
     1681 gtcctccccc ctgtttccct gtcctgcccg ctggccctgc catgggtctg gacgataaaa
     1741 tactgggtag ccttggggcc gggtagaagc tgtaagccat gggagaggca ggagaggtct
     1801 agttgccacc ccacgtggag ttgtacgtgt gaagacactg gctgaggagg cagggctggg
     1861 tcggggcccc agggtcagtg gcagagctgg cacttgaatc caggtctcct acctctggtg
     1921 ctttgtgggg aactgggtgg aggcaggatc tgtggtaggg tattgaggga tgagggagaa
     1981 aaacgaccta attcaggtag gactggcaac ggctcccacc ctccctgggg acagggatta
     2041 ataaaaattg acatcactgt aggaatatat tttttaaaag cccacgtttt gtgaaaagat
     2101 gaattaaaaa acccaagacc cagcattcgg gattgaaagt gcccgtgatg ggagttcaag
     2161 tattgactga gctgggaggg aaggggctag agcccccaat cagacatggg caactagagt
     2221 gtggggtggg ggctcccagt ttgtcccaaa ccctctaggt cttgtctcgg gtctgggggg
     2281 attcgggggg ttcagcagtg gctcctaaag cagccaccgg tgcctcctcc atctccctgt
     2341 cctcagacag tgtgggcccc gggcagaacg tgtcccctcg gcccgcccgg ccaagcacag
     2401 ccatccagcg tcgctgtagt tcctctgtct cagggctgaa gtaccagctg aggtggctct
     2461 gggtgatctt gaagacatgc cttctgtcag gccgctcccc tgcctcgggc ggtcccacct
     2521 cgaagccaat gaggggcagg ctgcgctggg ctttcacatc ctggcgggag gagggacaga
     2581 gctggggcca ccttggggct agacctttcc cccgccccag cttctaactg gttttgcata
     2641 tgctctgtct tcagtcccct actcaggaac tcccctactc aggaaccttc cgtggctcca
     2701 gtgttatcaa caggaacatg tcagaactgg ggctaaaatg caggctggtt taaatacctg
     2761 tctcccccca cccccgcctc ttctcacaaa actgctgggc tagtctcttt agcataccaa
     2821 ataatgtttt caggcctttg tctatgctat tgcccctatc tgcatacttt tttttttttt
     2881 tttttttgag acagagtctt gccctgttgc ccaggctgga gtgcagtggc atgaacttgg
     2941 ctcactgcaa cctctacctc ccaggttcaa gcaattctcc tgcctcagct tcctgagtag
     3001 ctgggactac aggcacacgt caccacgcca ggctaatttt tgtattttta gtagagacgg
     3061 ggtttcacca tgttggccag gctggtcttg aactcctgat ctcaggtgag ccacctgcct
     3121 cggcctctca gagtgctggg attacaggcg tgagccactg cgctcggtcc catctgcata
     3181 ctcttaccca ctccaaattg gacctagcag ttccccatct ctactccttc caggaagcca
     3241 ggcccacaac tcatcctggt tttccctaca taccacaacc actccttgtc tctagccagt
     3301 ctttgtctct caagggttgg ggttctgatt tcctcttaga gataggctca ccttatcttc
     3361 caaggctcac cttatcttcc aaggccaagg agaggtcaag gactggatct ggctttgcca
     3421 ggtggctgaa aggacccgaa ggagtaggat gcatacctga ggggctccgt agatatacag
     3481 caccaagggt tcattttcag ggaccacgaa ccatgccttg tgccatcctt tgccaccctt
     3541 ctccatgtag tgcaggaagc tgcagatgac gctgttctct gcagccactg aggcctgttt
     3601 ctgtggccag agacaccggg catcaatgtt gacagaaggc ctagcctggc tcctcctagc
     3661 tttaatacct cctcagtgta gggactgcta ttcctatctc agatgaagac gctcaagctc
     3721 aggtggcagg agtgatttgt ccagtgccac ccagtgaatc agctagagct gagattcaaa
     3781 gctaggttcg tctgcctcat ttgggcaacg gctgctgcct ctacaggcca gtggaaggag
     3841 tgtgcggatc tcaggcattc tttcttcagt cagagcattc attcctcaag ccattcacac
     3901 atttaggcct catgcttttt tctgtctttc atcacatcca tttcctacac tcattgagag
     3961 gtaatctagc attgtggttt taagggggta tgtgggtggt taatgaagtc tggcttagaa
     4021 tcccagctct agatgaaaat gtattgactt ggagagcaaa gagagctgat gtgagaatta
     4081 aatgaattaa tatatgcaaa gtgcttagaa tagttcctgg cacagagtaa gtactctttt
     4141 aagtgttaaa taaataccta gatttgtttt taaaaaaa
//
