LOCUS       NM_016519               2005 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ameloblastin (AMBN), mRNA.
ACCESSION   NM_016519 XM_937804
VERSION     NM_016519.6
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 2005)
  AUTHORS   Hany,U., Watson,C.M., Liu,L., Nikolopoulos,G., Smith,C.E.L.,
            Poulter,J.A., Brown,C.J., Patel,A., Rodd,H.D., Balmer,R.,
            Harfoush,A., Al-Jawad,M., Inglehearn,C.F. and Mighell,A.J.
  TITLE     Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta
            Phenotypes
  JOURNAL   J Dent Res 103 (1), 22-30 (2024)
   PUBMED   38058155
  REMARK    GeneRIF: Novel Ameloblastin Variants, Contrasting Amelogenesis
            Imperfecta Phenotypes.
REFERENCE   2  (bases 1 to 2005)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2005)
  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   4  (bases 1 to 2005)
  AUTHORS   Liang,T., Hu,Y., Smith,C.E., Richardson,A.S., Zhang,H., Yang,J.,
            Lin,B., Wang,S.K., Kim,J.W., Chun,Y.H., Simmer,J.P. and Hu,J.C.
  TITLE     AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn
            knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and
            Ambn tissue-specificity
  JOURNAL   Mol Genet Genomic Med 7 (9), e929 (2019)
   PUBMED   31402633
  REMARK    GeneRIF: Ameloblastin is critical for the initiation of enamel
            ribbon formation, and its absence results in pathological
            mineralization within the enamel organ epithelia.
REFERENCE   5  (bases 1 to 2005)
  AUTHORS   Mardh,C.K., Backman,B., Simmons,D., Golovleva,I., Gu,T.T.,
            Holmgren,G., MacDougall,M. and Forsman-Semb,K.
  TITLE     Human ameloblastin gene: genomic organization and mutation analysis
            in amelogenesis imperfecta patients
  JOURNAL   Eur J Oral Sci 109 (1), 8-13 (2001)
   PUBMED   11330937
REFERENCE   6  (bases 1 to 2005)
  AUTHORS   Toyosawa,S., Fujiwara,T., Ooshima,T., Shintani,S., Sato,A.,
            Ogawa,Y., Sobue,S. and Ijuhin,N.
  TITLE     Cloning and characterization of the human ameloblastin gene
  JOURNAL   Gene 256 (1-2), 1-11 (2000)
   PUBMED   11054529
REFERENCE   7  (bases 1 to 2005)
  AUTHORS   MacDougall,M., Simmons,D., Gu,T.T., Forsman-Semb,K., Mardh,C.K.,
            Mesbah,M., Forest,N., Krebsbach,P.H., Yamada,Y. and Berdal,A.
  TITLE     Cloning, characterization and immunolocalization of human
            ameloblastin
  JOURNAL   Eur J Oral Sci 108 (4), 303-310 (2000)
   PUBMED   10946765
REFERENCE   8  (bases 1 to 2005)
  AUTHORS   Bartlett,J.D. and Simmer,J.P.
  TITLE     Proteinases in developing dental enamel
  JOURNAL   Crit Rev Oral Biol Med 10 (4), 425-441 (1999)
   PUBMED   10634581
  REMARK    Review article
REFERENCE   9  (bases 1 to 2005)
  AUTHORS   MacDougall,M., DuPont,B.R., Simmons,D., Reus,B., Krebsbach,P.,
            Karrman,C., Holmgren,G., Leach,R.J. and Forsman,K.
  TITLE     Ameloblastin gene (AMBN) maps within the critical region for
            autosomal dominant amelogenesis imperfecta at chromosome 4q21
  JOURNAL   Genomics 41 (1), 115-118 (1997)
   PUBMED   9126491
REFERENCE   10 (bases 1 to 2005)
  AUTHORS   Lee,S.K., Krebsbach,P.H., Matsuki,Y., Nanci,A., Yamada,K.M. and
            Yamada,Y.
  TITLE     Ameloblastin expression in rat incisors and human tooth germs
  JOURNAL   Int J Dev Biol 40 (6), 1141-1150 (1996)
   PUBMED   9032019
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC134919.3, BP248666.1,
            AJ537437.1, BC106931.1 and AF209780.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016519.5.
            
            Summary: This gene encodes the nonamelogenin enamel matrix protein
            ameloblastin. The encoded protein may be important in enamel matrix
            formation and mineralization. This gene is located in the
            calcium-binding phosphoprotein gene cluster on chromosome 4.
            Mutations in this gene may be associated with dentinogenesis
            imperfect and autosomal dominant amylogenesis imperfect. [provided
            by RefSeq, Aug 2011].
