LOCUS       NM_018128               4245 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens TSR1 ribosome maturation factor (TSR1), mRNA.
ACCESSION   NM_018128
VERSION     NM_018128.5
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 4245)
  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   2  (bases 1 to 4245)
  AUTHORS   Yu,Y.J., Qiu,F. and Zhang,X.A.
  TITLE     Studies of congenital cataract-related TSR1 mutation and its
            expression in the lens
  JOURNAL   Yi Chuan 42 (2), 161-171 (2020)
   PUBMED   32102773
  REMARK    GeneRIF: a novel congenital cataract candidate gene TSR1 was
            identified by whole genome sequencing and Sanger sequencing in a
            Chinese congenital cataract family
REFERENCE   3  (bases 1 to 4245)
  AUTHORS   Sun,Y., Chen,Y., Li,Y., Li,Z., Li,C., Yu,T., Xiao,L., Yu,B.,
            Zhao,H., Tao,M., Jiang,J., Yan,J., Wang,Y., Zeng,H., Shen,X.,
            Zhou,Y., Jin,L., Song,W., Dou,K. and Wang,D.W.
  TITLE     Association of TSR1 Variants and Spontaneous Coronary Artery
            Dissection
  JOURNAL   J Am Coll Cardiol 74 (2), 167-176 (2019)
   PUBMED   31296287
  REMARK    GeneRIF: This study describes the clinical characteristics of the
            Chinese Han population with Spontaneous Coronary Artery Dissection
            and identified TSR1 as a potential causal gene, which might bring
            about a further progress in diagnosis and treatment of the
            disorder.
REFERENCE   4  (bases 1 to 4245)
  AUTHORS   Ameismeier,M., Cheng,J., Berninghausen,O. and Beckmann,R.
  TITLE     Visualizing late states of human 40S ribosomal subunit maturation
  JOURNAL   Nature 558 (7709), 249-253 (2018)
   PUBMED   29875412
REFERENCE   5  (bases 1 to 4245)
  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   6  (bases 1 to 4245)
  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
REFERENCE   7  (bases 1 to 4245)
  AUTHORS   Carron,C., O'Donohue,M.F., Choesmel,V., Faubladier,M. and
            Gleizes,P.E.
  TITLE     Analysis of two human pre-ribosomal factors, bystin and hTsr1,
            highlights differences in evolution of ribosome biogenesis between
            yeast and mammals
  JOURNAL   Nucleic Acids Res 39 (1), 280-291 (2011)
   PUBMED   20805244
  REMARK    GeneRIF: hTsr1 is involved downstream in nuclear export of the
            pre-40S particles.
REFERENCE   8  (bases 1 to 4245)
  AUTHORS   Vasan,R.S., Glazer,N.L., Felix,J.F., Lieb,W., Wild,P.S.,
            Felix,S.B., Watzinger,N., Larson,M.G., Smith,N.L., Dehghan,A.,
            Grosshennig,A., Schillert,A., Teumer,A., Schmidt,R., Kathiresan,S.,
            Lumley,T., Aulchenko,Y.S., Konig,I.R., Zeller,T., Homuth,G.,
            Struchalin,M., Aragam,J., Bis,J.C., Rivadeneira,F., Erdmann,J.,
            Schnabel,R.B., Dorr,M., Zweiker,R., Lind,L., Rodeheffer,R.J.,
            Greiser,K.H., Levy,D., Haritunians,T., Deckers,J.W., Stritzke,J.,
            Lackner,K.J., Volker,U., Ingelsson,E., Kullo,I., Haerting,J.,
            O'Donnell,C.J., Heckbert,S.R., Stricker,B.H., Ziegler,A.,
            Reffelmann,T., Redfield,M.M., Werdan,K., Mitchell,G.F., Rice,K.,
            Arnett,D.K., Hofman,A., Gottdiener,J.S., Uitterlinden,A.G.,
            Meitinger,T., Blettner,M., Friedrich,N., Wang,T.J., Psaty,B.M., van
            Duijn,C.M., Wichmann,H.E., Munzel,T.F., Kroemer,H.K.,
            Benjamin,E.J., Rotter,J.I., Witteman,J.C., Schunkert,H.,
            Schmidt,H., Volzke,H. and Blankenberg,S.
