LOCUS       NM_001142                793 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens amelogenin X-linked (AMELX), transcript variant 1,
            mRNA.
ACCESSION   NM_001142
VERSION     NM_001142.2
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 793)
  AUTHORS   Wang,S.K., Zhang,H., Lin,H.C., Wang,Y.L., Lin,S.C., Seymen,F.,
            Koruyucu,M., Simmer,J.P. and Hu,J.C.
  TITLE     AMELX Mutations and Genotype-Phenotype Correlation in X-Linked
            Amelogenesis Imperfecta
  JOURNAL   Int J Mol Sci 25 (11), 6132 (2024)
   PUBMED   38892321
  REMARK    GeneRIF: AMELX Mutations and Genotype-Phenotype Correlation in
            X-Linked Amelogenesis Imperfecta.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 793)
  AUTHORS   Sharma,A., Muthu,M.S., Vettriselvi,V., Nuvvula,S. and Gayathri,T.
  TITLE     AMELX gene association to early childhood caries in south-Indian
            children: a case-control study
  JOURNAL   Eur Arch Paediatr Dent 25 (2), 201-210 (2024)
   PUBMED   38409576
  REMARK    GeneRIF: AMELX gene association to early childhood caries in
            south-Indian children: a case-control study.
REFERENCE   3  (bases 1 to 793)
  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 793)
  AUTHORS   Shemirani,R., Le,M.H. and Nakano,Y.
  TITLE     Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA
            Formation from Amelogenin Exon4
  JOURNAL   J Dent Res 102 (11), 1210-1219 (2023)
   PUBMED   37563801
  REMARK    GeneRIF: Mutations Causing X-Linked Amelogenesis Imperfecta Alter
            miRNA Formation from Amelogenin Exon4.
REFERENCE   5  (bases 1 to 793)
  AUTHORS   Leban,T., Trebusak Podkrajsek,K., Kovac,J., Fidler,A. and Pavlic,A.
  TITLE     An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined
            Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta:
            Case Series and Review of the Literature
  JOURNAL   Genes (Basel) 13 (7), 1272 (2022)
   PUBMED   35886055
  REMARK    GeneRIF: An Intron c.103-3T&gt;C Variant of the AMELX Gene Causes
            Combined Hypomineralized and Hypoplastic Type of Amelogenesis
            Imperfecta: Case Series and Review of the Literature.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 793)
  AUTHORS   Aldred,M.J., Crawford,P.J., Roberts,E. and Thomas,N.S.
  TITLE     Identification of a nonsense mutation in the amelogenin gene
            (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)
  JOURNAL   Hum Genet 90 (4), 413-416 (1992)
   PUBMED   1483698
REFERENCE   7  (bases 1 to 793)
  AUTHORS   Salido,E.C., Yen,P.H., Koprivnikar,K., Yu,L.C. and Shapiro,L.J.
  TITLE     The human enamel protein gene amelogenin is expressed from both the
            X and the Y chromosomes
  JOURNAL   Am J Hum Genet 50 (2), 303-316 (1992)
   PUBMED   1734713
REFERENCE   8  (bases 1 to 793)
  AUTHORS   Lagerstrom,M., Dahl,N., Nakahori,Y., Nakagome,Y., Backman,B.,
            Landegren,U. and Pettersson,U.
  TITLE     A deletion in the amelogenin gene (AMG) causes X-linked
            amelogenesis imperfecta (AIH1)
  JOURNAL   Genomics 10 (4), 971-975 (1991)
   PUBMED   1916828
REFERENCE   9  (bases 1 to 793)
  AUTHORS   Fincham,A.G., Bessem,C.C., Lau,E.C., Pavlova,Z., Shuler,C.,
            Slavkin,H.C. and Snead,M.L.
