LOCUS       NM_181458               3359 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens paired box 3 (PAX3), transcript variant PAX3D, mRNA.
ACCESSION   NM_181458
VERSION     NM_181458.4
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 3359)
  AUTHORS   Macaskill,L., Reali,L. and Naik,S.
  TITLE     Waardenburg syndrome type 1: a case report of a family with a
            intragenic PAX3 deletion with no hearing loss or heterochromia of
            iris
  JOURNAL   Clin Dysmorphol 33 (3), 125-127 (2024)
   PUBMED   38411002
  REMARK    GeneRIF: Waardenburg syndrome type 1: a case report of a family
            with a intragenic PAX3 deletion with no hearing loss or
            heterochromia of iris.
REFERENCE   2  (bases 1 to 3359)
  AUTHORS   Li,S., He,C., Mei,L., Wu,X., Feng,Y. and Song,J.
  TITLE     PAX3 mutation suppress otic progenitors proliferation and induce
            apoptosis by inhibiting WNT1/beta-catenin signaling pathway in WS1
            patient iPSC-derived inner ear organoids
  JOURNAL   Biochem Biophys Res Commun 698, 149510 (2024)
   PUBMED   38278051
  REMARK    GeneRIF: PAX3 mutation suppress otic progenitors proliferation and
            induce apoptosis by inhibiting WNT1/beta-catenin signaling pathway
            in WS1 patient iPSC-derived inner ear organoids.
REFERENCE   3  (bases 1 to 3359)
  AUTHORS   Pan,Q., Liu,X., Xu,C. and Yu,C.
  TITLE     Comparative study on the expression of Pax3, Rad51 and VEGF-C in
            esophageal gastric junction adenocarcinoma and distal gastric
            adenocarcinoma
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (1), 40-45 (2024)
   PUBMED   38372116
  REMARK    GeneRIF: Comparative study on the expression of Pax3, Rad51 and
            VEGF-C in esophageal gastric junction adenocarcinoma and distal
            gastric adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3359)
  AUTHORS   Wang,Q., Kumar,S., Slevin,M. and Kumar,P.
  TITLE     Functional analysis of alternative isoforms of the transcription
            factor PAX3 in melanocytes in vitro
  JOURNAL   Cancer Res 66 (17), 8574-8580 (2006)
   PUBMED   16951170
  REMARK    GeneRIF: Effects of PAX3 isoforms in melanocytes and their
            potential contribution in tumorigenesis in melanoma.
REFERENCE   5  (bases 1 to 3359)
  AUTHORS   Barber,T.D., Barber,M.C., Cloutier,T.E. and Friedman,T.B.
  TITLE     PAX3 gene structure, alternative splicing and evolution
  JOURNAL   Gene 237 (2), 311-319 (1999)
   PUBMED   10521655
REFERENCE   6  (bases 1 to 3359)
  AUTHORS   Okladnova,O., Syagailo,Y.V., Tranitz,M., Riederer,P., Stober,G.,
            Mossner,R. and Lesch,K.P.
  TITLE     Functional characterization of the human PAX3 gene regulatory
            region
  JOURNAL   Genomics 57 (1), 110-119 (1999)
   PUBMED   10191090
REFERENCE   7  (bases 1 to 3359)
  AUTHORS   Milunsky,J.M.
  TITLE     Waardenburg Syndrome Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301703
REFERENCE   8  (bases 1 to 3359)
  AUTHORS   Morell,R., Friedman,T.B., Moeljopawiro,S., Hartono, Soewito and
            Asher,J.H. Jr.
  TITLE     A frameshift mutation in the HuP2 paired domain of the probable
            human homolog of murine Pax-3 is responsible for Waardenburg
            syndrome type 1 in an Indonesian family
  JOURNAL   Hum Mol Genet 1 (4), 243-247 (1992)
   PUBMED   1303193
REFERENCE   9  (bases 1 to 3359)
  AUTHORS   Tassabehji,M., Read,A.P., Newton,V.E., Harris,R., Balling,R.,
            Gruss,P. and Strachan,T.
  TITLE     Waardenburg's syndrome patients have mutations in the human
            homologue of the Pax-3 paired box gene
  JOURNAL   Nature 355 (6361), 635-636 (1992)
   PUBMED   1347148
REFERENCE   10 (bases 1 to 3359)
  AUTHORS   Carezani-Gavin,M., Clarren,S.K. and Steege,T.
  TITLE     Waardenburg syndrome associated with meningomyelocele
  JOURNAL   Am J Med Genet 42 (1), 135-136 (1992)
   PUBMED   1308353
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010980.8, AK291278.1,
            BC101299.3, BC101301.2, AC012591.8 and AI382779.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_181458.3.
