LOCUS       NM_001372076            4166 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens paired box 9 (PAX9), transcript variant 1, mRNA.
ACCESSION   NM_001372076
VERSION     NM_001372076.1
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 4166)
  AUTHORS   Li,B., Tao,Q., Hu,X., Li,T. and Bao,Y.
  TITLE     [miR-181b-5p promotes cell proliferation and induces apoptosis in
            human acute myeloid leukemia by targeting PAX9]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 39 (12), 1074-1082 (2023)
   PUBMED   38140866
  REMARK    GeneRIF: [miR-181b-5p promotes cell proliferation and induces
            apoptosis in human acute myeloid leukemia by targeting PAX9].
REFERENCE   2  (bases 1 to 4166)
  AUTHORS   Jiang,C., Yu,K., Shen,Y., Wang,F., Dai,Q. and Wu,Y.
  TITLE     The phenotype and genotype of PAX9 mutations causing tooth agenesis
  JOURNAL   Clin Oral Investig 27 (8), 4369-4378 (2023)
   PUBMED   37184613
  REMARK    GeneRIF: The phenotype and genotype of PAX9 mutations causing tooth
            agenesis.
REFERENCE   3  (bases 1 to 4166)
  AUTHORS   Chu,K.Y., Wang,Y.L., Chen,J.T., Lin,C.H., Yao,C.J., Chen,Y.J.,
            Chen,H.W., Simmer,J.P., Hu,J.C. and Wang,S.K.
  TITLE     PAX9 mutations and genetic synergism in familial tooth agenesis
  JOURNAL   Ann N Y Acad Sci 1524 (1), 87-96 (2023)
   PUBMED   37005710
  REMARK    GeneRIF: PAX9 mutations and genetic synergism in familial tooth
            agenesis.
REFERENCE   4  (bases 1 to 4166)
  AUTHORS   Ranjan,P. and Das,P.
  TITLE     An inclusive study of deleterious missense PAX9 variants using
            user-friendly tools reveals structural, functional alterations, as
            well as potential therapeutic targets
  JOURNAL   Int J Biol Macromol 233, 123375 (2023)
   PUBMED   36702222
  REMARK    GeneRIF: An inclusive study of deleterious missense PAX9 variants
            using user-friendly tools reveals structural, functional
            alterations, as well as potential therapeutic targets.
REFERENCE   5  (bases 1 to 4166)
  AUTHORS   Ren,J., Zhao,Y., Yuan,Y., Zhang,J., Ding,Y., Li,M., An,Y., Chen,W.,
            Zhang,L., Liu,B., Zheng,S. and Shen,W.
  TITLE     Novel PAX9 compound heterozygous variants in a Chinese family with
            non-syndromic oligodontia and genotype-phenotype analysis of PAX9
            variants
  JOURNAL   J Appl Oral Sci 31, e20220403 (2023)
   PUBMED   36995881
  REMARK    GeneRIF: Novel PAX9 compound heterozygous variants in a Chinese
            family with non-syndromic oligodontia and genotype-phenotype
            analysis of PAX9 variants.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4166)
  AUTHORS   Kobielak,A., Kobielak,K., Wisniewski,A.S., Mostowska,A.,
            Biedziak,B. and Trzeciak,W.H.
  TITLE     The novel polymorphic variants within the paired box of the PAX9
            gene are associated with selective tooth agenesis
  JOURNAL   Folia Histochem Cytobiol 39 (2), 111-112 (2001)
   PUBMED   11374781
  REMARK    Review article
REFERENCE   7  (bases 1 to 4166)
  AUTHORS   Hetzer-Egger,C., Schorpp,M. and Boehm,T.
  TITLE     Evolutionary conservation of gene structures of the Pax1/9 gene
            family
  JOURNAL   Biochim Biophys Acta 1492 (2-3), 517-521 (2000)
   PUBMED   10899593
REFERENCE   8  (bases 1 to 4166)
  AUTHORS   Stockton,D.W., Das,P., Goldenberg,M., D'Souza,R.N. and Patel,P.I.
  TITLE     Mutation of PAX9 is associated with oligodontia
  JOURNAL   Nat Genet 24 (1), 18-19 (2000)
   PUBMED   10615120
REFERENCE   9  (bases 1 to 4166)
  AUTHORS   Peters,H., Schuster,G., Neubuser,A., Richter,T., Hofler,H. and
            Balling,R.
  TITLE     Isolation of the Pax9 cDNA from adult human esophagus
  JOURNAL   Mamm Genome 8 (1), 62-64 (1997)
   PUBMED   9021154
REFERENCE   10 (bases 1 to 4166)
  AUTHORS   Stapleton,P., Weith,A., Urbanek,P., Kozmik,Z. and Busslinger,M.
