LOCUS       NM_001368910            2844 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens paired box 6 (PAX6), transcript variant 31, mRNA.
ACCESSION   NM_001368910
VERSION     NM_001368910.2
KEYWORDS    RefSeq.
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 2844)
  AUTHORS   Abbasi,M., Amini,M., Moustardas,P., Gutsmiedl,Q., Javidjam,D.,
            Suiwal,S., Seitz,B., Fries,F.N., Dashti,A., Rautavaara,Y.,
            Stachon,T., Szentmary,N. and Lagali,N.
  TITLE     Effects of miR-204-5p modulation on PAX6 regulation and corneal
            inflammation
  JOURNAL   Sci Rep 14 (1), 26436 (2024)
   PUBMED   39488562
  REMARK    GeneRIF: Effects of miR-204-5p modulation on PAX6 regulation and
            corneal inflammation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2844)
  AUTHORS   Zhang,Y., Yamada,Y., Fan,M., Bangaru,S.D., Lin,B. and Yang,J.
  TITLE     The beta subunit of voltage-gated Ca2+ channels interacts with and
            regulates the activity of a novel isoform of Pax6
  JOURNAL   J Biol Chem 285 (4), 2527-2536 (2010)
   PUBMED   19917615
  REMARK    GeneRIF: in the presence of Pax6(S), calcium channel beta(3)
            subunit is translocated from the cytoplasm to the nucleus
REFERENCE   3  (bases 1 to 2844)
  AUTHORS   Osumi,N., Shinohara,H., Numayama-Tsuruta,K. and Maekawa,M.
  TITLE     Concise review: Pax6 transcription factor contributes to both
            embryonic and adult neurogenesis as a multifunctional regulator
  JOURNAL   Stem Cells 26 (7), 1663-1672 (2008)
   PUBMED   18467663
  REMARK    GeneRIF: Pax6 is a multifunctional player regulating proliferation
            and differentiation through the control of expression of different
            downstream molecules in a highly context-dependent manner [review]
            Review article
REFERENCE   4  (bases 1 to 2844)
  AUTHORS   Okladnova,O., Syagailo,Y.V., Mossner,R., Riederer,P. and Lesch,K.P.
  TITLE     Regulation of PAX-6 gene transcription: alternate promoter usage in
            human brain
  JOURNAL   Brain Res Mol Brain Res 60 (2), 177-192 (1998)
   PUBMED   9757029
REFERENCE   5  (bases 1 to 2844)
  AUTHORS   Epstein,J.A., Glaser,T., Cai,J., Jepeal,L., Walton,D.S. and
            Maas,R.L.
  TITLE     Two independent and interactive DNA-binding subdomains of the Pax6
            paired domain are regulated by alternative splicing
  JOURNAL   Genes Dev 8 (17), 2022-2034 (1994)
   PUBMED   7958875
REFERENCE   6  (bases 1 to 2844)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   7  (bases 1 to 2844)
  AUTHORS   Moosajee,M., Hingorani,M. and Moore,A.T.
  TITLE     PAX6-Related Aniridia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301534
REFERENCE   8  (bases 1 to 2844)
  AUTHORS   Glaser,T., Walton,D.S. and Maas,R.L.
  TITLE     Genomic structure, evolutionary conservation and aniridia mutations
            in the human PAX6 gene
  JOURNAL   Nat Genet 2 (3), 232-239 (1992)
   PUBMED   1345175
REFERENCE   9  (bases 1 to 2844)
  AUTHORS   Jordan,T., Hanson,I., Zaletayev,D., Hodgson,S., Prosser,J.,
            Seawright,A., Hastie,N. and van Heyningen,V.
  TITLE     The human PAX6 gene is mutated in two patients with aniridia
  JOURNAL   Nat Genet 1 (5), 328-332 (1992)
   PUBMED   1302030
REFERENCE   10 (bases 1 to 2844)
  AUTHORS   Ton,C.C., Hirvonen,H., Miwa,H., Weil,M.M., Monaghan,P., Jordan,T.,
            van Heyningen,V., Hastie,N.D., Meijers-Heijboer,H., Drechsler,M. et
            al.
  TITLE     Positional cloning and characterization of a paired box- and
            homeobox-containing gene from the aniridia region
  JOURNAL   Cell 67 (6), 1059-1074 (1991)
   PUBMED   1684738
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z95332.1 and Z83307.1.
            
            On May 21, 2020 this sequence version replaced NM_001368910.1.