  TITLE     Genetic variants associated with cardiac structure and function: a
            meta-analysis and replication of genome-wide association data
  JOURNAL   JAMA 302 (2), 168-178 (2009)
   PUBMED   19584346
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL450226.1.
            
            On Aug 2, 2019 this sequence version replaced NM_018128.4.
            
            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##
            Transcript exon combination :: AK026565.1, SRR11853561.11829.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301364.10/ ENSP00000301364.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-127               AL450226.1         2751-2877
            128-231             AL450226.1         3068-3171
            232-451             AL450226.1         3478-3697
            452-586             AL450226.1         3814-3948
            587-1011            AL450226.1         4312-4736
            1012-1171           AL450226.1         5492-5651
            1172-1335           AL450226.1         6084-6247
            1336-1526           AL450226.1         6849-7039
            1527-1689           AL450226.1         8099-8261
            1690-1800           AL450226.1         8583-8693
            1801-1933           AL450226.1         9733-9865
            1934-2050           AL450226.1         13788-13904
            2051-2191           AL450226.1         14379-14519
            2192-2266           AL450226.1         14630-14704
            2267-4245           AL450226.1         14834-16812
FEATURES             Location/Qualifiers
     source          1..4245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..4245
                     /gene="TSR1"
                     /note="TSR1 ribosome maturation factor"
                     /db_xref="GeneID:55720"
                     /db_xref="HGNC:HGNC:25542"
                     /db_xref="MIM:611214"
     exon            1..127
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..2445
                     /gene="TSR1"
                     /codon_start=1
                     /product="pre-rRNA-processing protein TSR1 homolog"
                     /protein_id="NP_060598.3"
                     /db_xref="CCDS:CCDS32525.1"
                     /db_xref="GeneID:55720"
                     /db_xref="HGNC:HGNC:25542"
                     /db_xref="MIM:611214"
                     /translation="MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKV
                     RKELSRVDQRHRASQLRKQKKEAVLAEKRQLGGKDGPPHQVLVVPLHSRISLPEAMQL
                     LQDRDTGTVHLNELGNTQNFMLLCPRLKHRWFFTSARPGDLHVVLDMAKVADTILFLL
                     DPLEGWDSTGDYCLSCLFAQGLPTYTLAVQGISGLPLKKQIDTRKKLSKAVEKRFPHD
                     KLLLLDTQQEAGMLLRQLANQKQQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISG
                     YVRGQTLNVNRLLHIVGYGDFQMKQIDAPGDPFPLNPRGIKPQKDPDMAMEICATDAV
                     DDMEEGLKVLMKADPGRQESLQAEVIPDPMEGEQTWPTEEELSEAKDFLKESSKVVKK
                     VPKGTSSYQAEWILDGGSQSGGEGDEYEYDDMEHEDFMEEESQDESSEEEEEYETMTI
                     GESVHDDLYDKKVDEEAEAKMLEKYKQERLEEMFPDEVDTPRDVAARIRFQKYRGLKS
                     FRTSPWDPKENLPQDYARIFQFQNFTNTRKSIFKEVEEKEVEGAEVGWYVTLHVSEVP
                     VSVVECFRQGTPLIAFSLLPHEQKMSVLNMVVRRDPGNTEPVKAKEELIFHCGFRRFR
                     ASPLFSQHTAADKHKLQRFLTADMALVATVYAPITFPPASVLLFKQKSNGMHSLIATG
                     HLMSVDPDRMVIKRVVLSGHPFKIFTKMAVVRYMFFNREDVLWFKPVELRTKWGRRGH
