LOCUS       NM_001310160            3765 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens paired box 6 (PAX6), transcript variant 10, mRNA.
ACCESSION   NM_001310160
VERSION     NM_001310160.2
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 3765)
  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 3765)
  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 3765)
  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 3765)
  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 3765)
  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 3765)
  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 3765)
  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 3765)
  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 3765)
  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 3765)
  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 DA089215.1, CA397106.1,
            AK094249.1, DA056636.1 and Z83307.1.
            
            On May 21, 2020 this sequence version replaced NM_001310160.1.
            
            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 (10) initiates from the P alpha
            promoter and contains multiple differences in the 5' region,
            compared to variant 1. The encoded isoform (d) has a shorter
            N-terminus and lacks the paired domain, compared to isoform a.
            Variants 10, 11, and 20-30 all encode the same isoform (d).
            
            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 :: AK094249.1, SRR1803614.1636.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DA089215.1         179-203
            26-90               CA397106.1         1-65
            91-406              AK094249.1         78-393
            407-922             DA056636.1         1-516
            923-951             AK094249.1         910-938
            952-2855            AK094249.1         940-2843
            2856-3765           Z83307.1           14279-15188
FEATURES             Location/Qualifiers
     source          1..3765
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..3765
                     /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..1356
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1398
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1945
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1946..2111
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     CDS             1997..2857
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="isoform d is encoded by transcript variant 10;
                     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 d"
                     /protein_id="NP_001297089.1"
                     /db_xref="CCDS:CCDS86189.1"
                     /db_xref="GeneID:5080"
                     /db_xref="HGNC:HGNC:8620"
                     /db_xref="MIM:607108"
                     /translation="MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
                     EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVF
                     ARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
                     QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSY
                     SCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEP
                     DMSQYWPRLQ"
     exon            2112..2270
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            2271..2353
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            2354..2504
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            2505..2620
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            2621..2771
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            2772..3765
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3739..3744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="hexamer: ATTAAA"
     polyA_site      3765
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="major polyA site"
ORIGIN      
        1 gcgtcaattt atcagtaggc tccaaggaga agagaggaga ggagaggaga gctgaacagg
       61 gagccacgtc ttttcctggg agggctgcta tctaagtcgg ggctgcaggt tggagatttt
      121 taaggaagtg gaaattggca attggctttg tgtgtctgtg gtttttgggg agggggacta
      181 caaagagggg ctaactccct ctccctattc tctaaggttg gaccacaggg atgaggttgt
      241 gagatacaaa gataaaggag ggatggggaa cactatgatg tggtattttt cttttctgtt
