LOCUS       NM_011552               4571 bp    mRNA    linear   ROD 17-SEP-2024
DEFINITION  Mus musculus treacle ribosome biogenesis factor 1 (Tcof1),
            transcript variant 2, mRNA.
ACCESSION   NM_011552
VERSION     NM_011552.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4571)
  AUTHORS   Qu,Y., Meng,B., Cai,S., Yang,B., He,Y., Fu,C., Li,X., Li,P.,
            Cao,Z., Mao,X., Teng,W. and Shi,S.
  TITLE     Apoptotic metabolites ameliorate bone aging phenotypes via
            TCOF1/FLVCR1-mediated mitochondrial homeostasis
  JOURNAL   J Nanobiotechnology 22 (1), 549 (2024)
   PUBMED   39237990
  REMARK    GeneRIF: Apoptotic metabolites ameliorate bone aging phenotypes via
            TCOF1/FLVCR1-mediated mitochondrial homeostasis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4571)
  AUTHORS   Dash,S., Lamb,M.C., Lange,J.J., McKinney,M.C., Tsuchiya,D., Guo,F.,
            Zhao,X., Corbin,T.J., Kirkman,M., Delventhal,K., Moore,E.L.,
            McKinney,S., Shiang,R. and Trainor,P.A.
  TITLE     rRNA transcription is integral to phase separation and maintenance
            of nucleolar structure
  JOURNAL   PLoS Genet 19 (8), e1010854 (2023)
   PUBMED   37639467
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4571)
  AUTHORS   Falcon,K.T., Watt,K.E.N., Dash,S., Zhao,R., Sakai,D., Moore,E.L.,
            Fitriasari,S., Childers,M., Sardiu,M.E., Swanson,S., Tsuchiya,D.,
            Unruh,J., Bugarinovic,G., Li,L., Shiang,R., Achilleos,A., Dixon,J.,
            Dixon,M.J. and Trainor,P.A.
  TITLE     Dynamic regulation and requirement for ribosomal RNA transcription
            during mammalian development
  JOURNAL   Proc Natl Acad Sci U S A 119 (31), e2116974119 (2022)
   PUBMED   35881792
REFERENCE   4  (bases 1 to 4571)
  AUTHORS   Wen,Z., Finn,R., Gao,X., Li,L., Hebert,A., Ranheim,E.A., Zhou,Y.,
            Yun,G., Roose,J.P., Coon,J.J., Shiang,R., Wen,R., Yu,M., Wang,D.
            and Zhang,J.
  TITLE     Tcof1 haploinsufficiency promotes early T cell precursor-like
            leukemia in NrasQ61R/+ mice
  JOURNAL   Leukemia 36 (4), 1167-1170 (2022)
   PUBMED   35082403
  REMARK    GeneRIF: Tcof1 haploinsufficiency promotes early T cell
            precursor-like leukemia in Nras(Q61R/+) mice.
REFERENCE   5  (bases 1 to 4571)
  AUTHORS   Sakai,D. and Trainor,P.A.
  TITLE     Face off against ROS: Tcof1/Treacle safeguards neuroepithelial
            cells and progenitor neural crest cells from oxidative stress
            during craniofacial development
  JOURNAL   Dev Growth Differ 58 (7), 577-585 (2016)
   PUBMED   27481486
  REMARK    GeneRIF: Role of Tcof1 in normal embryonic development, the
            correlation between genetic and environmental factors on the
            severity of craniofacial abnormalities, and the prospect for
            prenatal prevention of craniofacial anomalies. [review]
            Review article
REFERENCE   6  (bases 1 to 4571)
  AUTHORS   Pan,Y., Decker,W.K., Huq,A.H. and Craigen,W.J.
  TITLE     Retrotransposition of glycerol kinase-related genes from the X
            chromosome to autosomes: functional and evolutionary aspects
  JOURNAL   Genomics 59 (3), 282-290 (1999)
   PUBMED   10444329
REFERENCE   7  (bases 1 to 4571)
  AUTHORS   Paznekas,W.A., Zhang,N., Gridley,T. and Jabs,E.W.