            
            Summary: This gene is a member of the paired box (PAX) family of
            transcription factors. Members of the PAX family typically contain
            a paired box domain and a paired-type homeodomain. These genes play
            critical roles during fetal development. Mutations in paired box
            gene 3 are associated with Waardenburg syndrome,
            craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma.
            The translocation t(2;13)(q35;q14), which represents a fusion
            between PAX3 and the forkhead gene, is a frequent finding in
            alveolar rhabdomyosarcoma. Alternative splicing results in
            transcripts encoding isoforms with different C-termini. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (PAX3D) differs in the 3' UTR, and
            contains an alternate splice pattern in the 3' coding region,
            compared to variant PAX3. The resulting protein (isoform PAX3d) is
            longer and has a distinct C-terminus, compared to isoform PAX3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR1803613.258869.1,
                                           SRR1803615.6865.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467150 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392070.7/ ENSP00000375922.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC010980.8         56151-56152         c
            3-511               AK291278.1         1-509
            512-704             BC101299.3         409-601
            705-1886            BC101301.2         602-1783
            1887-3118           AC012591.8         99032-100263        c
            3119-3359           AI382779.1         3-243               c
FEATURES             Location/Qualifiers
     source          1..3359
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.1"
     gene            1..3359
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /note="paired box 3"
                     /db_xref="GeneID:5077"
                     /db_xref="HGNC:HGNC:8617"
                     /db_xref="MIM:606597"
     exon            1..468
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     CDS             384..1838
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /note="isoform PAX3d is encoded by transcript variant
                     PAX3D; paired domain gene 3; paired domain gene HuP2;
                     paired box homeotic gene 3; paired box protein Pax-3;
                     transcriptional factor PAX3"
                     /codon_start=1
                     /product="paired box protein Pax-3 isoform PAX3d"
                     /protein_id="NP_852123.1"
                     /db_xref="CCDS:CCDS42825.1"
                     /db_xref="GeneID:5077"
                     /db_xref="HGNC:HGNC:8617"
                     /db_xref="MIM:606597"
                     /translation="MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGV
                     FINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIG
                     GSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRS
                     KFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRK
                     QRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKLTEARVQVWFSNRRARWRK
                     QAGANQLMAFNHLIPGGFPPTAMPTLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPL
                     PPSTVHQSTIPSNPDSSSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQV
                     MGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSASCSQRLDHMKSLDSLPTSQSYCP
                     PTYSTTGYSMDPVTGYQYGQYGQSAFHYLKPDIA"
     exon            469..704
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     exon            705..834
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     exon            835..969
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1175
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1341
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1556
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1557..1803
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..3359
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2068..2073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /note="hexamer: AATAAA"
     polyA_site      2093
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /note="major polyA site"
     regulatory      2439..2444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /note="hexamer: AATAAA"
     polyA_site      2459
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
