LOCUS       NM_058163               4076 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens TSR2 ribosome maturation factor (TSR2), transcript
            variant 1, mRNA.
ACCESSION   NM_058163
VERSION     NM_058163.3
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 4076)
  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 4076)
  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 4076)
  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 4076)
  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 4076)
  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 4076)
  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 4076)
  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 4076)
  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 4076)
  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 BI488794.1, BC007699.1,
            Z85987.13 and AA251347.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_058163.2.
            
            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 (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.7382.1,
                                           SRR1803611.167325.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375151.5/ ENSP00000364293.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                BI488794.1         13-28
            17-1341             BC007699.1         1-1325
            1342-3708           Z85987.13          59872-62238         c
            3709-4076           AA251347.1         13-380              c
FEATURES             Location/Qualifiers
     source          1..4076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..4076
                     /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"
     CDS             19..594
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="isoform a is encoded by transcript variant 1; 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
                     a"
                     /protein_id="NP_477511.1"
                     /db_xref="CCDS:CCDS14358.1"
                     /db_xref="GeneID:90121"
                     /db_xref="HGNC:HGNC:25455"
                     /db_xref="MIM:300945"
                     /translation="MAGAAEDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAK
                     WLGGAVEDYFMRNADLELDEVEDFLGELLTNEFDTVVEDGSLPQVSQQLQTMFHHFQR
                     GDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDGV
                     CPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK"
     exon            100..190
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     exon            191..282
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     exon            283..459
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     exon            460..4076
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1322..1327
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="hexamer: AATAAT"
     polyA_site      1341
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="major polyA site"
     polyA_site      1565
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
     regulatory      4047..4052
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSR2"
                     /gene_synonym="DBA14; DT1P1A10; WGG1"
                     /note="hexamer: AATAAA"
     polyA_site      4076
                     /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 ctgacttgga gctagatgag gtggaagact tccttggaga gctgttgacc
      241 aacgagtttg atacagttgt ggaagacggg agtctgcccc aggtgagcca gcaactgcag
      301 accatgttcc accacttcca gaggggtgat ggggctgctc tgagggagat ggcctcctgc
      361 atcactcaga gaaaatgcaa ggtcacagcc actgcactta agacagctag agagactgat
      421 gaggatgaag atgatgtgga cagtgtggaa gagatggagg tcacagctac gaatgatggg
      481 gctgctacag atggggtctg cccccagcct gaaccctctg atccagacgc tcagactatt
      541 aaggaagagg atatagtgga agatggctgg accattgtcc ggagaaaaaa atgagtgggg
      601 atgattggaa atggctttgg gcccttattt gctgttctaa gagttgtctg taggggtttt
      661 ttttttgagg attgcagacc tgtggactgg ttaccccatc tccaccctct cccctgttcc
      721 tctgtctggc tccctccagg gcaaggaaaa cctagggtcc ttggtcttgg gggtgggggg
