LOCUS       NM_017468               5490 bp    mRNA    linear   ROD 28-JAN-2025
DEFINITION  Mus musculus enamelin (Enam), mRNA.
ACCESSION   NM_017468 XM_976899
VERSION     NM_017468.3
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 5490)
  AUTHORS   Wang,Y.L., Lin,H.C., Liang,T., Lin,J.C., Simmer,J.P., Hu,J.C. and
            Wang,S.K.
  TITLE     ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta
  JOURNAL   J Dent Res 103 (6), 662-671 (2024)
   PUBMED   38716742
  REMARK    GeneRIF: ENAM Mutations Can Cause Hypomaturation Amelogenesis
            Imperfecta.
REFERENCE   2  (bases 1 to 5490)
  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   3  (bases 1 to 5490)
  AUTHORS   Gruper,Y., Wolff,A.S.B., Glanz,L., Spoutil,F., Marthinussen,M.C.,
            Osickova,A., Herzig,Y., Goldfarb,Y., Aranaz-Novaliches,G.,
            Dobes,J., Kadouri,N., Ben-Nun,O., Binyamin,A., Lavi,B., Givony,T.,
            Khalaila,R., Gome,T., Wald,T., Mrazkova,B., Sochen,C., Besnard,M.,
            Ben-Dor,S., Feldmesser,E., Orlova,E.M., Hegedus,C., Lampe,I.,
            Papp,T., Felszeghy,S., Sedlacek,R., Davidovich,E., Tal,N.,
            Shouval,D.S., Shamir,R., Guillonneau,C., Szondy,Z., Lundin,K.E.A.,
            Osicka,R., Prochazka,J., Husebye,E.S. and Abramson,J.
  TITLE     Autoimmune amelogenesis imperfecta in patients with APS-1 and
            coeliac disease
  JOURNAL   Nature 624 (7992), 653-662 (2023)
   PUBMED   37993717
REFERENCE   4  (bases 1 to 5490)
  AUTHORS   Ruspita,I., Das,P., Miyoshi,K., Noma,T., Snead,M.L. and Bei,M.
  TITLE     Enam expression is regulated by Msx2
  JOURNAL   Dev Dyn 252 (10), 1292-1302 (2023)
   PUBMED   37191055
  REMARK    GeneRIF: Enam expression is regulated by Msx2.
REFERENCE   5  (bases 1 to 5490)
  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
REFERENCE   6  (bases 1 to 5490)
  AUTHORS   Dong,J., Gu,T.T., Simmons,D. and MacDougall,M.
  TITLE     Enamelin maps to human chromosome 4q21 within the autosomal
            dominant amelogenesis imperfecta locus
  JOURNAL   Eur J Oral Sci 108 (5), 353-358 (2000)
   PUBMED   11037750
REFERENCE   7  (bases 1 to 5490)
  AUTHORS   Hrabe de Angelis,M.H., Flaswinkel,H., Fuchs,H., Rathkolb,B.,
            Soewarto,D., Marschall,S., Heffner,S., Pargent,W., Wuensch,K.,
            Jung,M., Reis,A., Richter,T., Alessandrini,F., Jakob,T., Fuchs,E.,
            Kolb,H., Kremmer,E., Schaeble,K., Rollinski,B., Roscher,A.,
            Peters,C., Meitinger,T., Strom,T., Steckler,T., Holsboer,F.,
            Klopstock,T., Gekeler,F., Schindewolf,C., Jung,T., Avraham,K.,
            Behrendt,H., Ring,J., Zimmer,A., Schughart,K., Pfeffer,K., Wolf,E.
            and Balling,R.
  TITLE     Genome-wide, large-scale production of mutant mice by ENU
            mutagenesis
  JOURNAL   Nat Genet 25 (4), 444-447 (2000)
   PUBMED   10932192
REFERENCE   8  (bases 1 to 5490)
  AUTHORS   Hu,C.C., Hart,T.C., Dupont,B.R., Chen,J.J., Sun,X., Qian,Q.,
            Zhang,C.H., Jiang,H., Mattern,V.L., Wright,J.T. and Simmer,J.P.