  TITLE     Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar
            phosphoproteins, and maps to chromosome 18
  JOURNAL   Biochem Biophys Res Commun 238 (1), 1-6 (1997)
   PUBMED   9299440
REFERENCE   8  (bases 1 to 4571)
  AUTHORS   Dixon,J., Hovanes,K., Shiang,R. and Dixon,M.J.
  TITLE     Sequence analysis, identification of evolutionary conserved motifs
            and expression analysis of murine tcof1 provide further evidence
            for a potential function for the gene and its human homologue,
            TCOF1
  JOURNAL   Hum Mol Genet 6 (5), 727-737 (1997)
   PUBMED   9158147
REFERENCE   9  (bases 1 to 4571)
  AUTHORS   Wise,C.A., Chiang,L.C., Paznekas,W.A., Sharma,M., Musy,M.M.,
            Ashley,J.A., Lovett,M. and Jabs,E.W.
  TITLE     TCOF1 gene encodes a putative nucleolar phosphoprotein that
            exhibits mutations in Treacher Collins Syndrome throughout its
            coding region
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3110-3115 (1997)
   PUBMED   9096354
REFERENCE   10 (bases 1 to 4571)
  AUTHORS   Jabs,E.W., Li,X., Lovett,M., Yamaoka,L.H., Taylor,E., Speer,M.C.,
            Coss,C., Cadle,R., Hall,B., Brown,K. et al.
  TITLE     Genetic and physical mapping of the Treacher Collins syndrome locus
            with respect to loci in the chromosome 5q3 region
  JOURNAL   Genomics 18 (1), 7-13 (1993)
   PUBMED   8276417
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC139759.4 and BC057342.1.
            
            On Nov 17, 2010 this sequence version replaced NM_011552.2.
            
            Transcript Variant: This variant (2) lacks an in-frame alternate
            exon in the 3' coding region, compared to variant 1, and encodes a
            shorter isoform (2), compared to isoform 1.
            
            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.
            
            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 :: SRR9219383.42000.1,
                                           SRR7345562.1537133.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AC139759.4         133873-133919       c
            48-2623             BC057342.1         1-2576
            2624-2796           BC057342.1         2685-2857
            2797-2797           AC139759.4         107772-107772       c
            2798-4571           BC057342.1         2858-4631
FEATURES             Location/Qualifiers
     source          1..4571
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 34.41 cM"
     gene            1..4571
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /note="treacle ribosome biogenesis factor 1"
                     /db_xref="GeneID:21453"
                     /db_xref="MGI:MGI:892003"
     exon            1..214
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..4069
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /note="isoform 2 is encoded by transcript variant 2;
                     treacher Collins syndrome protein homolog; Treacher
                     Collins Franceschetti syndrome 1, homolog"
                     /codon_start=1
                     /product="treacle protein isoform 2"
                     /protein_id="NP_035682.1"