      781 accttttcca gcatattccc ctgggccttt agttaacatc cgagtgacga agccgggttc
      841 cccagtacag tgtcttttgg gtgcggtcat tgtgaggaag gggatgagtg agtgtgggtg
      901 tggctggagg aggagctaga tgccggtgga cagtgggcag gtggatttgg ggaggagagg
      961 atcagcagca gcagcagtac tcagtgatag ggggctggct gggtcaggaa tggtgagatg
     1021 aacatgcaag tggaagagag aatagttgaa aatgtgaatg aaagtagctc tggagcctct
     1081 cccttacccc accccacaca cacgcaacag ctctgtaccc ctgcccagaa cttggaacct
     1141 cccaggaatg ctgccttcct tcagcccagc ctccagtcct gggttccctc aggaattcga
     1201 agaccttggc taggtggtga gcttggaaga gctgggcttt gttttctgtc tcctctaacc
     1261 tctttcctta ctccttatcc catcccattt gagttcaggg gtgaggctta agatcttaat
     1321 aaataatacc ttactgctta atctgtggct tgacctgtga gtagtagcct tagaatcagc
     1381 cttctgggag ctcagcttca gagtttacaa gggagcagtt tctgggccca ccctagcagc
     1441 ctggtacttt ggacaaccaa acagatgaac gaacggagca cagcagtgct atgaaagtta
     1501 ctgtaagcct gaaataaact gtatttttct taaaaaaaaa aaaacacaca aaaaaacaca
     1561 aaaaactgag tatccattgt cctcccccct gtttccctgt cctgcccgct ggccctgcca
     1621 tgggtctgga cgataaaata ctgggtagcc ttggggccgg gtagaagctg taagccatgg
     1681 gagaggcagg agaggtctag ttgccacccc acgtggagtt gtacgtgtga agacactggc
     1741 tgaggaggca gggctgggtc ggggccccag ggtcagtggc agagctggca cttgaatcca
     1801 ggtctcctac ctctggtgct ttgtggggaa ctgggtggag gcaggatctg tggtagggta
     1861 ttgagggatg agggagaaaa acgacctaat tcaggtagga ctggcaacgg ctcccaccct
     1921 ccctggggac agggattaat aaaaattgac atcactgtag gaatatattt tttaaaagcc
     1981 cacgttttgt gaaaagatga attaaaaaac ccaagaccca gcattcggga ttgaaagtgc
     2041 ccgtgatggg agttcaagta ttgactgagc tgggagggaa ggggctagag cccccaatca
     2101 gacatgggca actagagtgt ggggtggggg ctcccagttt gtcccaaacc ctctaggtct
     2161 tgtctcgggt ctggggggat tcggggggtt cagcagtggc tcctaaagca gccaccggtg
     2221 cctcctccat ctccctgtcc tcagacagtg tgggccccgg gcagaacgtg tcccctcggc
     2281 ccgcccggcc aagcacagcc atccagcgtc gctgtagttc ctctgtctca gggctgaagt
     2341 accagctgag gtggctctgg gtgatcttga agacatgcct tctgtcaggc cgctcccctg
     2401 cctcgggcgg tcccacctcg aagccaatga ggggcaggct gcgctgggct ttcacatcct
     2461 ggcgggagga gggacagagc tggggccacc ttggggctag acctttcccc cgccccagct
     2521 tctaactggt tttgcatatg ctctgtcttc agtcccctac tcaggaactc ccctactcag
     2581 gaaccttccg tggctccagt gttatcaaca ggaacatgtc agaactgggg ctaaaatgca
     2641 ggctggttta aatacctgtc tccccccacc cccgcctctt ctcacaaaac tgctgggcta
     2701 gtctctttag cataccaaat aatgttttca ggcctttgtc tatgctattg cccctatctg
     2761 catacttttt tttttttttt tttttgagac agagtcttgc cctgttgccc aggctggagt
     2821 gcagtggcat gaacttggct cactgcaacc tctacctccc aggttcaagc aattctcctg
     2881 cctcagcttc ctgagtagct gggactacag gcacacgtca ccacgccagg ctaatttttg
     2941 tatttttagt agagacgggg tttcaccatg ttggccaggc tggtcttgaa ctcctgatct
     3001 caggtgagcc acctgcctcg gcctctcaga gtgctgggat tacaggcgtg agccactgcg
     3061 ctcggtccca tctgcatact cttacccact ccaaattgga cctagcagtt ccccatctct
     3121 actccttcca ggaagccagg cccacaactc atcctggttt tccctacata ccacaaccac
     3181 tccttgtctc tagccagtct ttgtctctca agggttgggg ttctgatttc ctcttagaga
     3241 taggctcacc ttatcttcca aggctcacct tatcttccaa ggccaaggag aggtcaagga
     3301 ctggatctgg ctttgccagg tggctgaaag gacccgaagg agtaggatgc atacctgagg
     3361 ggctccgtag atatacagca ccaagggttc attttcaggg accacgaacc atgccttgtg
     3421 ccatcctttg ccacccttct ccatgtagtg caggaagctg cagatgacgc tgttctctgc
     3481 agccactgag gcctgtttct gtggccagag acaccgggca tcaatgttga cagaaggcct
     3541 agcctggctc ctcctagctt taatacctcc tcagtgtagg gactgctatt cctatctcag
     3601 atgaagacgc tcaagctcag gtggcaggag tgatttgtcc agtgccaccc agtgaatcag
     3661 ctagagctga gattcaaagc taggttcgtc tgcctcattt gggcaacggc tgctgcctct
     3721 acaggccagt ggaaggagtg tgcggatctc aggcattctt tcttcagtca gagcattcat
     3781 tcctcaagcc attcacacat ttaggcctca tgcttttttc tgtctttcat cacatccatt
     3841 tcctacactc attgagaggt aatctagcat tgtggtttta agggggtatg tgggtggtta
     3901 atgaagtctg gcttagaatc ccagctctag atgaaaatgt attgacttgg agagcaaaga
     3961 gagctgatgt gagaattaaa tgaattaata tatgcaaagt gcttagaata gttcctggca
     4021 cagagtaagt actcttttaa gtgttaaata aatacctaga tttgttttta aaaaaa
//