  TITLE     Cloning human enamelin cDNA, chromosomal localization, and analysis
            of expression during tooth development
  JOURNAL   J Dent Res 79 (4), 912-919 (2000)
   PUBMED   10831092
REFERENCE   9  (bases 1 to 5490)
  AUTHORS   Hu,C.C., Fukae,M., Uchida,T., Qian,Q., Zhang,C.H., Ryu,O.H.,
            Tanabe,T., Yamakoshi,Y., Murakami,C., Dohi,N., Shimizu,M. and
            Simmer,J.P.
  TITLE     Cloning and characterization of porcine enamelin mRNAs
  JOURNAL   J Dent Res 76 (11), 1720-1729 (1997)
   PUBMED   9372788
REFERENCE   10 (bases 1 to 5490)
  AUTHORS   Fukae,M., Tanabe,T., Murakami,C., Dohi,N., Uchida,T. and Shimizu,M.
  TITLE     Primary structure of the porcine 89-kDa enamelin
  JOURNAL   Adv Dent Res 10 (2), 111-118 (1996)
   PUBMED   9206327
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ046275.1, BC115848.1, AC121585.3 and BB093794.1.
            
            On Apr 15, 2009 this sequence version replaced NM_017468.2.
            
            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 :: U82698.1, BC115848.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            RefSeq Select criteria           :: based on expression, longest
                                                protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                CJ046275.1         13-100
            89-937              BC115848.1         1-849
            938-938             AC121585.3         163839-163839
            939-4152            BC115848.1         851-4064
            4153-5467           AC121585.3         167054-168368
            5468-5490           BB093794.1         291-313
FEATURES             Location/Qualifiers
     source          1..5490
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 43.66 cM"
     gene            1..5490
                     /gene="Enam"
                     /gene_synonym="abte"
                     /note="enamelin"
                     /db_xref="GeneID:13801"
                     /db_xref="MGI:MGI:1333772"
     exon            1..214
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            215..275
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            276..353
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            354..419
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            420..470
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            471..512
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            513..785
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            786..848
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            849..899
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
     exon            900..5490
                     /gene="Enam"
                     /gene_synonym="abte"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tttttatgtt aagacttttg ggtactgaac atgacacctt cttgaagaat ttttgtttta
       61 ttattaagaa ataaatgtgt cttgctcctt ggctctctct ggcttcagca gtttgtagtc
      121 atttctacca tagaccatta agaacatatt tcaaagacag gttaacaagg ttcaagttta
      181 ctttttatct agtgcagctt ctaagtggca ttggctctca tcctaacctt aaagctccga
      241 agattaagct cggttttgag gaccctctca taagggctta tgaaagtttt ggtgaaaaca
      301 tgttgctgct tcagtgcaga aatccgactt ctcctccaaa gccatgtggc ctggtaccaa