                     IKEPLGTHGHMKCSFDGKLKSQDTVLMNLYKRVFPKWTYDPYVPEPVPWLKSEISSTV
                     PQGGME"
     exon            128..231
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            232..451
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            452..586
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            587..1011
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1171
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1335
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1526
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..1689
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1800
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1801..1933
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1934..2050
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2051..2191
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2192..2266
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..4245
                     /gene="TSR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3042..3047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSR1"
                     /note="hexamer: TATAAA"
     polyA_site      3060
                     /gene="TSR1"
                     /note="major polyA site"
     regulatory      4223..4228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSR1"
                     /note="hexamer: AATAAA"
     polyA_site      4245
                     /gene="TSR1"
ORIGIN      
        1 agtgctgact ccgtacacgc gcgctgcggc atggcggccc accgccccgg cccgctcaag
       61 cagcagaata aagctcataa aggcggacgg catcggggtc ggggatctgc acagcgggac
      121 ggcaagggcc gtctggcact gaaaacccta agcaagaagg tgagaaaaga actcagcaga
      181 gtcgaccaga ggcatcgcgc cagccagctc cgaaagcaga agaaggaggc ggttctggca
      241 gagaagagac agctgggtgg caaggatggc cctcctcatc aggtactggt ggtgcccctg
      301 cacagcagaa tttccctgcc agaggccatg cagctgcttc aagataggga cactggaaca
      361 gtacacttga atgaattggg aaacacccag aactttatgc tgctgtgccc ccgcttgaaa
      421 catcggtggt ttttcacctc agcaaggcca ggggatctgc acgttgtgtt agacatggct
      481 aaagtagctg ataccatcct gttcctcctt gatccactag aaggctggga cagcaccggt
      541 gattactgtc tttcctgcct ctttgctcag ggccttccga cctatacact agctgtccag
      601 gggatttctg gcctcccact gaagaaacaa atagatacca ggaagaagct aagtaaagca
      661 gtggagaagc gctttccgca tgacaaactc ctcttgttag acactcaaca ggaggcaggg
      721 atgctgctta ggcagttggc taaccagaag caacagcatc ttgcttttcg agatcggcgg
      781 gcctacctat ttgcccatgc tgttgatttt gttcctagtg aagagaataa cttggtgggc
      841 accttgaaaa tttcaggcta tgttcgaggg cagactctga atgtcaatag gttgctgcat
      901 atcgttggat atggtgattt ccagatgaaa cagatagatg cccccggaga ccctttccct
      961 ttaaatccta gaggaattaa accccaaaag gacccagaca tggcaatgga gatttgtgct
     1021 acggatgctg tagatgatat ggaagaaggt cttaaagtcc taatgaaggc agaccctggt
     1081 agacaggaat ccttgcaagc agaggttatc ccagatccaa tggagggaga gcaaacctgg
     1141 cccactgagg aggagctgag cgaggcaaag gatttcttga aggaaagttc taaggtggta
     1201 aagaaggtcc ccaaaggaac atccagttac caagctgaat ggattttgga tggtggcagc
     1261 caaagtggtg gggaaggaga tgaatatgaa tatgatgata tggaacatga ggattttatg
     1321 gaggaggaat ctcaggatga gagtagtgaa gaagaggaag aatatgaaac tatgactatt
     1381 ggggagtctg tgcatgatga tctgtatgat aagaaagtag atgaagaagc tgaggcaaaa
     1441 atgttggaga aatataaaca agaaagactg gaagagatgt ttccagatga agtggacacg
     1501 ccccgtgatg tggctgctcg aattcgattt cagaaataca gaggccttaa gagcttccgg
