LOCUS       NM_011656               2636 bp    mRNA    linear   ROD 01-AUG-2024
DEFINITION  Mus musculus tuftelin 1 (Tuft1), transcript variant 1, mRNA.
ACCESSION   NM_011656
VERSION     NM_011656.3
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 2636)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2636)
  AUTHORS   Verkerk,A.J.M.H., Andrei,D., Vermeer,M.C.S.C., Kramer,D.,
            Schouten,M., Arp,P., Verlouw,J.A.M., Pas,H.H., Meijer,H.J., van der
            Molen,M., Oberdorf-Maass,S., Nijenhuis,M., Romero-Herrera,P.H.,
            Hoes,M.F., Bremer,J., Slotman,J.A., van den Akker,P.C.,
            Diercks,G.F.H., Giepmans,B.N.G., Stoop,H., Saris,J.J., van den
            Ouweland,A.M.W., Willemsen,R., Hublin,J.J., Dean,M.C.,
            Hoogeboom,A.J.M., Sillje,H.H.W., Uitterlinden,A.G., van der Meer,P.
            and Bolling,M.C.
  TITLE     Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin
            Fragility, Woolly Hair, and Palmoplantar Keratoderma
  JOURNAL   J Invest Dermatol 144 (2), 284-295 (2024)
   PUBMED   37716648
  REMARK    GeneRIF: Disruption of TUFT1, a Desmosome-Associated Protein,
            Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
REFERENCE   3  (bases 1 to 2636)
  AUTHORS   Niu,C., Xu,K., Hu,Y., Jia,Y., Yang,Y., Pan,X., Wan,R., Lian,H.,
            Wang,Q., Yang,J., Li,Y., Rosas,I., Wang,L. and Yu,G.
  TITLE     Tuftelin1 drives experimental pulmonary fibrosis progression by
            facilitating stress fiber assembly
  JOURNAL   Respir Res 24 (1), 318 (2023)
   PUBMED   38105232
  REMARK    GeneRIF: Tuftelin1 drives experimental pulmonary fibrosis
            progression by facilitating stress fiber assembly.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2636)
  AUTHORS   Jackson,A., Moss,C., Chandler,K.E., Balboa,P.L., Bageta,M.L.,
            Petrof,G., Martinez,A.E., Liu,L., Guy,A., Mellerio,J.E.,
            Lee,J.Y.W., Ogboli,M., Ryan,G., McGrath,J.A. and Banka,S.
  CONSRTM   Genomics England Research Consortium
  TITLE     Biallelic TUFT1 variants cause woolly hair, superficial skin
            fragility and desmosomal defects
  JOURNAL   Br J Dermatol 188 (1), 75-83 (2023)
   PUBMED   36689522
  REMARK    GeneRIF: Biallelic TUFT1 variants cause woolly hair, superficial
            skin fragility and desmosomal defects.
REFERENCE   5  (bases 1 to 2636)
  AUTHORS   Dong,C., Lamichhane,B., Yamazaki,H., Vasquez,B., Wang,J., Zhang,Y.,
            Feng,J.Q., Margolis,H.C., Beniash,E. and Wang,X.
  TITLE     The phosphorylation of serine55 in enamelin is essential for murine
            amelogenesis
  JOURNAL   Matrix Biol 111, 245-263 (2022)
   PUBMED   35820561
  REMARK    GeneRIF: The phosphorylation of serine(55) in enamelin is essential
            for murine amelogenesis.
REFERENCE   6  (bases 1 to 2636)
  AUTHORS   Bouwman,P., Gollner,H., Elsasser,H.P., Eckhoff,G., Karis,A.,
            Grosveld,F., Philipsen,S. and Suske,G.
  TITLE     Transcription factor Sp3 is essential for post-natal survival and
            late tooth development
  JOURNAL   EMBO J 19 (4), 655-661 (2000)
   PUBMED   10675334
REFERENCE   7  (bases 1 to 2636)
  AUTHORS   Zhou,H.M., Nichols,A., Wohlwend,A., Bolon,I. and Vassalli,J.D.