      361 atgtaaagat gagtctcctt gttttcctgg gtctgcttgg tgtctctgct gccatgccat
      421 tccagatgcc aatgccccga atgcctggat ttagcagtaa aagtgaagag atgatgcgat
      481 ataatcaatt caacttcatg aatgccccac caatgatgcc tatgggccca tatggaaatg
      541 gtatgccaat gccgccacac atgcctccac agtaccctcc ataccagatg cccatgtggc
      601 ctccaccagt acccaatgga tggcagcaac ccccaatgcc caatttccca agcaagactg
      661 atcaaaccca ggagaccgcc aaacccaacc agaccaatcc acaagagcca cagccacaaa
      721 agcagccttt aaaggaacca ccaaatgaag cagcacgggc caaagatgac gcccagccac
      781 ctcagccatt cccaccattt ggcaatggac tttaccccta tccacaacca ccatggccaa
      841 ttccacagag gggaccacca acagcgtttg gacggccaaa gttcagcaat gaagaaggaa
      901 atccttacta tgcatttttt ggatatcacg gctttggggg tcgtccttat tactcagaag
      961 agatgtttga agattatgaa aaacccaaag aaaaagaccc tcctaaacca gaggacccac
     1021 ctccagatga cccaccccca gaggcctcta caaactcaac tgtgcctgat gctaatgcca
     1081 ctcaatcaat tcctgaaggc ggaaatgaca ctagcccaat aggaaacaca ggccctgggc
     1141 cgaacgctgg gaacaatcct acagttcaaa acggtgtctt ccctccccct aaagttaatg
     1201 tttcaggcca gggagtacca aaaagccaaa ttccgtggag accaagtcag ccaaatattt
     1261 atgagaatta tccttaccca aattatcctt cagaaagaca atggcaaacc actggtaccc
     1321 aggggcctag acagaatgga cctggctacc gaaatccaca agttgaaagg ggtcctcagt
     1381 ggaattcctt tgcttgggaa ggcaaacaag ctactcgtcc aggaaaccca acttacggta
     1441 aacctccctc tcctacctcc ggggttaatt atgcaggaaa tccagtccat ttcggaagaa
     1501 acctgccagg gccaaataaa ccctttgtgg gagccaatcc ggcctcaaat aaaccctttg
     1561 tgggagccaa tccggcctca aacaaaccct ttgtgggagc taatccggcc tcaaacaaac
     1621 cctttgtggg agccaatccg gcctcaaata aaccctttgt gggagccaat ccggcctcaa
     1681 ataaacccta tgtgggagcc aatccggcct caaacaaacc ctttatagga gccaatccgg
     1741 ctgcaaacaa accatctata ggaaccaatc cagccgcaaa caaaccatct ataggaacca
     1801 atccagctgc aaataaaccc tttgtgagaa acaatgtagg tgcaaataaa ccctttgtgg
     1861 gaaccaatcc ctcctcaaac caaccatttc tgagaagcaa tcaggcctca aataaaccat
     1921 ttatgagaag caatcaggcc tcaaataaac catttgtggg caccaatgtg gcctcagtgg
     1981 gtcctaaaca ggtcactgtt agccacaata tgaaaactca aaatccaaaa gaaaagtcac
     2041 taggtcaaaa agaaagaaca gtcactccta ccaaagatgc aagcaacccc tggagaagtg
     2101 ctaaacaata tggaattaac aatccaaact ataatttgcc tcgctctgag ggcagcatgg
     2161 taggcccaaa ttttaattcc tttgatcaac aagaaaactc ctacttctca aaaggagctt
     2221 ccaaaagagt accaagtcct aatatacaaa tccaaagcca gaatttgccc aaaggaattg
     2281 ctttagagcc aagaagaacc ccatttcaat cagaaactaa aaaacctgag ttaaaacatg
     2341 gtacacacca gcctgcatac cctaagaaaa tcccttctcc tacaagaaaa catttccctg
     2401 ctgaaagaaa tacctggaat cgtcaaaaaa tccttccacc cttaaaggaa gactatggga
     2461 ggcaagacga aaatttacgt catccgtcct atggctctag aggaaatatt ttttaccatg
     2521 aatataccaa tccttatcat aatgaaaaat cacagtacat taaaagcaat ccatgggata
     2581 agagctctcc cagtactatg atgcggccag aaaacccaca gtacaccatg acttctctag
     2641 accagaagga gacagagcag tacaatgaag aggatccaat tgatccaaat gaagatgaat
     2701 cttttccagg acaaagtaga tggggggatg aagagatgaa cttcaaagga aacccaacag
     2761 ttaggcagta tgaaggtgag cactacgcct caaccctagc gaaggaatac cttccttatt
     2821 ccttaagtaa tccaccaaaa cccagtgaag attttcctta cagtgaattc tatccctgga
     2881 acccacagga aacgtttcca atatataacc caggtcctac tatagcacca cccgtggacc