            
            Summary: This gene encodes paired box protein Pax-6, one of many
            human homologs of the Drosophila melanogaster gene prd. In addition
            to a conserved paired box domain, a hallmark feature of this gene
            family, the encoded protein also contains a homeobox domain. Both
            domains are known to bind DNA and function as regulators of gene
            transcription. Activity of this protein is key in the development
            of neural tissues, particularly the eye. This gene is regulated by
            multiple enhancers located up to hundreds of kilobases distant from
            this locus. Mutations in this gene or in the enhancer regions can
            cause ocular disorders such as aniridia and Peter's anomaly. Use of
            alternate promoters and alternative splicing results in multiple
            transcript variants encoding different isoforms. Interestingly,
            inclusion of a particular alternate coding exon has been shown to
            increase the length of the paired box domain and alter its DNA
            binding specificity. Consequently, isoforms that carry the shorter
            paired box domain regulate a different set of genes compared to the
            isoforms carrying the longer paired box domain. [provided by
            RefSeq, Mar 2019].
            
            Transcript Variant: This variant (31) encodes the longest isoform
            (e).
            
            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 :: SRR1803612.31863.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-208               Z95332.1           13662-13869
            209-396             Z95332.1           13969-14156
            397-473             Z95332.1           18059-18135
            474-534             Z95332.1           18522-18582
            535-677             Z83307.1           488-630
            678-808             Z83307.1           1380-1510
            809-1024            Z83307.1           2438-2653
            1025-1190           Z83307.1           3358-3523
            1191-1349           Z83307.1           9426-9584
            1350-1432           Z83307.1           10100-10182
            1433-1583           Z83307.1           10412-10562
            1584-1699           Z83307.1           10661-10776
            1700-1850           Z83307.1           13354-13504
            1851-2844           Z83307.1           14195-15188
FEATURES             Location/Qualifiers
     source          1..2844
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..2844
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="paired box 6"
                     /db_xref="GeneID:5080"
                     /db_xref="HGNC:HGNC:8620"
                     /db_xref="MIM:607108"
     exon            1..208
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            209..396
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            397..473
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     CDS             425..1936
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="isoform e is encoded by transcript variant 31;
                     paired box homeotic gene-6; Aniridia 1; alternative
                     protein PAX6; paired box 6 PAX6D isoform; oculorhombin;
                     aniridia type II protein; Aniridia 2; paired box 6
                     PAX6A-ASdel6-AS7 isoform; paired box 6 PAX6A-del6 isoform;
                     paired box 6 PAX6A-ASdel6 isoform; paired box 6
                     PAX6B-ASdel6 isoform; paired box 6 PAX6-12a isoform"
                     /codon_start=1
                     /product="paired box protein Pax-6 isoform e"
                     /protein_id="NP_001355839.1"
                     /db_xref="GeneID:5080"
                     /db_xref="HGNC:HGNC:8620"
                     /db_xref="MIM:607108"
                     /translation="MCEAFYCESGQTSEISEPHIRAPWNPAAPSQSQHAEQGGRSSAA
                     EIKRAVAGANRLPALSLTCGGRTCLWLKPSPGSDSHVCTGGHSGVNQLGGVFVNGRPL
                     PDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVA
                     TPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQM
                     GADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGE
                     DSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEAR
                     IQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTS
                     GSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSY
