LOCUS       NM_031889               5679 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens enamelin (ENAM), transcript variant 1, mRNA.
ACCESSION   NM_031889
VERSION     NM_031889.3
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 5679)
  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 5679)
  AUTHORS   Sharma,A., Muthu,M.S., V,V., Nuvvula,S. and T,G.
  TITLE     Genetic variations in exon 10 of ENAM and their association with
            early childhood caries
  JOURNAL   J Oral Biosci 66 (2), 349-357 (2024)
   PUBMED   38642606
  REMARK    GeneRIF: Genetic variations in exon 10 of ENAM and their
            association with early childhood caries.
REFERENCE   3  (bases 1 to 5679)
  AUTHORS   Zhang,Z., Zou,X., Feng,L., Huang,Y., Chen,F., Sun,K., Song,Y.,
            Lv,P., Gao,X., Dong,Y. and Tian,H.
  TITLE     Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta
  JOURNAL   BMC Oral Health 23 (1), 893 (2023)
   PUBMED   37985977
  REMARK    GeneRIF: Splicing mutations in AMELX and ENAM cause amelogenesis
            imperfecta.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5679)
  AUTHORS   Yu,S., Zhang,C., Zhu,C., Quan,J., Liu,D., Wang,X. and Zheng,S.
  TITLE     A novel ENAM mutation causes hypoplastic amelogenesis imperfecta
  JOURNAL   Oral Dis 28 (6), 1610-1619 (2022)
   PUBMED   33864320
  REMARK    GeneRIF: A novel ENAM mutation causes hypoplastic amelogenesis
            imperfecta.
REFERENCE   5  (bases 1 to 5679)
  AUTHORS   Kida,M., Ariga,T., Shirakawa,T., Oguchi,H. and Sakiyama,Y.
  TITLE     Autosomal-dominant hypoplastic form of amelogenesis imperfecta
            caused by an enamelin gene mutation at the exon-intron boundary
  JOURNAL   J Dent Res 81 (11), 738-742 (2002)
   PUBMED   12407086
  REMARK    GeneRIF: heterogeneous mutations are responsible for an
            autosomal-dominant hypoplastic form of amelogenesis imperfecta
REFERENCE   6  (bases 1 to 5679)
  AUTHORS   Mardh,C.K., Backman,B., Holmgren,G., Hu,J.C., Simmer,J.P. and
            Forsman-Semb,K.
  TITLE     A nonsense mutation in the enamelin gene causes local hypoplastic
            autosomal dominant amelogenesis imperfecta (AIH2)
  JOURNAL   Hum Mol Genet 11 (9), 1069-1074 (2002)
   PUBMED   11978766
  REMARK    GeneRIF: A nonsense mutation in the enamelin gene causes local
            hypoplastic autosomal dominant amelogenesis imperfecta
REFERENCE   7  (bases 1 to 5679)
  AUTHORS   Rajpar,M.H., Harley,K., Laing,C., Davies,R.M. and Dixon,M.J.
  TITLE     Mutation of the gene encoding the enamel-specific protein,
            enamelin, causes autosomal-dominant amelogenesis imperfecta
  JOURNAL   Hum Mol Genet 10 (16), 1673-1677 (2001)
   PUBMED   11487571
REFERENCE   8  (bases 1 to 5679)
  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   9  (bases 1 to 5679)
  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   10 (bases 1 to 5679)
  AUTHORS   Forsman,K., Lind,L., Backman,B., Westermark,E. and Holmgren,G.
  TITLE     Localization of a gene for autosomal dominant amelogenesis
            imperfecta (ADAI) to chromosome 4q
  JOURNAL   Hum Mol Genet 3 (9), 1621-1625 (1994)
   PUBMED   7833920
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF125373.1, BC117308.1 and
            AC009570.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 15, 2019 this sequence version replaced NM_031889.2.
            
            Summary: Dental enamel forms the outer cap of teeth and is the
            hardest substance found in vertebrates. This gene encodes the
            largest protein in the enamel matrix of developing teeth. The
            protein is involved in the mineralization and structural
            organization of enamel. Defects in this gene result in amelogenesis
            imperfect type 1C.[provided by RefSeq, Oct 2009].
