LOCUS       NM_001143                926 bp    mRNA    linear   PRI 30-APR-2025
DEFINITION  Homo sapiens amelogenin Y-linked (AMELY), transcript variant 1,
            mRNA.
ACCESSION   NM_001143
VERSION     NM_001143.2
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 926)
  AUTHORS   Ziganshin,R.H., Berezina,N.Y., Alexandrov,P.L., Ryabinin,V.V. and
            Buzhilova,A.P.
  TITLE     Optimization of Method for Human Sex Determination Using Peptidome
            Analysis of Teeth Enamel from Teeth of Different Biological
            Generation, Archeological Age, and Degrees of Taphonomic
            Preservation
  JOURNAL   Biochemistry (Mosc) 85 (5), 614-622 (2020)
   PUBMED   32571191
  REMARK    GeneRIF: Optimization of Method for Human Sex Determination Using
            Peptidome Analysis of Teeth Enamel from Teeth of Different
            Biological Generation, Archeological Age, and Degrees of Taphonomic
            Preservation.
REFERENCE   2  (bases 1 to 926)
  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 926)
  AUTHORS   Dogan,S., Asic,A., Dogan,G., Besic,L. and Marjanovic,D.
  TITLE     Y-Chromosome Haplogroups in the Bosnian-Herzegovinian Population
            Based on 23 Y-STR Loci
  JOURNAL   Hum Biol 88 (3), 201-209 (2016)
   PUBMED   28828942
  REMARK    GeneRIF: Finally, since these results are almost completely in
            accordance with previously published data on B&H and neighboring
            populations generated by Y-chromosome single nucleotide
            polymorphism analysis, it can be concluded that in silico analysis
            of Y-STRs is a reliable method for approximation of the
            Y-chromosome haplogroup diversity of an examined population.
REFERENCE   4  (bases 1 to 926)
  AUTHORS   Repnikova,E.A., Rosenfeld,J.A., Bailes,A., Weber,C., Erdman,L.,
            McKinney,A., Ramsey,S., Hashimoto,S., Lamb Thrush,D., Astbury,C.,
            Reshmi,S.C., Shaffer,L.G., Gastier-Foster,J.M. and Pyatt,R.E.
  TITLE     Characterization of copy number variation in genomic regions
            containing STR loci using array comparative genomic hybridization
  JOURNAL   Forensic Sci Int Genet 7 (5), 475-481 (2013)
   PUBMED   23948316
  REMARK    GeneRIF: demonstrate the presence of copy number variations in
            regions containing 9 of the 13 CODIS(Combined DNA Index System)
            short tandem repeat(STR) and AMELX/Y loci
REFERENCE   5  (bases 1 to 926)
  AUTHORS   Laouina,A., Nadifi,S., Boulouiz,R., El Arji,M., Talbi,J., El
            Houate,B., Yahia,H. and Chbel,F.
  TITLE     Mutation rate at 17 Y-STR loci in 'Father/Son' pairs from moroccan
            population
  JOURNAL   Leg Med (Tokyo) 15 (5), 269-271 (2013)
   PUBMED   23623014
  REMARK    GeneRIF: 252 confirmed and unrelated father/son pairs from the
            Moroccan population were examined using 17 Y-STR markers of the
            AmpFISTR Yfiler kit. A total of 15 single repeat mutations between
            fathers and sons were observed as mutational events.
REFERENCE   6  (bases 1 to 926)
  AUTHORS   Skaletsky,H., Kuroda-Kawaguchi,T., Minx,P.J., Cordum,H.S.,
            Hillier,L., Brown,L.G., Repping,S., Pyntikova,T., Ali,J., Bieri,T.,
            Chinwalla,A., Delehaunty,A., Delehaunty,K., Du,H., Fewell,G.,
            Fulton,L., Fulton,R., Graves,T., Hou,S.F., Latrielle,P.,
            Leonard,S., Mardis,E., Maupin,R., McPherson,J., Miner,T., Nash,W.,
            Nguyen,C., Ozersky,P., Pepin,K., Rock,S., Rohlfing,T., Scott,K.,
            Schultz,B., Strong,C., Tin-Wollam,A., Yang,S.P., Waterston,R.H.,
            Wilson,R.K., Rozen,S. and Page,D.C.
  TITLE     The male-specific region of the human Y chromosome is a mosaic of
            discrete sequence classes
  JOURNAL   Nature 423 (6942), 825-837 (2003)
   PUBMED   12815422
REFERENCE   7  (bases 1 to 926)
  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 926)
  AUTHORS   Nakahori,Y., Tamura,T., Nagafuchi,S., Fujieda,K., Minowada,S.,
            Fukutani,K., Fuse,H., Hayashi,K., Kuroki,Y., Fukushima,Y. et al.