  TITLE     Chromosomal localization of seven PAX genes and cloning of a novel
            family member, PAX-9
  JOURNAL   Nat Genet 3 (4), 292-298 (1993)
   PUBMED   7981748
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL079303.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene is a member of the paired box (PAX) family of
            transcription factors. Members of this gene family typically
            contain a paired box domain, an octapeptide, and a paired-type
            homeodomain. These genes play critical roles during fetal
            development and cancer growth. Mice lacking this gene exhibit
            impaired development of organs, musculature and the skeleton,
            including absent and abnormally developed teeth, and neonatal
            lethality. Mutations in the human gene are associated with
            selective tooth agenesis-3. [provided by RefSeq, Sep 2015].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR14038194.2147553.1,
                                           SRR11853564.8498.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361487.7/ ENSP00000355245.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-234               AL079303.3         99476-99709
            235-861             AL079303.3         100513-101139
            862-1001            AL079303.3         104078-104217
            1002-4166           AL079303.3         113814-116978
FEATURES             Location/Qualifiers
     source          1..4166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.3"
     gene            1..4166
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="paired box 9"
                     /db_xref="GeneID:5083"
                     /db_xref="HGNC:HGNC:8623"
                     /db_xref="MIM:167416"
     exon            1..234
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1256
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="paired domain gene 9"
                     /codon_start=1
                     /product="paired box protein Pax-9"
                     /protein_id="NP_001359005.1"
                     /db_xref="CCDS:CCDS9662.1"
                     /db_xref="GeneID:5083"
                     /db_xref="HGNC:HGNC:8623"
                     /db_xref="MIM:167416"
                     /translation="MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISR
                     QLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPTVVKHIRTYKQRDPGIFAWEI
                     RDRLLADGVCDKYNVPSVSSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIY
                     SYPSPITAAAAKVPTPPGVPAIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYH
                     SPKVEEWSSLGRNNFPAAAPHAVNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAP
                     YPTPAQVSPYMTYSAAPSGYVAGHGWQHAGGTSLSPHNCDIPASLAFKGMQAAREGSH
                     SVTASAL"
     exon            235..861
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /inference="alignment:Splign:2.1.0"
     exon            862..1001
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..4166
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1667..1672
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="hexamer: AATAAA"
     polyA_site      1693
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="major polyA site"
     regulatory      2537..2542
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="hexamer: AATACA"
     polyA_site      2559
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
     regulatory      2585..2590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="hexamer: ATTACA"
     regulatory      2606..2611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="hexamer: CATAAA"
     polyA_site      2611
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="major polyA site"
     polyA_site      2625
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
     regulatory      4149..4154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="hexamer: AATAAA"
     polyA_site      4166
                     /gene="PAX9"
                     /gene_synonym="STHAG3"
                     /note="major polyA site"
ORIGIN      
        1 agcccagccc acgttgctgc ttagattgaa atgcagaact caagcctctt tcatcggggc
       61 acagacttcc ttttacttct tccttttgcc ctctcgcctc ctcctcctgg gaagaagcgg
      121 aggcgccggc ggtcggccgg gatagcaaca ggccgggcca ctgaggcggt gcggaaagtt
      181 tctgtctggg agtgcggaac tggggccggg ttggtgtact gctcggagca atggagccag
      241 ccttcgggga ggtgaaccag ctgggaggag tgttcgtgaa cgggaggccg ctgcccaacg
      301 ccatccggct tcgcatcgtg gaactggccc aactgggcat ccgaccgtgt gacatcagcc
      361 gccagctacg ggtctcgcac ggctgcgtca gcaagatcct ggcgcgatac aacgagacgg