            
            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 :: AF125373.1, BC117308.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396073.4/ ENSP00000379383.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1130              AF125373.1         1-1130
            1131-3752           BC117308.1         920-3541
            3753-5674           AF125373.1         3753-5674
            5675-5679           AC009570.13        161046-161050       c
FEATURES             Location/Qualifiers
     source          1..5679
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..5679
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /note="enamelin"
                     /db_xref="GeneID:10117"
                     /db_xref="HGNC:HGNC:3344"
                     /db_xref="MIM:606585"
     exon            1..221
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     exon            222..335
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..3710
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; amelogenesis imperfecta 2, hypocalcification
                     (autosomal dominant)"
                     /codon_start=1
                     /product="enamelin isoform 1 precursor"
                     /protein_id="NP_114095.2"
                     /db_xref="CCDS:CCDS3544.2"
                     /db_xref="GeneID:10117"
                     /db_xref="HGNC:HGNC:3344"
                     /db_xref="MIM:606585"
                     /translation="MLVLRCRLGTSFPKLDNLVPKGKMKILLVFLGLLGNSVAMPMHM
                     PRMPGFSSKSEEMMRYNQFNFMNGPHMAHLGPFFGNGLPQQFPQYQMPMWPQPPPNTW
                     HPRKSSAPKRHNKTDQTQETQKPNQTQSKKPPQKRPLKQPSHNQPQPEEEAQPPQAFP
                     PFGNGLFPYQQPPWQIPQRLPPPGYGRPPISNEEGGNPYFGYFGYHGFGGRPPYYSEE
                     MFEQDFEKPKEEDPPKAESPGTEPTANSTVTETNSTQPNPKGSQGGNDTSPTGNSTPG
                     LNTGNNPPAQNGIGPLPAVNASGQGGPGSQIPWRPSQPNIRENHPYPNIRNFPSGRQW
                     YFTGTVMGHRQNRPFYRNQQVQRGPRWNFFAWERKQVARPGNPVYHKAYPPTSRGNYP
                     NYAGNPANLRRKPQGPNKHPVGTTVAPLGPKPGPVVRNEKIQNPKEKPLGPKEQIIVP
                     TKNPTSPWRNSQQYEVNKSNYKLPHSEGYMPVPNFNSVDQHENSYYPRGDSRKVPNSD
                     GQTQSQNLPKGIVLGSRRMPYESETNQSELKHSSYQPAVYPEEIPSPAKEHFPAGRNT
                     WDHQEISPPFKEDPGRQEEHLPHPSHGSRGSVFYPEYNPYDPRENSPYLRGNTWDERD
                     DSPNTMGQKESPLYPINTPDQKEIVPYNEEDPVDPTGDEVFPGQNRWGEELSFKGGPT
                     VRHYEGEQYTSNQPKEYLPYSLDNPSKPREDFYYSEFYPWSPDENFPSYNTASTMPPP
                     IESRGYYVNNAAGPEESTLFPSRNSWDHRIQAQGQRERRPYFNRNIWDQATHLQKAPA
                     RPPDQKGNQPYYSNTPAGLQKNPIWHEGENLNYGMQITRMNSPEREHSSFPNFIPPSY
                     PSGQKEAHLFHLSQRGSCCAGSSTGPKDNPLALQDYTPSYGLAPGENQDTSPLYTDGS
                     HTKQTRDIISPTSILPGQRNSSEKRESQNPFRDDVSTLRRNTPCSIKNQLGQKEIMPF
                     PEASSLQSKNTPCLKNDLGGDGNNILEQVFEDNQLNERTVDLTPEQLVIGTPDEGSNP
                     EGIQSQVQENESERQQQRPSNILHLPCFGSKLAKHHSSTTGTPSSDGRQSPFDGDSIT
                     PTENPNTLVELATEEQFKSINVDPLDADEHSPFEFLQRGTNVQDQVQDCLLLQA"
     exon            336..404
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     exon            405..449
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     exon            450..491
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     exon            492..752
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     exon            753..815
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     exon            816..869
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     exon            870..5679
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5027..5032
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /note="hexamer: AATAAA"
     polyA_site      5053
