LOCUS       NM_212557               1009 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens amelotin (AMTN), transcript variant 1, mRNA.
ACCESSION   NM_212557
VERSION     NM_212557.4
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 1009)
  AUTHORS   Rajapakse,D., Peterson,K., Mishra,S., Fan,J., Lerner,J., Campos,M.
            and Wistow,G.
  TITLE     Amelotin is expressed in retinal pigment epithelium and localizes
            to hydroxyapatite deposits in dry age-related macular degeneration
  JOURNAL   Transl Res 219, 45-62 (2020)
   PUBMED   32160961
  REMARK    GeneRIF: Amelotin is expressed in retinal pigment epithelium and
            localizes to hydroxyapatite deposits in dry age-related macular
            degeneration.
REFERENCE   2  (bases 1 to 1009)
  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   3  (bases 1 to 1009)
  AUTHORS   Yamazaki,M., Iwai,Y., Noda,K., Matsui,S., Kato,A., Takai,H.,
            Nakayama,Y. and Ogata,Y.
  TITLE     Tumor necrosis factor-alpha stimulates human amelotin gene
            transcription in gingival epithelial cells
  JOURNAL   Inflamm Res 67 (4), 351-361 (2018)
   PUBMED   29282478
  REMARK    GeneRIF: TNF-alpha stimulates AMTN gene transcription in human
            gingival epithelial cells via C/EBP1, C/EBP2, and YY1 elements in
            the human AMTN gene promoter.
REFERENCE   4  (bases 1 to 1009)
  AUTHORS   Smith,C.E., Murillo,G., Brookes,S.J., Poulter,J.A., Silva,S.,
            Kirkham,J., Inglehearn,C.F. and Mighell,A.J.
  TITLE     Deletion of amelotin exons 3-6 is associated with amelogenesis
            imperfecta
  JOURNAL   Hum Mol Genet 25 (16), 3578-3587 (2016)
   PUBMED   27412008
  REMARK    GeneRIF: This study demonstrates for the first time that AMTN
            mutations cause non-syndromic human Amelogenesis imperfecta (AI)
            and explores the human phenotype, comparing it with that of mice
            with disrupted Amtn function.
REFERENCE   5  (bases 1 to 1009)
  AUTHORS   Nunez,S.M., Chun,Y.P., Ganss,B., Hu,Y., Richardson,A.S.,
            Schmitz,J.E., Fajardo,R., Yang,J., Hu,J.C. and Simmer,J.P.
  TITLE     Maturation stage enamel malformations in Amtn and Klk4 null mice
  JOURNAL   Matrix Biol 52-54, 219-233 (2016)
   PUBMED   26620968
  REMARK    GeneRIF: Results show that AMTN and KLK4 are not essential for
            biological processes outside of the dentition or during the
            secretory stage of amelogenesis. Both KLK4 and AMTN proved to be
            essential for the maturation of dental enamel, a process that
            requires the removal of extracellularmatrix proteins and the
            deposition of ions on the sides of enamel crystallites.
            Review article
REFERENCE   6  (bases 1 to 1009)
  AUTHORS   Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
            Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1009)
  AUTHORS   Moffatt,P., Smith,C.E., St-Arnaud,R., Simmons,D., Wright,J.T. and
            Nanci,A.
  TITLE     Cloning of rat amelotin and localization of the protein to the
            basal lamina of maturation stage ameloblasts and junctional
            epithelium
  JOURNAL   Biochem J 399 (1), 37-46 (2006)
   PUBMED   16787391
REFERENCE   8  (bases 1 to 1009)
  AUTHORS   Iwasaki,K., Bajenova,E., Somogyi-Ganss,E., Miller,M., Nguyen,V.,
            Nourkeyhani,H., Gao,Y., Wendel,M. and Ganss,B.
  TITLE     Amelotin--a Novel Secreted, Ameloblast-specific Protein
  JOURNAL   J Dent Res 84 (12), 1127-1132 (2005)
   PUBMED   16304441
REFERENCE   9  (bases 1 to 1009)
  AUTHORS   Zhang,Z. and Henzel,W.J.
  TITLE     Signal peptide prediction based on analysis of experimentally
            verified cleavage sites
  JOURNAL   Protein Sci 13 (10), 2819-2824 (2004)
   PUBMED   15340161
REFERENCE   10 (bases 1 to 1009)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC134919.3, BF664579.1, AY358528.1 and BU727294.1.