            
            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 :: AF209780.1, BC106931.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2145743 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322937.10/ ENSP00000313809.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC134919.3         101700-101701
            3-28                BP248666.1         1-26
            29-1661             AJ537437.1         1-1633
            1662-1895           BC106931.1         1595-1828
            1896-1976           AF209780.1         1877-1957
            1977-1977           AC134919.3         116704-116704
            1978-2005           AF209780.1         1959-1986
FEATURES             Location/Qualifiers
     source          1..2005
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..2005
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /note="ameloblastin"
                     /db_xref="GeneID:258"
                     /db_xref="HGNC:HGNC:452"
                     /db_xref="MIM:601259"
     exon            1..118
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1447
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /note="enamel matrix protein"
                     /codon_start=1
                     /product="ameloblastin precursor"
                     /protein_id="NP_057603.1"
                     /db_xref="CCDS:CCDS3543.1"
                     /db_xref="GeneID:258"
                     /db_xref="HGNC:HGNC:452"
                     /db_xref="MIM:601259"
                     /translation="MSASKIPLFKMKDLILILCLLEMSFAVPFFPQQSGTPGMASLSL
                     ETMRQLGSLQRLNTLSQYSRYGFGKSFNSLWMHGLLPPHSSLPWMRPREHETQQYEYS
                     LPVHPPPLPSQPSLKPQQPGLKPFLQSAAATTNQATALKEALQPPIHLGHLPLQEGEL
                     PLVQQQVAPSDKPPKPELPGVDFADPQGPSLPGMDFPDPQGPSLPGLDFADPQGSTIF
                     QIARLISHGPMPQNKQSPLYPGMLYVPFGANQLNAPARLGIMSSEEVAGGREDPMAYG
                     AMFPGFGGMRPGFEGMPHNPAMGGDFTLEFDSPVAATKGPENEEGGAQGSPMPEANPD
                     NLENPAFLTELEPAPHAGLLALPKDDIPGLPRSPSGKMKGLPSVTPAAADPLMTPELA
                     DVYRTYDADMTTSVDFQEEATMDTTMAPNSLQTSMPGNKAQEPEMMHDAWHFQEP"
     exon            119..187
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            188..238
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            239..286
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            287..397
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            398..634
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            635..673
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            674..712
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            713..751
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            752..811
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            812..856
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            857..901
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     exon            902..2005
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1575..1580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /note="hexamer: AATAAA"
     polyA_site      1596
                     /gene="AMBN"
                     /gene_synonym="AI1F"
     regulatory      1982..1987
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /note="hexamer: AATAAA"
     polyA_site      2005
                     /gene="AMBN"
                     /gene_synonym="AI1F"
                     /note="major polyA site"
ORIGIN      
        1 gagaagtaca gagcaagtcc cacgcacagt cctgaaaaaa attttaatct tcttttctta
       61 gaactatctt ggttggcatc atcaggccct gagagcacag tgcatgtcag catctaagat
      121 tccacttttc aaaatgaagg acctgatact gatcctatgc ctcctggaaa tgagttttgc
      181 agtgccgttc tttcctcagc aatctggaac accgggtatg gctagtttga gccttgagac
      241 aatgagacag ttgggaagtc tgcagagatt aaacacactt tctcagtatt ctagatacgg
      301 ctttggaaaa tcatttaatt ctttgtggat gcacggtctc ctcccaccac attcctctct
      361 tccatggatg aggccaagag aacatgaaac tcaacagtat gaatattctt tgcctgtgca
      421 tcccccacct ctcccatcac agccatcctt gaagcctcaa cagccaggac tgaaaccttt
      481 tctccagtct gctgctgcaa ccaccaacca ggccacagca ctgaaagaag cacttcagcc
      541 tccaattcac ctgggacatc tgcccttgca ggaaggagaa ctgcctctgg ttcagcagca
      601 ggtggcacca tcagataagc caccaaagcc tgagctccca ggagtagatt ttgctgatcc
      661 acaaggtcca tcactcccag gaatggattt tcctgatcca caaggtccat cactcccagg
      721 attggatttt gctgatccac aaggttcaac aattttccaa atagcccgtt tgatttctca
      781 cggaccaatg ccacaaaata aacaatctcc actttatcca ggaatgttgt acgtgccttt
      841 tggagcaaat caattgaatg cccctgccag acttggcatc atgagttcag aagaagtggc
      901 aggcgggaga gaagacccaa tggcctatgg agccatgttt ccaggatttg gaggcatgag
      961 gcccggcttt gagggaatgc cccacaaccc agctatgggc ggtgacttca ctctggaatt
     1021 tgactcccca gtggctgcca ccaaaggccc tgagaacgaa gaaggaggtg cacaaggctc
     1081 ccctatgccg gaggccaacc cagacaatct agaaaaccca gctttcctta cagagctaga
     1141 acctgctccc cacgcagggc tccttgctct ccctaaggat gacattcccg gcctgccaag
     1201 gagcccttca gggaagatga agggactccc cagcgtcacc ccagcagctg ctgacccact
     1261 gatgacccct gaattagctg atgtttatag gacctacgat gctgacatga ccacatccgt
     1321 ggatttccag gaagaagcaa ccatggatac cacgatggcc ccaaactctc tgcaaacatc
     1381 catgccagga aacaaagccc aggagcccga gatgatgcat gacgcatggc atttccaaga
     1441 gccctgacag ctctaagata ttagctactt tctgtatgca caagcttccc agctttgtcc
     1501 ccacagtgta cctttttgct aaaacactta ttacccttct gcagcaaagg cattaaaagc
     1561 gctaagcata tattaataaa tgcaagtggc tagaaatagt gtaggtcccc ttcttgcttt
     1621 caatatcttg ttgaaataaa atgtgtcaat tgtctctgtg atttagaaac actattaata
     1681 acatcagagc aaggttctaa gggtctcagc atttgatcat cactttttct tagctgtctt
     1741 aagcattata gaatttctct taccagcatg acactattat attcaggaaa catggcactg
     1801 cttttttctc taagcaaagg caaatatcct cataattcta agctaattca tttaaacttt
     1861 attaaatggg gattggtgga aaactcctga ctggtattac tgggtttggt ataatttaat
     1921 ttaaaattct catttataga gtattttatt taatctagta taaaaaatct agcctatttt
     1981 aaataaagaa tttttctcac tgaaa
//