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /note="major polyA site"
     regulatory      5656..5661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /note="hexamer: AATAAA"
     polyA_site      5679
                     /gene="ENAM"
                     /gene_synonym="ADAI; AI1C; AIH2"
                     /note="major polyA site"
ORIGIN      
        1 ctttttattt tgagcctttt tgatactgaa catgatatct gagtgaagaa tttttgtttt
       61 attattaaga aataaatgta tcttgcttct tgagatctcc ctggcttcag caatttgtag
      121 ttatttccac tatagaccat taagaatata tttcaaaggc aagctaacaa agttcaagta
      181 aaaattattt tttatatatt acagcttcta attggcattg gtttcttctc aggttaaagc
      241 tgtatttttc ttaaaggctt ataaaaattt tgctgaaaaa aatgttggtg cttcggtgca
      301 ggcttggaac ctcttttcct aaactagata acttggtacc aaaaggcaaa atgaagattc
      361 tcctggtctt tctagggctt cttggtaatt ctgttgctat gccaatgcac atgccccgaa
      421 tgcctggatt tagcagtaaa agtgaggaga tgatgcggta taatcaattc aactttatga
      481 acggcccaca tatggcacac ctggggccct tctttggaaa cggtctccct cagcaatttc
      541 cacagtacca gatgcccatg tggcctcagc caccacccaa cacatggcat ccacggaaat
      601 cctcagcacc caaacgtcat aacaagactg atcagaccca agaaacccag aaacccaacc
      661 agactcagtc aaaaaagcca ccacaaaagc ggcctttgaa gcagccatca cataatcaac
      721 ctcagcccga agaggaagct caaccccctc aggcattccc accatttgga aatgggctat
      781 tcccctatca acaaccacca tggcaaattc cacagaggtt accaccacca ggttatggac
      841 gcccaccaat cagcaatgaa gaagggggga atccttactt tggatatttt ggatatcatg
      901 gctttggggg tcgccctcct tattattcag aagaaatgtt tgaacaagat tttgaaaaac
      961 ccaaagaaga agatcctcct aaagcagaaa gtccaggcac agaacccaca gctaattcaa
     1021 cagtcactga gacgaattct acccaaccaa atcctaaagg gagtcaggga ggaaatgaca
     1081 ccagccccac aggaaacagt accccaggac taaacactgg gaacaaccct ccagctcaaa
     1141 atgggattgg cccactccct gcagtcaacg cttcaggcca gggagggcca ggaagtcaaa
     1201 tcccatggag accaagtcag ccaaatattc gtgaaaatca tccatatcct aatataagaa
     1261 attttccttc aggaagacag tggtatttca ctggtactgt catggggcac agacagaata
     1321 ggccttttta cagaaatcaa caagttcaaa ggggtcctcg gtggaacttc tttgcttggg
     1381 aacgtaaaca agtagctcgt ccaggaaatc cagtttatca caaagcttac cctcctactt
     1441 caagaggcaa ttatcccaat tatgcaggaa atccagcaaa tctcagaaga aagcctcagg
     1501 ggccaaataa acaccctgta ggaactactg ttgccccact gggtcccaaa cctggccctg
     1561 ttgttcgcaa tgaaaaaatc caaaatccaa aggagaagcc cctgggtcca aaagaacaaa
     1621 taatagttcc tacaaagaat ccaaccagcc cctggagaaa ctctcaacag tatgaagtta
     1681 ataaatcaaa ttataaactg cctcactctg agggttatat gccagtccca aattttaatt
     1741 ctgttgatca acatgaaaac tcctattacc caagaggaga ttccagaaaa gtcccaaatt
     1801 ctgatggaca aacccaaagc cagaatttgc ccaaagggat tgttttaggg tcaagaagga
     1861 tgccatatga atcagaaact aatcagtcag aattaaagca cagctcatat cagcctgctg
     1921 tataccctga ggaaatccct tctcctgcaa aagaacattt tcctgctgga agaaatactt
     1981 gggaccacca agaaatctct ccacctttta aggaagatcc agggaggcaa gaagaacatt
     2041 taccccatcc ttcccatggt tctagaggaa gtgttttcta ccctgaatat aacccatatg
     2101 atcccaggga aaactcacca taccttagag gcaatacatg ggatgagaga gatgattctc
     2161 ccaatactat ggggcaaaaa gaaagtccac tctaccccat aaatacccca gaccagaagg
     2221 agatagtccc ttataatgaa gaggacccag ttgatccaac tggagatgaa gtctttcctg
     2281 gacaaaatag atggggtgaa gagttgagct tcaaaggagg cccaacagtt aggcactatg
     2341 aaggtgaaca atatacctca aatcagccaa aggaatatct tccctattct ttagataatc
     2401 catcaaaacc aagggaggat ttttattaca gtgaatttta cccatggagc ccggatgaga
     2461 attttccatc atataataca gcttctacta tgccaccacc tatagagagc aggggctact
     2521 acgttaataa tgccgctgga ccagaagaaa gcactctatt tccttcacgg aattcctggg
     2581 accacaggat acaagcccaa gggcagagag aaagaaggcc gtattttaac agaaatatct
     2641 gggatcaggc aacacattta caaaaagccc cagctaggcc accagaccag aaaggtaacc