      301 ttttcttttt gataatatct atccttggct aaggggaggg cggagttcag cggcggaaat
      361 aaagcgagca gtggctggtg cgaaccgact cccggctcta agccttactt gcggtggccg
      421 gacttgtctg tggctgaagc cgagcccggg ctctgactct cacgtctgca ctggaggtgc
      481 ggaaacctgg actggggttc accagccaca tactggctgc tctggttgtt ctctcctctt
      541 ccttcttcta ttctaaccaa acaaaaccca actcgatgct tgtgccaggc cttggccagt
      601 ttggacggtg atggaaacat ttctggattt tagcgtctaa gggagcactc aagggctgta
      661 aggtttgcta tcactgtccc aacactgcag agaccttgaa ggttcagtgt gggatctgta
      721 gaacccatgg tttgcggtga cactcagagg ggatctttgg gagatttata gagccggttc
      781 ttagcgcttt gtgggttcag aggctggctg cagtgtttat gaagaggggc agtgggctgg
      841 ggacactgct ggggttatgg ctgtagtgag gtccatgtgt acttgttcct tggcatgtgt
      901 ctgactctgt gttgctgctg cagtacagtg ggcaggggca cggttgcttg gactgggctg
      961 cccgatgtct ggcatggctg gtggtcctgt tgtcctttat ttgatcgata gcagggaact
     1021 gaccgccgag gttggcacag gttggcaggg ggatgaggat gcattgtggt tgtctcctcc
     1081 tcctctcctt cttcctcttc cccttcctcc tctcctttct gttcttgttc tccctcatct
     1141 tcctcttcct tcttctccct cttcttcctc ttcactctgc tctcttctct tcttttcccc
     1201 tttcctctcc tctccctttc ctcaggtcac agcggagtga atcagctcgg tggtgtcttt
     1261 gtcaacgggc ggccactgcc ggactccacc cggcagaaga ttgtagagct agctcacagc
     1321 ggggcccggc cgtgcgacat ttcccgaatt ctgcagaccc atgcagatgc aaaagtccaa
     1381 gtgctggaca atcaaaacgt gtccaacgga tgtgtgagta aaattctggg caggtattac
     1441 gagactggct ccatcagacc cagggcaatc ggtggtagta aaccgagagt agcgactcca
     1501 gaagttgtaa gcaaaatagc ccagtataag cgggagtgcc cgtccatctt tgcttgggaa
     1561 atccgagaca gattactgtc cgagggggtc tgtaccaacg ataacatacc aagcgtaagt
     1621 tcattgagaa catctgccct ccctgcccta agcccaatgc tctctcctct ttacctcctc
     1681 ccaccctctc tctccactgt ctcttagtct gtgtcctctc cctgctccac atttgtctcc
     1741 tttgtacctg ggggaacaga gaggaatgcc ctgacttttc tttgactgtc tggaaaatgg
     1801 gagtcaagtg tggggagtca ttcacttcat ttgcatgctg caaaacagag ggcggaggca
     1861 ccagggaaag gcacttgaat gaagaaggaa aatgagaacc agattgtaac ttcgtcctaa
     1921 tccacctgcc agaactttcc ttcaggtgtc atcaataaac agagttcttc gcaacctggc
     1981 tagcgaaaag caacagatgg gcgcagacgg catgtatgat aaactaagga tgttgaacgg
     2041 gcagaccgga agctggggca cccgccctgg ttggtatccg gggacttcgg tgccagggca
     2101 acctacgcaa gatggctgcc agcaacagga aggaggggga gagaatacca actccatcag
     2161 ttccaacgga gaagattcag atgaggctca aatgcgactt cagctgaagc ggaagctgca
     2221 aagaaataga acatccttta cccaagagca aattgaggcc ctggagaaag agtttgagag
     2281 aacccattat ccagatgtgt ttgcccgaga aagactagca gccaaaatag atctacctga
     2341 agcaagaata caggtatggt tttctaatcg aagggccaaa tggagaagag aagaaaaact
     2401 gaggaatcag agaagacagg ccagcaacac acctagtcat attcctatca gcagtagttt
     2461 cagcaccagt gtctaccaac caattccaca acccaccaca ccggtttcct ccttcacatc
     2521 tggctccatg ttgggccgaa cagacacagc cctcacaaac acctacagcg ctctgccgcc
     2581 tatgcccagc ttcaccatgg caaataacct gcctatgcaa cccccagtcc ccagccagac
     2641 ctcctcatac tcctgcatgc tgcccaccag cccttcggtg aatgggcgga gttatgatac
     2701 ctacaccccc ccacatatgc agacacacat gaacagtcag ccaatgggca cctcgggcac
     2761 cacttcaaca ggactcattt cccctggtgt gtcagttcca gttcaagttc ccggaagtga
     2821 acctgatatg tctcaatact ggccaagatt acagtaaaaa aaaaaaaaaa aaaaaaaagg
     2881 aaaggaaata ttgtgttaat tcagtcagtg actatgggga cacaacagtt gagctttcag
     2941 gaaagaaaga aaaatggctg ttagagccgc ttcagttcta caattgtgtc ctgtattgta
     3001 ccactgggga aggaatggac ttgaaacaag gacctttgta tacagaaggc acgatatcag
     3061 ttggaacaaa tcttcatttt ggtatccaaa cttttattca ttttggtgta ttatttgtaa
     3121 atgggcattt gtatgttata atgaaaaaaa gaacaatgta gactggatgg atgtttgatc
     3181 tgtgttggtc atgaagttgt tttttttttt tttaaaaaga aaaccatgat caacaagctt
     3241 tgccacgaat ttaagagttt tatcaagata tatcgaatac ttctacccat ctgttcatag
     3301 tttatggact gatgttccaa gtttgtatca ttcctttgca tataattaaa cctggaacaa
     3361 catgcactag atttatgtca gaaatatctg ttggttttcc aaaggttgtt aacagatgaa
     3421 gtttatgtgc aaaaaagggt aagatataaa ttcaaggaag aaaaaaagtt gatagctaaa
     3481 aggtagagtg tgtcttcgat ataatccaat ttgttttatg tcaaaatgta agtatttgtc
     3541 ttccctagaa atcctcagaa tgatttctat aataaagtta atttcattta tatttgacaa
     3601 gaatatagat gttttataca cattttcatg caatcatacg tttctttttt ggccagcaaa
     3661 agttaattgt tcttagatat agttgtatta ctgttcacgg tccaatcatt ttgtgcatct
     3721 agagttcatt cctaatcaat taaaagtgct tgcaagagtt ttaaa
//