                     /db_xref="CCDS:CCDS37836.1"
                     /db_xref="GeneID:21453"
                     /db_xref="MGI:MGI:892003"
                     /translation="MAEARKRRELLPLIYHHLLQAGYVRAAREVKEQSGQKSFLTQPV
                     TLLDIYTHWQQTSELGQKQKAEDDETLQAKKSRVSDPVSSSESSDQEKEEEAATERAK
                     ATPRPTPVNSATAALPSKVKEKGKTKTANKTVNSVSHPGSGKTVVHLLSGKSPKKSAE
                     PLANTVLASETEEEGNAQALGPTAKSGTVSAGQGSSSSEDSSISSDETDVEVKSPAKP
                     AQAKASAAPAKDPPARTAPGPTKLGNVAPTPAKPARAAAAAAAAAVAAAAAAAAEESE
                     SSEEDSDSEDEAPAGLPSQVKASGKGPHVRADSVSAKGISGKGPILATPGKTGPAATQ
                     AKAERPEKDSETSSEDDSDSEDEMPVTVNTPQARTSGKSPRARGTSAPAKESSQKGAP
                     AVTPGKARPVAAQAGKPEAKSSEESESDSGETPAAATLTTSPAKVKPLGKSSQVRPVS
                     TVTPGSSGKGANLPCPGKVGSAALRVQMVKKEDVSESSSAELDSDGPGSPAKAKASLA
                     LPQKVRPVATQVKTDRGKGHSGSSEESSDSEEEAAPAASAAQAKPALEKQMKASSRKG
                     TPASATGASTSSHCKAGAVTSSASLSSPALAKGTQRSDVDSSSESESEGAAPSTPRVQ
                     GKSGGKGLQGKAALGQGVAPVHTQKTGPSVKAMAQEDSESLEEDSSSEEEDETPAQAT
                     PLGRLPQAKANPPPTKTPPASASGKAVAAPTKGKPPVPNSTVSARGQRSVPAAGKAGA
                     PATQAQKGPVAGTGEDSESSSKEESDSEEETPAQIKPVGKTSQVRAASAPAKESPKKG
                     AHPGTPGKTGSSATQAQPGKTEDSDSSSEESDSDTEMPSAQAIKSPPVSVNRNSSPAV
                     PAPTPEGVQAVNTTKKASGTTAQSSSSESEDGDEDLIPATQPSTYALRTSVTTPAALS
                     RAASQPSKSEQSSRMPKGKKAKAAASAQTSSAVETLPMMPPQSAPIQPKATNKLGKSK
                     LPEKQQLAPGYPKAPRSSEDSSDTSSEDEEDAKRPQMPKSAHRLDPDPSQKETVVEET
                     PTESSEDEMVAPSQSLLSGYMTPGLTVANSQASKATPRPDSNSLASSAPATKDNPDGK
                     QKSKSQHAADTALPKTGRKEASSGSTPQKPKKLKKSTSSSPAPTQTLPNSITQRLLEQ
                     AWPLSEAQVQASVVKVLTELLEQERLKATEAIKESGKKSQKRKLSGDLEAGAPKNKKK
                     KEQPVPRASAVSPEKAPMTSKAKSKLDKGSAGGKGKGSPGPQGAKEKPDGELLGIKLE
                     SGEQSDPKSKSKKKKSLKKKKDKEKKEKKKGKKSLAKDSASPIQKKKKKKKKSAEPAV
                     "
     exon            215..270
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            271..416
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            417..478
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            479..665
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            666..739
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            740..991
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1204
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1414
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..1612
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1756
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            1757..1978
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            1979..2146
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            2147..2248
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2428
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            2429..2623
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            2624..2810
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            2811..2932
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            2933..3155