     2941 ccagaagtta ttatgttaat aatgccatag gacaagaaga aagcactctc tttccttcat
     3001 ggacctcctg ggaccacagg aatcaagctg agaggcagaa agagagtgag ccatatttta
     3061 acagaaatgt ctgggatcag tcaataaatt tacacaaatc taatatacca aaccatcctt
     3121 attccactac atcccctgct agatttccaa aagatccaac atggtttgaa ggtgagaatt
     3181 tgaactatga tttgcaaatt actagtttaa gtccaccaga aagagaacag ttggctttcc
     3241 cagacttcct gcctcaaagt tacccaacag gtcaaaatga agcacactta tttcaccaaa
     3301 gtcaaagagg gtcttgctgt attggtggct ccacaggaca taaagacaat gtgctggctc
     3361 tacaagacta cacttcatcc tatggtcttc caccaaggaa gaaccaagaa accagtccag
     3421 tgcatacaga aagcagttat atcaagtatg caagacctaa cgtttcccca gcaagcatcc
     3481 tacctagtca aagaaatatc tcagagaaca aactaactgc agaaagccca aacccaagtc
     3541 catttggaga tggtgtgcct actgtgagga aaaatactcc atattctgga aagaatcaac
     3601 tagagacagg aattgtggcc ttttctgaag ccagctcttc tcagccaaaa aacacgccct
     3661 gtcttaaaag tgaccttgga ggagatcgga gggatgttct gaaacaattt tttgaaggca
     3721 gccagctgag tgaaagaact gctggcctta ctcctgagca gctcgtcatt ggtattcctg
     3781 ataaaggctc tggcccagat agcatacaaa gtgaagtcca aggaaaagag ggtgagatgc
     3841 agcaacaaag gccacctacc atcatgaagt tgccatgctt tggctccaat tcaaaatttc
     3901 actcttctac cactggacct ccaattaaca acagaagacc aaccctactt aatggtgctc
     3961 tctccacacc cactgaaagt cctaacacat tggttgggtt agctactagg gaacaactta
     4021 aaagtataaa cgtagataaa cttaatgcag atgaacacac tacactcgaa tcttttcaag
     4081 gaaccagtcc acaggaccaa ggctgcttac tgcttcaggc ttagggatcg cttcaactga
     4141 acatccttgg gggatgaaaa aaagaaaaaa actagcaatc ctatgtcaat gattctgcaa
     4201 ctttgtaccc tgagacttga ttaccttctt atgaccccta agcctttttc tctcccaaca
     4261 gtagaaatag tggcccaggt agagttaatg agattgggcc tctggggctg gctggatcca
     4321 gcactgtaac aagttagtgc tcacttaaga aaaagcatga aggccatgac cattcctgcc
     4381 ttgaaacttg gaagctattt gattgtctga gttagttccc tctttcttgt taacttatcc
     4441 tgtttctctc aaattactta caatgctctc tggttttgca cgtctagcag gctgttgagt
     4501 tttccatttt catacagaga tctgcacacc agtatggtcc ttatgcactc tttcctgtat
     4561 gttgtttctg tgtgttctat ttctagttaa gagtctcttt ggcatgtttc ctcccactgt
     4621 ctccttgctc tcttctctct gcttccttct ccatgcagct cggtgtccct cacattctct
     4681 ctctgtccgt cgtttctcac atgctgagat actgactggc accactggca gtcccttatg
     4741 tctgatgacc ccttcatgat ttcctttccc ttcaattttc tgttctgtct ccaaatgtgg
     4801 aactttgatc ttttaccaaa attaaccttt cctctctatt ttttgttaaa tttctttttc
     4861 cctcacttta tatatacagt tttcgtgcgt taagactata catcaccttc actctctgaa
     4921 tccactctgc aaattctact ctctttttct cagccaaacc atcactgtag ataacacgtc
     4981 tgaaatagct gcttttgttg ttaattttct catgacctct ccacatagac accctggttg
     5041 taaaagcaca ttctaggaga atggaagaca gcctagacac cagatagatc atagagctta
     5101 ggaaagtgga aaatgaagaa gagaagaaat tgtcgctctg ggactgagca tctaggaaaa
     5161 aagactctca ctgtactgtg tcatcaattt tcaatctcca agatctgcag aggacatttc
     5221 ttgaaatact accttatgca gataaagcac tcaatgttta gttttctcta ctagttcagt
     5281 ataaattatt gtaccattat atattatgac tattatgttt atgcttcata tccttgtaga
     5341 tttttcccag acacaacttc caggtatcat gattaaatag tgtaaattat tttgtaaagt
     5401 agatatttct atattgtctt gcttagaaaa tatttgagtt ttattgatat tatttttact
     5461 gttattaaag gcattttggc ctgttatctg
//