  TITLE     Molecular cloning and mapping of 10 new probes on the human Y
            chromosome
  JOURNAL   Genomics 9 (4), 765-769 (1991)
   PUBMED   2037302
REFERENCE   9  (bases 1 to 926)
  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
REFERENCE   10 (bases 1 to 926)
  AUTHORS   Lau,E.C., Mohandas,T.K., Shapiro,L.J., Slavkin,H.C. and Snead,M.L.
  TITLE     Human and mouse amelogenin gene loci are on the sex chromosomes
  JOURNAL   Genomics 4 (2), 162-168 (1989)
   PUBMED   2737677
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011297.3, AC013412.3 and
            M86933.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 6, 2020 this sequence version replaced NM_001143.1.
            
            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 a
            related gene on chromosome X cause X-linked amelogenesis
            imperfecta. [provided by RefSeq, Jul 2008].
            
            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##
            CDS exon combination :: M86933.1, BC069138.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968832,
                                    SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000651267.2/ ENSP00000498344.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-80                AC011297.3         16180-16259         c
            81-124              AC013412.3         178549-178592       c
            125-926             M86933.1           1-802
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     gene            1..926
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /note="amelogenin Y-linked"
                     /db_xref="GeneID:266"
                     /db_xref="HGNC:HGNC:462"
                     /db_xref="MIM:410000"
     exon            1..80
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /inference="alignment:Splign:2.1.0"
     exon            81..180
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /inference="alignment:Splign:2.1.0"
     exon            181..246
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /inference="alignment:Splign:2.1.0"
     CDS             193..771
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; amelogenin (Y chromosome)"
                     /codon_start=1
                     /product="amelogenin, Y isoform isoform 1 precursor"
                     /protein_id="NP_001134.1"
                     /db_xref="CCDS:CCDS14778.1"
                     /db_xref="GeneID:266"
                     /db_xref="HGNC:HGNC:462"
                     /db_xref="MIM:410000"
                     /translation="MGTWILFACLVGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQS
                     MIRPPYSSYGYEPMGGWLHHQIIPVVSQQHPLTHTLQSHHHIPVVPAQQPRVRQQALM
                     PVPGQQSMTPTQHHQPNLPLPAQQPFQPQPVQPQPHQPMQPQPPVQPMQPLLPQPPLP
                     PMFPLRPLPPILPDLHLEAWPATDKTKQEEVD"
     exon            247..294
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /inference="alignment:Splign:2.1.0"
     exon            295..339
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /inference="alignment:Splign:2.1.0"
     exon            340..765
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /inference="alignment:Splign:2.1.0"
     exon            766..926
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      906..911
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /note="hexamer: AATAAA"
     polyA_site      926
                     /gene="AMELY"
                     /gene_synonym="AMGL; AMGY"
                     /note="major polyA site"
ORIGIN      
        1 gtgagagaag gtaccactgg gaagcaaggc cggacccagg atctgccaga ccccgacccg
       61 ccagaaccta ggatcaacag ataccttgaa ggatataaat tgagctcata gttaaagaaa
      121 atctagagga ccaagcctcc ctgtgtagca caaagaaagt ttctctgaat atatttaaag
      181 aaccatcaag aaatggggac ctggattttg tttgcctgcc ttgtgggagc agcttttgcc
      241 atgcctctac cacctcatcc tgggcaccct ggttatatca acttcagcta tgaggtgctc
      301 acccctttga agtggtacca gagcatgata agaccaccat actcttccta tggttacgag
      361 cccatgggtg gatggctgca ccaccaaatc atccccgtgg tgtcccaaca gcaccccctg
      421 actcacaccc tgcagtctca tcaccacatc ccagtggtgc cagctcagca gcccagggtc
      481 cgccagcaag cactgatgcc tgttcctggc cagcaatcca tgactccaac ccaacaccat
      541 cagccaaacc tccctctgcc tgcccagcag cccttccagc cccagcctgt tcagccacag
      601 cctcaccagc ccatgcagcc ccagccacct gtgcaaccca tgcagcccct gctgccacag
      661 ccacctctgc ctccaatgtt ccccctgcgg cccctgcccc ccatacttcc tgatctgcat
      721 ctggaagctt ggccagcaac agacaagacc aagcaggagg aagtggatta aaagaccaga
      781 atatgagaca ggaactgaag taaacacttt agttgctttc agggatgaca caagcacaca
      841 atgatttttg cttacaatca cttaacttag caaattctgt aactaaaaat gtaccaatag
      901 tagacaataa aatgttttaa aaatca
//