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            3156..3238
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            3239..3419
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            3420..3947
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            3948..4042
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            4043..4088
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
     exon            4089..4522
                     /gene="Tcof1"
                     /gene_synonym="treacle"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggtgacgcgg agccggaagt gaggaacatg aggttctagg gcgcgaggga agcggctagc
       61 gggggcgagg gggcgtgcac gtgaatcccc tggccagatc tctggcatgg ccgaggccag
      121 gaagcggcgg gagctgcttc ccctcattta ccatcatctg ttgcaagcag gctacgtccg
      181 cgcggcgcgg gaagtaaagg agcagagcgg ccagaagagt ttcctgactc agcccgtcac
      241 ccttctggac atctatacac actggcaaca gacctcagag cttggccaga agcagaaggc
      301 agaggatgat gagacccttc aggctaagaa gtctcgagtg tcggatcctg ttagcagctc
      361 agagagctcg gatcaggaga aggaagagga ggcagcaacc gaaagggcca aagccacccc
      421 aagaccgaca cctgtcaatt ctgcaaccgc agctttgcca tcaaaagtaa aagaaaaggg
      481 aaagaccaag acagccaaca agacggtgaa ctctgtgtcg caccctgggt ccggaaagac
      541 ggtggtccac ctgctctctg ggaagtcacc caaaaagtca gcagagccct tggcaaacac
      601 tgtcttggcc tcagaaactg aggaggaggg caatgcccaa gccctcggac ccactgccaa
      661 gtctggaacg gtgtcagcgg gccaaggcag cagttccagt gaagattcct ccatctcaag
      721 cgatgagaca gatgtcgagg tgaaatctcc agcaaaacca gcccaggcca aagcttcagc
      781 agcccctgcc aaggatcctc cagcaagaac agccccaggc cctaccaagt tagggaatgt
      841 ggcgcccaca cctgctaaac cagccagggc ggcagcggca gctgctgctg ctgctgtggc
      901 tgctgctgct gctgcagcag cagaagagtc tgagagcagt gaggaggact cagacagtga
      961 ggacgaggcc cctgctggtc tgcccagcca ggtaaaagcc tctggaaaag gtccccatgt
     1021 cagagccgac tcggtgtctg ccaaggggat ctctgggaaa gggcccatct tagcaacccc
     1081 agggaagact gggcctgcag ccacccaggc caaggcagaa aggccagaga aggactcgga
     1141 aaccagcagt gaggacgatt ctgatagtga ggatgaaatg ccagtcactg tgaatactcc
     1201 tcaggcaagg acttctggga agagccctcg ggccagaggt acctcagccc ccgccaagga
     1261 gtcatcccag aaaggggctc ctgcagtcac ccctggaaag gcaaggcctg tggcagccca
     1321 ggcagggaaa ccagaagcca agagcagtga ggagtcagag agtgacagtg gggagacacc
     1381 agctgctgcg actctgacca cgagtcctgc caaggtgaaa cctttgggga agagctccca
     1441 ggtcagacct gtttccaccg tcaccccggg gtcatcggga aaaggtgcca acctgccctg
     1501 ccctgggaag gtggggtcag cagctctcag ggtccaaatg gtaaagaaag aagatgtctc
     1561 ggagagcagc agtgcagagc tggacagtga cgggcctggg agcccagcca aggcaaaggc
     1621 ctcccttgcg ctccctcaga aggtgaggcc tgtggccacc caggtcaaga ctgacagggg
     1681 caaaggccac tcagggagca gtgaggagtc atctgacagc gaagaggagg cagcaccagc
     1741 agcctctgct gctcaggcta agccagctct ggaaaagcag atgaaagctt cctctaggaa
     1801 aggcacgcct gcatccgcaa caggagcgag cacctcgtcc cattgtaagg caggagcggt
     1861 gacctcttca gccagcctgt catccccagc tctggccaag ggcacccaga ggtcagatgt
     1921 ggactcttcc agtgagtctg agtcagaagg agctgctccc agcaccccca gggtacaggg
     1981 gaagtctggg ggcaagggcc tccaagggaa agctgccttg gggcaagggg tggccccagt