     2701 agccctatta cagtaacacc ccagctgggc ttcagaaaaa tccaatatgg catgaaggtg
     2761 agaatttgaa ctatggcatg caaataacta ggatgaattc tccagagaga gaacattcat
     2821 ctttccctaa cttcatccca ccaagttacc catcaggtca aaaagaagca catttatttc
     2881 acctaagcca gagaggctct tgctgtgctg gtagctccac agggcccaag gacaatccac
     2941 tagctctaca agactacact ccatcctatg gtcttgcacc tggggagaac caagacacca
     3001 gtcctctgta tacagacggt agtcatacca agcagacaag agatatcatc tccccaacaa
     3061 gcatcctacc aggccaaaga aacagctcag agaagaggga aagccaaaac ccttttagag
     3121 atgatgtgtc cacgctgagg aggaacacac catgttctat aaagaatcaa ctgggccaaa
     3181 aggaaattat gccctttcct gaagccagtt cccttcaatc aaagaataca ccttgtctca
     3241 aaaatgatct tggaggagat gggaacaaca ttctggaaca agtttttgaa gacaaccagc
     3301 tcaatgaaag aactgttgac cttactcctg agcagcttgt tattggtaca cctgatgaag
     3361 gctccaatcc agaaggcatc caaagtcaag tccaagaaaa tgagagtgag aggcaacagc
     3421 aaagaccatc taacattctg catttgccat gctttggctc caaattagca aagcatcact
     3481 cttccaccac cggaactcca tctagcgatg gaaggcaaag cccatttgat ggggattcaa
     3541 ttacgcctac tgaaaatcct aacacattgg ttgagttagc tactgaggaa caatttaaga
     3601 gtataaatgt agacccactt gatgcagatg aacacagtcc atttgaattc cttcaaagag
     3661 ggaccaatgt acaggaccag gtacaagact gcttactact tcaggcctag gggttatcca
     3721 accaagcatt cttggggaaa gagaaatcac tgacattcta taccaatggt tcccaaaatt
     3781 ttttccccaa gacttaatta agtgtctgac tgtcttggtg atccttaagt tttctcccct
     3841 ctcagcaata ggagtagcga cccaggtgga gctgagatta ggcctctggg gatcaccaga
     3901 tctagcactt tcacagatta gtgcagacct taaaaaagca agaaggccat gaccatccct
     3961 gcctcgaaac ttgcaagtca cttgtctgag ttagtttcct tttgcttgat gacttctttt
     4021 gctctcaaag ttccatactt gcaaaattgg tttttcaaga ctgaaaggca gattaacttt
     4081 ccattctact tatggagatc cacacatcag tatagtcctg atgcactgta cgttttttgc
     4141 ttgtgttgat cttgtcaggt ttttttccta ctcaatattc tcttcaagca ttttttttct
     4201 tccactgcca ctctctttac ctttatcatt tctttttctt agctttcttc cttcttttct
     4261 ctctccctca accattctgt atttagcttt ctaatcctca tctttttctc tctgtatatc
     4321 acttcttaca tattaaatta gctattttaa ccatttctag tctcttcttt atgtctacct
     4381 cctccattat gtcttcgtct cttccaacct atctgttctg tctcccaatg taccacttat
     4441 caactaatcc ctctcctctc tgattccttt cttcccttca atttatcttt ttccctgtta
     4501 caccattttc atcttaagac tgcatgtcac tctcttcctt tttgtatcca ctctccaaat
     4561 cgtaccctaa atttttcttg acccagctta accatcatta cagaatatat tttggaaatg
     4621 gtagacactg atagctactt tgtttttagt tatcttaggg tctctaccaa gtagacacag
     4681 ttcagttaga gagacgtatt taaggagaag ggaaggcagg atacccagaa ctagcagcct
     4741 agggaaaagg cttaggaaga tggagaatga ggaactgaag aaactgccgc tctgagactg
     4801 cacatccagg aaaaaagact aggacttgcc acacactgcc aattcataat ccgcaggatc
     4861 tgtagaagac attttgggaa acactgtctt aaataaaaac tcaatgttta gttgtttttt
     4921 ttttttttta ctagttcagc ataagggatt ctaccagtat gtgctactac taacattctt
     4981 catgtccatg cagaattact tacagacact ctttcttggt atcttgaata aattgtgtaa
     5041 attattttga aaagtggata tttctatatg ccttgcttat aatacatcag ggattattat
     5101 tcttattaat aacatgttgg cctattatct ggatgtccct tgcctagagc aggaaaaaag
     5161 tctcagaatt acctaaaaac atactttata actttaagag atttcttagg atacatcttc
     5221 aggggcagat ttcataacaa catctcaaaa atttggggaa acacaacgtt gaaaacttcc
     5281 taagaaaagg aatcttgccc ttgaatcttc tgaagtacct agcacagtgt cttcaacata
     5341 gaaggtaccc aataaatata tatcaattca ttttttaatg actttcaaca ctcccatgaa
     5401 aacaccgtag tctgcttttc ctgaaaggtg actgtctagg atgctgaatg agccaccact
     5461 ccgtagcttt atatattcag caacatttcc atcatagaat ttcagcgtta gaagggatct
     5521 tagaggtaga ttatccaggc catcccctac tgcttacatt cccctccccc tggccagttt
     5581 tatattttaa tcacacattg aaaaattcat taacttattc tgtataaaac tgtcttttaa
     5641 gaattatcct ttcaaaataa aaatgttatt gtttcacta
//