  TITLE     Extracellular proteolysis alters tooth development in transgenic
            mice expressing urokinase-type plasminogen activator in the enamel
            organ
  JOURNAL   Development 126 (5), 903-912 (1999)
   PUBMED   9927592
REFERENCE   8  (bases 1 to 2636)
  AUTHORS   MacDougall,M., Simmons,D., Dodds,A., Knight,C., Luan,X.,
            Zeichner-David,M., Zhang,C., Ryu,O.H., Qian,Q., Simmer,J.P. and
            Hu,C.C.
  TITLE     Cloning, characterization, and tissue expression pattern of mouse
            tuftelin cDNA
  JOURNAL   J Dent Res 77 (12), 1970-1978 (1998)
   PUBMED   9839784
REFERENCE   9  (bases 1 to 2636)
  AUTHORS   Diekwisch,T.G., Ware,J., Fincham,A.G. and Zeichner-David,M.
  TITLE     Immunohistochemical similarities and differences between amelogenin
            and tuftelin gene products during tooth development
  JOURNAL   J Histochem Cytochem 45 (6), 859-866 (1997)
   PUBMED   9199671
REFERENCE   10 (bases 1 to 2636)
  AUTHORS   Zeichner-David,M., Vo,H., Tan,H., Diekwisch,T., Berman,B.,
            Thiemann,F., Alcocer,M.D., Hsu,P., Wang,T., Eyna,J., Caton,J.,
            Slavkin,H.C. and MacDougall,M.
  TITLE     Timing of the expression of enamel gene products during mouse tooth
            development
  JOURNAL   Int J Dev Biol 41 (1), 27-38 (1997)
   PUBMED   9074935
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC127252.3 and AK132488.1.
            
            On Jun 17, 2014 this sequence version replaced NM_011656.2.
            
            Summary: Tuftelin is an acidic protein that is thought to play a
            role in dental enamel mineralization and is implicated in caries
            susceptibility. It is also thought to be involved with adaptation
            to hypoxia, mesenchymal stem cell function, and neurotrophin nerve
            growth factor mediated neuronal differentiation. [provided by
            RefSeq, Aug 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AK132488.1, AF047704.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN01164134
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-69                AC127252.3         170220-170288       c
            70-2177             AK132488.1         2-2109
            2178-2178           AC127252.3         124627-124627       c
            2179-2629           AK132488.1         2111-2561
            2630-2636           AC127252.3         124169-124175       c
FEATURES             Location/Qualifiers
     source          1..2636
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 40.74 cM"
     gene            1..2636
                     /gene="Tuft1"
                     /note="tuftelin 1"
                     /db_xref="GeneID:22156"
                     /db_xref="MGI:MGI:109572"
     exon            1..148
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            149..223
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            224..325
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            326..412
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            413..502
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            503..568
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            569..682
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            683..811
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            812..906
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1012
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1096
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1197
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..2636