     2041 gcacactcag aagacagggc cttcggtcaa agctatggct caggaagact cagagagcct
     2101 cgaggaggac tccagcagtg aggaagagga tgagacccca gcacaggcca cgcccttggg
     2161 gagacttcct caggccaaag ccaacccacc tcccactaag acacctccag cgtctgcatc
     2221 tggaaaagct gtggctgctc caaccaaggg aaaaccacct gttccgaaca gcaccgtctc
     2281 tgcaaggggc cagcggtctg tgccagccgc gggaaaagca ggggccccag caacccaagc
     2341 ccagaagggt cccgtggctg gcacagggga ggactcagag agcagcagta aagaggagtc
     2401 tgacagtgaa gaagagacgc cagcccagat aaaacctgtg gggaagacct ctcaggtcag
     2461 agctgcctca gcccctgcca aggagtctcc taaaaaagga gcccatccag gaacccccgg
     2521 caagacggga tcttcagcta cccaggccca gccagggaag acagaggact cagacagcag
     2581 tagtgaagag tctgacagtg acacagagat gccatcagcc caggcgatta aatcccctcc
     2641 agtttctgtc aaccgtaaca gtagtccagc tgtcccagct cctaccccag aaggagtcca
     2701 ggctgtgaac accacaaaga aggcctcagg caccactgcc cagagctcct cctctgagag
     2761 tgaggacggg gacgaggact tgattcctgc cacacaaccc tccacctatg ctctcagaac
     2821 cagtgtgacg acgcccgcag ccctctcacg agcagcttcc caacccagca agagtgagca
     2881 gtctagccgg atgccaaaag gcaagaaagc aaaggcggcg gcgtccgctc agaccagcag
     2941 tgccgtggaa acactcccca tgatgcctcc ccagagcgca cccatccagc ccaaagccac
     3001 caacaagctc gggaaatcca agctccctga gaagcagcag cttgccccag gctaccccaa
     3061 ggcccccagg agctcggagg acagcagtga cacttcttcc gaggacgagg aggatgccaa
     3121 gagaccccag atgcccaagt cggcccacag gctggatcca gacccttccc agaaggaaac
     3181 tgtggtagag gagaccccta cagaatccag cgaagatgag atggtggccc cctcacagtc
     3241 tctcctctca ggttacatga ctcccggctt gactgtggct aattcccagg cttcaaaagc
     3301 tactcctagg ccagactcca actccttagc ttcttctgcc ccggccacca aagacaaccc
     3361 ggatggcaag cagaagtcaa aatcccaaca cgcagcagac accgcactcc ctaaaaccgg
     3421 taggaaagag gcctcctcgg gctccacgcc tcagaagccc aagaagctca agaagagcac
     3481 ctcaagctcg ccggccccca cacagacact gccgaacagc atcacccagc gcctcctgga
     3541 gcaggcctgg cccctgagcg aggcgcaggt gcaggcctct gtggtgaagg tcctgacaga
     3601 gcttctggag caggaacggc tgaaggccac agaggccatc aaggagagtg ggaagaagag
     3661 ccagaagcgg aagttatcag gggacctaga agctggggcc ccaaagaaca agaagaagaa
     3721 ggagcagcca gtgcccaggg caagcgctgt ttccccagaa aaggctccca tgacttccaa
     3781 ggcaaaatca aagcttgaca aagggagtgc tggtggcaag gggaaggggt ctcctggccc
     3841 ccaaggagcc aaggagaagc ccgacggcga gttgctgggg ataaagcttg agagtggcga
     3901 gcagagcgac ccgaagagca agtcgaaaaa gaagaaatcc ctcaagaaaa aaaaagacaa
     3961 ggagaaaaag gaaaagaaga aaggaaaaaa gtccctggcc aaagactctg cctcgccgat
     4021 ccagaagaag aaaaagaaga agaagaagtc agccgagcct gccgtgtgag gcccaacgca
     4081 tagagcagaa tcttggcaga gtgtgaccat ccatccccag gcctctgacc tctggccagc
     4141 gtgaattggg cctggacttt ttaactttcc ctccctcagc agaagatgat ggctggcgcg
     4201 tgctggccaa accagtgaac ccgcagggaa gctgcagtac caggaggaag cgaggtggga
     4261 cacacacccc ctctgagtgc tacgtgacat gtgtatagta tatctatttt tttaagcgac
     4321 ttgcctctct cccttcaaat ccaccgtgcc cagaggcctc cggacctccc tccatgttat
     4381 ctgcagagcc agcaaggtcc cgcgtgtggt tcatcccaca ccctggaccc ctggcgcagc
     4441 ctgaagcctt gccccatcaa tttttccagc tattttggtt ttgtttttta aagaactcag
     4501 aataaaagac tttaaatata aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     4561 aaaaaaaaaa a
//