                     DTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ"
     exon            474..534
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            535..677
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            678..808
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            809..1024
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1190
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1349
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1432
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1583
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1584..1699
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1850
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1851..2844
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2818..2823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="hexamer: ATTAAA"
     polyA_site      2844
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="major polyA site"
ORIGIN      
        1 gcatgttgcg gagtgattag tgggtttgaa aagggaaccg tggctcggcc tcatttcccg
       61 ctctggttca ggcgcaggag gaagtgtttt gctggaggat gatgacagag gtcaggcttc
      121 gctaatgggc cagtgaggag cggtggaggc gaggccgggc gccggcacac acacattaac
      181 acacttgagc catcaccaat cagcatagga atctgagaat tgctctcaca caccaaccca
      241 gcaacatccg tggagaaaac tctcaccagc aactccttta aaacaccgtc atttcaaacc
      301 attgtggtct tcaagcaaca acagcagcac aaaaaacccc aaccaaacaa aactcttgac
      361 agaagctgtg acaaccagaa aggatgcctc ataaaggggg aagactttaa ctaggggcgc
      421 gcagatgtgt gaggcctttt attgtgagag tggacagaca tccgagattt cagagcccca
      481 tattcgagcc ccgtggaatc ccgcggcccc cagccagagc cagcatgcag aacagggagg
      541 gcggagttca gcggcggaaa taaagcgagc agtggctggt gcgaaccgac tcccggctct
      601 aagccttact tgcggtggcc ggacttgtct gtggctgaag ccgagcccgg gctctgactc
      661 tcacgtctgc actggaggtc acagcggagt gaatcagctc ggtggtgtct ttgtcaacgg
      721 gcggccactg ccggactcca cccggcagaa gattgtagag ctagctcaca gcggggcccg
      781 gccgtgcgac atttcccgaa ttctgcaggt gtccaacgga tgtgtgagta aaattctggg
      841 caggtattac gagactggct ccatcagacc cagggcaatc ggtggtagta aaccgagagt
      901 agcgactcca gaagttgtaa gcaaaatagc ccagtataag cgggagtgcc cgtccatctt
      961 tgcttgggaa atccgagaca gattactgtc cgagggggtc tgtaccaacg ataacatacc
     1021 aagcgtgtca tcaataaaca gagttcttcg caacctggct agcgaaaagc aacagatggg
     1081 cgcagacggc atgtatgata aactaaggat gttgaacggg cagaccggaa gctggggcac
     1141 ccgccctggt tggtatccgg ggacttcggt gccagggcaa cctacgcaag atggctgcca
     1201 gcaacaggaa ggagggggag agaataccaa ctccatcagt tccaacggag aagattcaga
     1261 tgaggctcaa atgcgacttc agctgaagcg gaagctgcaa agaaatagaa catcctttac
     1321 ccaagagcaa attgaggccc tggagaaaga gtttgagaga acccattatc cagatgtgtt
     1381 tgcccgagaa agactagcag ccaaaataga tctacctgaa gcaagaatac aggtatggtt
     1441 ttctaatcga agggccaaat ggagaagaga agaaaaactg aggaatcaga gaagacaggc
     1501 cagcaacaca cctagtcata ttcctatcag cagtagtttc agcaccagtg tctaccaacc
     1561 aattccacaa cccaccacac cggtttcctc cttcacatct ggctccatgt tgggccgaac
     1621 agacacagcc ctcacaaaca cctacagcgc tctgccgcct atgcccagct tcaccatggc
     1681 aaataacctg cctatgcaac ccccagtccc cagccagacc tcctcatact cctgcatgct
     1741 gcccaccagc ccttcggtga atgggcggag ttatgatacc tacacccccc cacatatgca
     1801 gacacacatg aacagtcagc caatgggcac ctcgggcacc acttcaacag gactcatttc
     1861 ccctggtgtg tcagttccag ttcaagttcc cggaagtgaa cctgatatgt ctcaatactg
     1921 gccaagatta cagtaaaaaa aaaaaaaaaa aaaaaaagga aaggaaatat tgtgttaatt
     1981 cagtcagtga ctatggggac acaacagttg agctttcagg aaagaaagaa aaatggctgt
     2041 tagagccgct tcagttctac aattgtgtcc tgtattgtac cactggggaa ggaatggact
     2101 tgaaacaagg acctttgtat acagaaggca cgatatcagt tggaacaaat cttcattttg
     2161 gtatccaaac ttttattcat tttggtgtat tatttgtaaa tgggcatttg tatgttataa
     2221 tgaaaaaaag aacaatgtag actggatgga tgtttgatct gtgttggtca tgaagttgtt
     2281 tttttttttt ttaaaaagaa aaccatgatc aacaagcttt gccacgaatt taagagtttt
     2341 atcaagatat atcgaatact tctacccatc tgttcatagt ttatggactg atgttccaag
     2401 tttgtatcat tcctttgcat ataattaaac ctggaacaac atgcactaga tttatgtcag
     2461 aaatatctgt tggttttcca aaggttgtta acagatgaag tttatgtgca aaaaagggta
     2521 agatataaat tcaaggaaga aaaaaagttg atagctaaaa ggtagagtgt gtcttcgata
     2581 taatccaatt tgttttatgt caaaatgtaa gtatttgtct tccctagaaa tcctcagaat
     2641 gatttctata ataaagttaa tttcatttat atttgacaag aatatagatg ttttatacac
     2701 attttcatgc aatcatacgt ttcttttttg gccagcaaaa gttaattgtt cttagatata
     2761 gttgtattac tgttcacggt ccaatcattt tgtgcatcta gagttcattc ctaatcaatt
     2821 aaaagtgctt gcaagagttt taaa
//