      421 gctcgatctt gccaggagcc atcgggggca gcaagccccg ggtcactacc cccaccgtgg
      481 tgaaacacat ccggacctac aagcagagag accccggcat cttcgcctgg gagatccggg
      541 accgcctgct ggcggacggc gtgtgcgaca agtacaatgt gccctccgtg agctccatca
      601 gccgcattct gcgcaacaag atcggcaact tggcccagca gggtcattac gactcataca
      661 agcagcacca gccgacgccg cagccagcgc tgccctacaa ccacatctac tcgtacccca
      721 gccctatcac ggcggcggcc gccaaggtgc ccacgccacc cggggtgcct gccatccccg
      781 gttcggtggc catgccgcgc acctggccct cctcgcactc cgtcaccgac atcctgggca
      841 tccgctccat caccgaccaa gtgagcgaca gctcccccta ccacagcccc aaggtggagg
      901 agtggagcag cctgggccgc aacaacttcc ccgccgccgc cccgcacgcg gtgaacgggt
      961 tggagaaggg agccctggag caggaagcca agtacggtca ggcaccaaat ggtctcccag
     1021 ctgtgggcag ttttgtgtca gcatccagca tggctcctta ccctacccca gcccaagtgt
     1081 cgccttacat gacctacagt gctgctcctt ctggttatgt tgctggacat gggtggcaac
     1141 atgctggggg cacctcattg tctccccaca actgtgacat tccggcatcg ctggcgttca
     1201 agggaatgca ggcagccaga gaaggtagtc attctgtcac ggcttccgcg ctctgatggg
     1261 aaattccgtc tccagcagct tcacccgggt ctccctgtct cagcacctcc tcccccaatt
     1321 cccaggtctc acatcccacc cctcctgccc tccaaccctt ctgccttgaa agctggctgt
     1381 acggactcac atcctttgtg ctaatgacac ttacatattt cttgccataa cttttctctt
     1441 gcagaaaaac tgacatgact ttaggattta aaaacaagag caacaataag cattgaatga
     1501 gacatttgtg ttgcccacat actgtcttaa cataacaaag aaacctacac ccctcaaagg
     1561 gtttaaggaa ctttacaaac tagtctttgg taaaaccaca tgtgtatatt tattctaaat
     1621 caacctgaac ttttgaaatg tgcaattgtt gagattttgc aaaatcaata aaggaaaata
     1681 cttatagaaa aaattatgct acaccctcta atcaaatatg gtaaccaagt aagctttaat
     1741 tcatcattag gaaacaaatc aataagtgac ttgtttgagt gatcctttgt ttaagacatg
     1801 acctattttg ttgaaaaata tatgtagaac ccaagcaata tctgaatcta gctctccctg
     1861 gtgttttgac ttggttccaa atacaataat gtttatattt tctattagtt tgtaaatacg
     1921 gactctggat ggtgcatttg tgtcttcatt ccataagata ttcccctccc ctcagcccca
     1981 ccccctctct atttttttct ttcttttttg caaaggtgac tttctggcaa cgtctttgtc
     2041 tctgtttggt ggtgggctgc tcgggctcct ggacctggac ttgcccccaa attttgtgta
     2101 tgcagtgaag gcttcaacat ctcatgaagg acactttatt tctacagcag aggacacgaa
     2161 aaacagataa aacaagccag tctcccattt tgtacctaat caaacaacac acatgctaag
     2221 catataaaga caagagggtg gaaaatatct gaacaagaag gctctaaagg aagtcactta
     2281 gaaacttaag tttaatgtga aatgttttgc aaagatgctt aaaatgaact ttgtgttaag
     2341 aaaaccactg tgaaactaaa ttgtcctatt attgttggct tacctgtgtg ttcagcaatc
     2401 tcagccccaa ataatgttgt aatttaaaga aaatggaaaa ttctgctcta atgaatgtaa
     2461 caatggcttg ctgtgaagtt tacattgttg tacagaagca tgtttcgcat gtaggtaaac
     2521 tggtggtggt actagaaata caatgttatt taattttaac aaattccctt tattcatttc
     2581 tgaaattaca ggacacagtt taactcataa acctttctag accaatttat ttttcacttt
     2641 aatgttaata acagttgtgg agtatatgtg tgtgtgagca tgtgagtatg tgttgtattt
     2701 taaaacaatt gattttctgg ggcaaaattc tacagttttt aatcccttct gtttaggaag
     2761 ttcttcctgt ttggcaatat aggcttaaaa atatgttttt aggacattgg tacaattcag
     2821 ctgttggaaa attaatatat tgagggtttt ttggtactaa ttctgtgcaa taactaaaag
     2881 agcacctcac tggatatgga tgttgaagat ggattcccta ggtgatttta atttcttccg
     2941 gtctgtgctg tgcacagtct acatggcaat gcggttccac cacatcggtt tcgtggcttc
     3001 gtttaaaact cagatggcta gattagttag gttttcaaat cactaggatg taaacagtaa
     3061 gcagatttct gacacacaaa ttatgttaga gtgactgctt ttttcagaca gcagatatct
     3121 tatagagagc tttgaactgc atttatttct aaagcaaccg aaattcagtg ctacaaatag
     3181 aggattataa cttcaggaga agaataagca gaaggagcag atgaactctc agggccatag
     3241 tcttcctttg atcttgtaaa acttccattg acatctggag ttcccagtct ggtgagaaaa
     3301 tagactataa actgaatgga acaaagatcc aatccaatat tttggtggag acttctttaa
     3361 aaccatacca tacagggact ctcctgtcat ctgaaaaact gatgtaaggt acagaactat
     3421 tctttatcaa atgtttttag gtggctgtta gggggcttta aaaaatatta cttgcttgtg
     3481 tggaaatgca aataatgtta ttttctttat ctaaattaag aaatctcttg ttattgtgct
     3541 atttataatt tttttctggt tcttgtattt taaaaaatct aatattaatg gtattgaagt
     3601 ttccttttct ccctctaggt cttaacagtg aattcacatg gagtaatttt taaaagatat
     3661 cagatacaat ttgctattca aagaaaatta tgatttaaag ccacttttta aaatacgaga
     3721 aggaaaatag gatggattaa agggttaact tttaaagatt attattggtt aatgttgaca
     3781 tatttcctct atctcataga tggtaaaagt gttgctttta aactggcaaa tgcactcttc
     3841 agaaatcctt ttctatctga tccacatgga gaggttaaag gttcaatttc atgacctcta
     3901 tgcaggcagc gctctcattg gatgtaagaa tattacctgc aaggatagaa tgcagttgtg
     3961 caacagagac acattcttat ttcttttttt tcacaatttt gttttgtttt taatgaccct
     4021 tttattgaat attggactga aatataaatt ttaaaaaaca cgttggaaag gatgtacaac
     4081 agaaggctat gtatgtatat acagtatgtc aaaagccttt tatttttata cttcaaatgc
     4141 tctaaattaa taaaaagtaa taatta
//