     1561 acatctccat gggatcctaa ggaaaacctt cctcaagatt atgctcgaat atttcagttt
     1621 cagaacttta ctaacactag gaaaagcatc tttaaagagg ttgaagaaaa agaggttgaa
     1681 ggagctgagg ttggctggta tgtcacactt catgtctctg aagtccccgt ctcagtggtc
     1741 gagtgcttca ggcaaggaac acccttgatt gcattttctt tactacctca tgaacagaag
     1801 atgtcagtat tgaatatggt ggtgaggcgt gaccctggca acactgaacc tgtgaaagcc
     1861 aaggaagagc tcatatttca ctgtggattc aggcgcttcc gagcctcacc tttattctct
     1921 cagcacactg cagcggacaa acataaattg cagagattcc tgactgctga catggccctg
     1981 gtggcgacag tctatgcgcc aatcactttt cctcctgcat ctgtgctgct tttcaagcaa
     2041 aaaagcaatg gaatgcacag cctcattgct acaggccatc ttatgtcagt agatccagac
     2101 agaatggtca tcaagagagt tgttctgagt ggtcatcctt tcaaaatttt tactaagatg
     2161 gcagtagtac gttacatgtt cttcaacaga gaggatgtgc tgtggtttaa accagtggaa
     2221 ctgagaacga agtggggccg gagaggacat atcaaggaac ctttaggtac ccatggccac
     2281 atgaaatgca gctttgatgg gaagctaaaa tctcaagaca cagtactgat gaacctgtat
     2341 aaacgagtct tccccaaatg gacttatgat ccatatgtac cagaaccagt accctggctg
     2401 aaaagtgaga tttcttcaac agtgcctcaa gggggcatgg agtaatggat tcaaagagat
     2461 tctgtcttac cggtgccagt cagtactcca gggatgggag gcacaagttg tgattgggca
     2521 aagtttattt tctatgtcag cctgtcagtc cactgcccca ttttgcaaga ctttttttta
     2581 gccttgacaa aatgtctcag ttaagtataa aagtttttcc actacttagt ccaaaaaaaa
     2641 ctattaaatc ttaatgaaat agccactctc cattaagaat ctgataacta agagttgaca
     2701 atactaggaa acaaaatgtc ttcagtatct aaagacactg aattcccacc atttcctttt
     2761 ctgtaaatta aacagaaaca gactgataag aagctggcct ttcagcctgc ttcacccaag
     2821 ttatggagga ggttaagtct acatttccac cactgagcac aatacaaatg ttctttactt
     2881 ctggggaaac agtttgaaaa tgttgagaca gcacagcagc cactccaaca ccagctgtag
     2941 gttcaatgag tagtttcatc ctctcccaca ccagctgggt tgcacactgt tgatatggaa
     3001 gggagtagga attagtgaaa ggggagtcta gttggtttac ctataaagtt cagatgagaa
     3061 tacgtgtcca gtttgaattt tcttatcact gtgtacacac gcttcccaaa gcttttcttt
     3121 aattctgact ctgcttctgt caagagggtt gtcattaata catctagggt accctcccat
     3181 gtcatgaagt tacctagtca ggttcccgtg ggtcacttgc tactcctaag ggaagtttct
     3241 tctgcctaag aagttacacc atgctttgct atttcttttc ttgctggagc ctcaccttaa
     3301 tttcatcctc tgtgacagtg aagatatcat ccacaaggtc cctgataata ggccaggtgt
     3361 tcaagccaat gctggatttg acaccatctg ctatggtttc tggaggataa agattgggca
     3421 tcagtttccc cttcagcttg gactggtagc agtcatctgc atttgagggt tcagcagcat
     3481 ataccttcac actaggtttc agagcctggg aagaggaata ttaagacatc ttaacaacaa
     3541 accacaacat tgcctgcatg tctaaaagaa aatatgggcc tggtgtggtg gctcacacct
     3601 gtaatcccaa cactttggga gcccgaggcg ggtggatcag ctgaggtcag gagttcaaga
     3661 ccagcctggc caacctggtg aaatgcagtg tcaactaaaa ataggaaaat cagccaggcg
     3721 tggtggcaga cccctgtaat cccagctact caagaggctg aggtaggaga atcacttgaa
     3781 cttgggaggg gtaggttgca gtgagctgag atcacaccaa aatggggtgg ggcgcagtgg
     3841 ctcacgcctg taatcccagc actttgggag gccgaggtgg gcggatcacg aggtagggag
     3901 atcaagacca tcctggctaa cacggtgaaa ccccgtctct actaaaaata caaaaaaaaa
     3961 aaacaaaaaa aaactagcca ggcatggtgg caggcacctg tagtcccagc tactcgggag
     4021 gcagaggcag gagaatggcg tgaacctggg aggtggagct tgcagtgagc caagatcgtg
     4081 ccactgcact ccagcctggg tgacagagtg agactccgtc tcaaaaaaaa aaagaaaata
     4141 ggcacaataa gtaatacatt tctgcccaag taagagcctt cccttttgtg gatgtaatga
     4201 aaatatcttc aagcacttta taaataaatt atatgtctga tacta
//