            
            On Nov 22, 2018 this sequence version replaced NM_212557.3.
            
            Summary: The mineralized portions of teeth, the dentin and enamel,
            are formed by mesenchyme-derived odontoblasts and
            epithelium-derived ameloblasts, respectively. As ameloblasts
            differentiate, they deposit specific proteins necessary for enamel
            formation, including amelogenin (AMELX; MIM 300391), enamelin
            (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the
            organic enamel matrix. Amelotin is specifically expressed in
            maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed
            16304441]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AB593161.1, AY358528.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2159368
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339336.9/ ENSP00000341013.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC134919.3         28013-28015
            4-12                BF664579.1         2-10
            13-642              AY358528.1         1-630
            643-1009            BU727294.1         18-384              c
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..1009
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /note="amelotin"
                     /db_xref="GeneID:401138"
                     /db_xref="HGNC:HGNC:33188"
                     /db_xref="MIM:610912"
     exon            1..86
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     exon            87..155
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..731
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; RSTI689"
                     /codon_start=1
                     /product="amelotin isoform 1 precursor"
                     /protein_id="NP_997722.1"
                     /db_xref="CCDS:CCDS3542.1"
                     /db_xref="GeneID:401138"
                     /db_xref="HGNC:HGNC:33188"
                     /db_xref="MIM:610912"
                     /translation="MRSTILLFCLLGSTRSLPQLKPALGLPPTKLAPDQGTLPNQQQS
                     NQVFPSLSLIPLTQMLTLGPDLHLLNPAAGMTPGTQTHPLTLGGLNVQQQLHPHVLPI
                     FVTQLGAQGTILSSEELPQIFTSLIIHSLFPGGILPTSQAGANPDVQDGSLPAGGAGV
                     NPATQGTPAGRLPTPSGTDDDFAVTTPAGIQRSTHAIEEATTESANGIQ"
     exon            156..239
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     exon            240..305
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     exon            306..395
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     exon            396..431
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     exon            432..458
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     exon            459..720
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     exon            721..1009
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /inference="alignment:Splign:2.1.0"
     regulatory      986..991
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /note="hexamer: ATTAAA"
     polyA_site      1009
                     /gene="AMTN"
                     /gene_synonym="AI3B; UNQ689"
                     /note="major polyA site"
ORIGIN      
        1 attgaagggt aaaatttttc accagagtaa acttgagaaa ccaactggac cttgagtatt
       61 gtacattttg cctcgtggac ccaaaggtag caatctgaaa catgaggagt acgattctac
      121 tgttttgtct tctaggatca actcggtcat taccacagct caaacctgct ttgggactcc
      181 ctcccacaaa actggctccg gatcagggaa cactaccaaa ccaacagcag tcaaatcagg
      241 tctttccttc tttaagtctg ataccattaa cacagatgct cacactgggg ccagatctgc
      301 atctgttaaa tcctgctgca ggaatgacac ctggtaccca gacccaccca ttgaccctgg
      361 gagggttgaa tgtacaacag caactgcacc cacatgtgtt accaattttt gtcacacaac
      421 ttggagccca gggcactatc ctaagctcag aggaattgcc acaaatcttc acgagcctca
      481 tcatccattc cttgttcccg ggaggcatcc tgcccaccag tcaggcaggg gctaatccag
      541 atgtccagga tggaagcctt ccagcaggag gagcaggtgt aaatcctgcc acccagggaa
      601 ccccagcagg ccgcctccca actcccagtg gcacagatga cgactttgca gtgaccaccc
      661 ctgcaggcat ccaaaggagc acacatgcca tcgaggaagc caccacagaa tcagcaaatg
      721 gaattcagta agctgtttca aattttttca actaagctgc ctcgaatttg gtgatacatg
      781 tgaatcttta tcattgatta tattatggaa tagattgaga cacattggat agtcttagaa
      841 gaaattaatt cttaatttac ctgaaaatat tcttgaaatt tcagaaaata tgttctatgt
      901 agagaatccc aacttttaaa aacaataatt caatggataa atctgtcttt gaaatataac
      961 attatgctgc ctggatgata tgcatattaa aacatatttg gaaaactga
//