  TITLE     Human developing enamel proteins exhibit a sex-linked dimorphism
  JOURNAL   Calcif Tissue Int 48 (4), 288-290 (1991)
   PUBMED   2059881
REFERENCE   10 (bases 1 to 793)
  AUTHORS   Nakahori,Y., Takenaka,O. and Nakagome,Y.
  TITLE     A human X-Y homologous region encodes 'amelogenin'
  JOURNAL   Genomics 9 (2), 264-269 (1991)
   PUBMED   2004775
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M86932.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 19, 2000 this sequence version replaced NM_001142.1.
            
            Summary: This gene encodes a member of the amelogenin family of
            extracellular matrix proteins. Amelogenins are involved in
            biomineralization during tooth enamel development. Mutations in
            this gene cause X-linked amelogenesis imperfecta. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) lacks an in-frame exon in the
            coding region, compared to variant 3. Isoform 1 is shorter than
            isoform 3 and is the most abundant isoform of this protein.
            
            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 :: M86932.1, BC074951.2 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2161674
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380714.7/ ENSP00000370090.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-793               M86932.1           1-793
FEATURES             Location/Qualifiers
     source          1..793
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..793
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /note="amelogenin X-linked"
                     /db_xref="GeneID:265"
                     /db_xref="HGNC:HGNC:461"
                     /db_xref="MIM:300391"
     exon            1..56
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /inference="alignment:Splign:2.1.0"
     exon            57..122
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..644
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; amelogenin (X chromosome, amelogenesis
                     imperfecta 1); amelogenin (amelogenesis imperfecta 1,
                     X-linked)"
                     /codon_start=1
                     /product="amelogenin, X isoform isoform 1 precursor"
                     /protein_id="NP_001133.1"
                     /db_xref="CCDS:CCDS14144.1"
                     /db_xref="GeneID:265"
                     /db_xref="HGNC:HGNC:461"
                     /db_xref="MIM:300391"
                     /translation="MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQS
                     IRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMP
                     VPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPP
                     MFPMQPLPPMLPDLTLEAWPSTDKTKREEVD"
     exon            123..170
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /inference="alignment:Splign:2.1.0"
     exon            171..212
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /inference="alignment:Splign:2.1.0"
     exon            213..638
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /inference="alignment:Splign:2.1.0"
     exon            639..793
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      773..778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /note="hexamer: AATAAA"
     polyA_site      793
                     /gene="AMELX"
                     /gene_synonym="AI1E; AIH1; ALGN; AMG; AMGL; AMGX"
                     /note="major polyA site"
ORIGIN      
        1 aaaggatcaa gcatccctga gtttcaaaca gaaacttgca ctgaatacat tcaaagaacc
       61 atcaagaaat ggggacctgg attttatttg cctgcctcct gggagcagct tttgccatgc
      121 ctctaccacc tcatcctggg caccctggtt atatcaactt cagctatgag gtgcttaccc
      181 ctttgaagtg gtaccagagc ataaggccac cgtacccttc ctatggttac gagcccatgg
      241 gtggatggct gcaccaccaa atcatccccg tgctgtccca acagcacccc ccgactcaca
      301 ccctgcagcc tcatcaccac atcccagtgg tgccagctca gcagcccgtg atcccccagc
      361 aaccaatgat gcccgttcct ggccaacact ccatgactcc aatccaacac caccagccaa
      421 acctccctcc gcccgcccag cagccctacc agccccagcc tgttcagcca cagcctcacc
      481 agcccatgca gccccagcca cctgtgcacc ccatgcagcc cctgccgcca cagccacctc
      541 tgcctccgat gttccccatg cagcccctgc ctcccatgct tcctgatctg actctggaag
      601 cttggccatc aacagacaag accaagcggg aggaagtgga ttaaaagatc agaagatgag
      661 aggggaatga atacttcaga tgctttcagg agtgacacaa gaacacaatg atttttgctt
      721 ataatcactt tacttagcaa attctgtaac taaaaaagta ccattagcag acaataaaat
      781 gcattaaaaa tca
//