                     /gene="Tuft1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2612..2617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tuft1"
                     /note="hexamer: AATAAA"
     polyA_site      2630
                     /gene="Tuft1"
                     /note="major polyA site"
ORIGIN      
        1 gggggcggtt ccgcgcgcgc acccgcctgc cggcctagtt tccccgggac ctcggagttg
       61 aggaagctca tacgacctcc gcgtgaagat gaacgggacg cggaactggt gtaccttggt
      121 ggacgtgcac ccggagagcc agaccgcggg cagcgtggac attctcaggc tgacgctcca
      181 gagtgaactg acaggagatg aacttgagca catagcccag aaggcgggca ggaagaccta
      241 tgccatgatg cctggccact cctcaggtca ttctctggct tcagaactgg tggagtccca
      301 tgatggccat gaagagatca ttaaggttta cttgaaaggg aggtctgggg acaagatgac
      361 ccatgagaag aacatcgacc agctgaagag tgaggtccag tacatccagg aggccaggaa
      421 ctgcctgcag aagctccggg aggatataag tagcaagctt gacaggagtc caggagaccc
      481 tctgcgtcag caggagatac aggtggtact agaaaagcca aatggcttta gtcagagtcc
      541 catgactctc tacagtagcc cacctgaggt ggaccctagc atgagtgaag atgttgagag
      601 cttgaagaag actgtgcagg agttgcttgt caagctgcgg gaggctgagc ggcgacacca
      661 gtcagaccgt gtggcctttg aggtcacact cagccgttat cagcgagaag cagaacagag
      721 taatgtggcc cttcagagag aggaggacag agtggagcag aaagcggcag aaatcgagga
      781 gctacagagg cgcttgctgg ggatggaggc ggagcatcag gccttactgg tgaaagtcag
      841 ggaaggagag atggccctag aagagcttcg gatcaagaac gctgactgtc aaacagaaag
      901 agaaaagtct gctgctctag aaaaggaagt ggctgggttt cgggagaaga tccaccactt
      961 ggatgacatg ctgaagagcc agcagcggaa agttcggcag atgatagagc agctccagaa
     1021 ttcaaaagct gtgatccagt caaaggatgc caccattcaa gagctcaagg agaaaattgc
     1081 ctatctggag gctgagaact tagagatgca cgaccgcatg gagcatctaa tagagaagca
     1141 ggtcagccac ggaaacttca gcacacaggc ccgtgccaag acagagaacc tgggcagtgt
     1201 caggatatcg aagcccccca gccccaagcc tatgcctctc atccgggtgg tggaaacctg
     1261 agctgccagg agatggacgt tgccgttgca gttgcctcag tcctgcagag aagccctcct
     1321 cccttgtagg cggttgatac tgactgactt cctgactacc ctggtagccg caggtcctgg
     1381 gctcttgccc caggctctgc ttgctggcag atgggtccgg agcgcctgtc tcctcaggac
     1441 actgcagacc ttgggaagac agtctcctgc tagcaggaac gaagcaatac ccttattctc
     1501 agttagtgtt ttctccacat aacagagctt ccctgctgtg tgcactggaa tctagctgcc
     1561 caaaagccag gcccttggta agtccagaga agtgacaaaa tttgtctcag cccaaaaagc
     1621 tagaagccca gatgcgcaga gtgactggag cgtgtcctgg gggagtgacg ttccttctgc
     1681 aaacacagct cagttcttag caacaaactg tttgttttcc gcttgactcc acccttgtgc
     1741 catgctgacc agggcctttt ccagacagcc aatgggggat atagttggcc aggcctggtc
     1801 ttagccaggg aacctggcct actagatagc cttgcctttt ggggacacag gaatgtccat
     1861 tcaggctgca gttttgggta ggaagattct ctggggctat gaatagttca tggaagctcc
     1921 ccgtctgtgg gttttcccct gcggtgtcct gagaggcaca ccttagcctc cctaacccag
     1981 aactgagaac tgtcttctct gtcagtctca gcaaaactgc tactgtattt attttgctaa
     2041 gttattgctg gttttgctta tatctcataa ttgatttagt accagtgttc tgcagctttc
     2101 tgccgaggta tttaggttta cctggacatg gggaaagtat cctggttggc ctcgttggtt
     2161 tcacagtgtc atactaactc cccatgccat ccctctagct gctgcttttc ctttctttcc
     2221 ctagagtcta cctgtatctc aggaggctca tgtctgtccc agagtgtgtg ctgtctgggg
     2281 aatagggcag tggggactgt ttgggaggaa acagaggttc ttctaatctc tctgaacact
     2341 tccacccata acaacctcta tcccagccct gaatgaccct gcagctcatc gtgttcgcta
     2401 tagtgtggtc tagtagcctc atgagtgttc tacttggctc acaaccagaa gccttaagtc
     2461 ttgtgtgttt ctgtgtcagg actagaccca gatcctggct ttgtctgtac agtgtcctga
     2521 gacttcaggc agaacgagtg ggttgtacat aatctccgtg ccccttcaaa ttcttttcct
     2581 gtctgtgaca tagtctttgt atggcaactt taataaatta tgctaacatc tctttg
//