     regulatory      3338..3343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /note="hexamer: AATAAA"
     polyA_site      3359
                     /gene="PAX3"
                     /gene_synonym="CDHS; HUP2; PAX-3; WS1; WS3"
                     /note="major polyA site"
ORIGIN      
        1 gcactcggtg tcaccacagg aggagactca ggcaggccgc gctccagcct caccaggctc
       61 cccggctcgc cgtggctctc tgagccccct tttcagggac cccagtcgct ggaacatttg
      121 cccagactcg taccaaactt ttccgccctg ggctcgggat cctggactcc ggggcctccc
      181 cgtcctcccc tttcccgggt tccagctccg gcctctggac taggaaccga cagcccccct
      241 ccccgcgtcc ctccctctct ctccagccgt tttggggagg ggctctccac gctccggata
      301 gttcccgagg gtcatccgcg ccgcactcgc ctttccgttt cgccttcacc tggatataat
      361 ttccgagcga agctgccccc aggatgacca cgctggccgg cgctgtgccc aggatgatgc
      421 ggccgggccc ggggcagaac tacccgcgta gcgggttccc gctggaagtg tccactcccc
      481 tcggccaggg ccgcgtcaac cagctcggcg gtgtttttat caacggcagg ccgctgccca
      541 accacatccg ccacaagatc gtggagatgg cccaccacgg catccggccc tgcgtcatct
      601 cgcgccagct gcgcgtgtcc cacggctgcg tctccaagat cctgtgcagg taccaggaga
      661 ctggctccat acgtcctggt gccatcggcg gcagcaagcc caagcaggtg acaacgcctg
      721 acgtggagaa gaaaattgag gaatacaaaa gagagaaccc gggcatgttc agctgggaaa
      781 tccgagacaa attactcaag gacgcggtct gtgatcgaaa caccgtgccg tcagtgagtt
      841 ccatcagccg catcctgaga agtaaattcg ggaaaggtga agaggaggag gccgacttgg
      901 agaggaagga ggcagaggaa agcgagaaga aggccaaaca cagcatcgac ggcatcctga
      961 gcgagcgagc ctcagcaccc caatcagatg aaggctctga tattgactct gaaccagatt
     1021 taccactaaa gaggaaacag cgcagaagcc gaaccacctt cacagcagaa cagctggagg
     1081 aactggagcg tgcttttgag agaactcatt accctgacat ttatactagg gaggaactgg
     1141 cccagagggc gaagctcacc gaggcccgag tacaggtctg gtttagcaac cgccgtgcaa
     1201 gatggaggaa gcaagctggg gccaatcaac tgatggcttt caaccatctc attcccgggg
     1261 ggttccctcc cactgccatg ccgaccttgc caacgtacca gctgtcggag acctcttacc
     1321 agcccacatc tattccacaa gctgtgtcag atcccagcag caccgttcac agacctcaac
     1381 cgcttcctcc aagcactgta caccaaagca cgattccttc caacccagac agcagctctg
     1441 cctactgcct ccccagcacc aggcatggat tttccagcta tacagacagc tttgtgcctc
     1501 cgtcggggcc ctccaacccc atgaacccca ccattggcaa tggcctctca cctcaggtaa
     1561 tgggactcct gaccaaccac ggtggggtac ctcatcagcc ccagactgat tacgcgctct
     1621 cccctctcac cgggggtctg gaacctacca ccacggtgtc ggccagctgc agtcagagac
     1681 tagaccatat gaagagcttg gacagtctgc caacatctca gtcctactgt ccacccacct
     1741 atagcaccac aggctacagt atggaccctg tcacaggcta ccaatatggg cagtatggac
     1801 aaagtgcctt tcattatctc aagccagata tcgcgtaagt gaactgtcca cttggagcta
     1861 aaactggccc tgtttctggt cttcgcagcc tagatatgaa gaatctgctc tgaaaacaaa
     1921 aaaaaattac ccttttgttg gggggggtgg ggcagtggtc ccaataggag acaaaggaga
     1981 gtgattgatt ttcttcctcc aatagttggt ttcaaatcct tttgaacacg ttcgacaaaa
     2041 gcagtggaga agaggaagac ctggagcaat aaaagacaaa tgcaacattt taaggcaatg
     2101 gtttcacatg gttacatatc aaaacatccc aattctttag tgctgatcat cgaggagcta
     2161 gaacattcca tttgcttgtg tgcgtgcgtg cgtgtgtgtg tgtgtgtgtg tattgagatt
     2221 tacccagact ggtttgggca agcagactgt tctaaaatat aatagaatac cctaaagtat
     2281 aacatgtcga tgttcgatgc tgatacttct acaactttaa aactgctcat ttcatgaagc
     2341 aagaatggag gaatccttga ctcttacaca ctggaaattg aaataaagat aaatgcaacc
     2401 atttttagga agctagacta gctgtaaagg acctcctaaa taaattattt gttactgtat
     2461 cctcatttgt aatctagttg tcaataaatg gcccggacat gtcttgctaa caggatatgg
     2521 gctaccagga agaaggactt gtttcccttt cctgtgtggg gagaggtgtg tgacgttttt
     2581 ccagttcaca tttatttggt agcccacctg ggttggagga agggcacggt ggagagaaag
     2641 tgacatgcat tcacatatct gcttatcagt gtgcaatact gtgtacctca tggatgcttt
     2701 ggcaatgccc aaggcgatat aagcaaaatc agaagtatat ttttgcaggt gcttttattt
     2761 tcacagccca taattcatag tgatagagtg cagtgatgtt tgccatttgc tggacaacca
     2821 acacccgggt tgctcctttg attagagacc agatcagata attatgcttt taaactgatt
     2881 acgtttacat tcttctcttt tctatgaaag gcagggcaag aacagaagtg ttcacatggc
     2941 tctcatgtac ttttaaatta tacaatgata tccaatatta aaagattata ggaactgagg
     3001 tttacatacg tttgtgtggt gacattttag aatgtcaata aatttgcttt ttgagatgtt
     3061 gagaggaaca agaaggtgga aggcagtgtt atttatttct ttctattctt ggaaccacga
     3121 atgaggtagg cacaaataca ttccttttag agttaagaac tatgacgtag cgagttagtg
     3181 agactagaca tagtaccgaa tttagttcat gcattggtct tagagggtga tggaacaaga
     3241 gaagtactat ctttgtgttg cagcctcaac caacaacaat gtgttgtaaa aatgtctttc
     3301 atgtaaaaag tgcagtaaat atttactatt tataatgaat aaacagttat gaaaacttg
//
