LOCUS       NM_001368894            2743 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens paired box 6 (PAX6), transcript variant 19, mRNA.
ACCESSION   NM_001368894
VERSION     NM_001368894.2
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 2743)
  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 2743)
  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 2743)
  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 2743)
  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 2743)
  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 2743)
  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 2743)
  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 2743)
  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 2743)
  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 2743)
  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 1, 2020 this sequence version replaced NM_001368894.1.
            
            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 (19), as well as variants 2, 4, 5,
            8, 17, and 18, encodes isoform b.
            
            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 :: SRR14372079.257008.1,
                                           SRR1803617.73055.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000640368.2/ ENSP00000492024.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-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
            535-665             Z83307.1           1380-1510
            666-707             Z83307.1           2302-2343
            708-923             Z83307.1           2438-2653
            924-1089            Z83307.1           3358-3523
            1090-1248           Z83307.1           9426-9584
            1249-1331           Z83307.1           10100-10182
            1332-1482           Z83307.1           10412-10562
            1483-1598           Z83307.1           10661-10776
            1599-1749           Z83307.1           13354-13504
            1750-2743           Z83307.1           14195-15188
FEATURES             Location/Qualifiers
     source          1..2743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..2743
                     /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"
     exon            474..534
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     CDS             525..1835
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="isoform b is encoded by transcript variant 19;
                     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 b"
                     /protein_id="NP_001355823.1"
                     /db_xref="CCDS:CCDS31452.1"
                     /db_xref="GeneID:5080"
                     /db_xref="HGNC:HGNC:8620"
                     /db_xref="MIM:607108"
                     /translation="MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISR
                     ILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIA
                     QYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
                     RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRL
                     QLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRR
                     AKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
                     ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQ
                     THMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ"
     exon            535..665
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            666..707
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            708..923
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1089
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1248
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1331
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1482
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1598
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1749
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..2743
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2717..2722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX6"
                     /gene_synonym="AN; AN1; AN2; ASGD5; D11S812E; FVH1; MGDA;
                     WAGR"
                     /note="hexamer: ATTAAA"
     polyA_site      2743
                     /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 aacagtcaca
      541 gcggagtgaa tcagctcggt ggtgtctttg tcaacgggcg gccactgccg gactccaccc
      601 ggcagaagat tgtagagcta gctcacagcg gggcccggcc gtgcgacatt tcccgaattc
      661 tgcagaccca tgcagatgca aaagtccaag tgctggacaa tcaaaacgtg tccaacggat
      721 gtgtgagtaa aattctgggc aggtattacg agactggctc catcagaccc agggcaatcg
      781 gtggtagtaa accgagagta gcgactccag aagttgtaag caaaatagcc cagtataagc
      841 gggagtgccc gtccatcttt gcttgggaaa tccgagacag attactgtcc gagggggtct
      901 gtaccaacga taacatacca agcgtgtcat caataaacag agttcttcgc aacctggcta
      961 gcgaaaagca acagatgggc gcagacggca tgtatgataa actaaggatg ttgaacgggc
     1021 agaccggaag ctggggcacc cgccctggtt ggtatccggg gacttcggtg ccagggcaac
     1081 ctacgcaaga tggctgccag caacaggaag gagggggaga gaataccaac tccatcagtt
     1141 ccaacggaga agattcagat gaggctcaaa tgcgacttca gctgaagcgg aagctgcaaa
     1201 gaaatagaac atcctttacc caagagcaaa ttgaggccct ggagaaagag tttgagagaa
     1261 cccattatcc agatgtgttt gcccgagaaa gactagcagc caaaatagat ctacctgaag
     1321 caagaataca ggtatggttt tctaatcgaa gggccaaatg gagaagagaa gaaaaactga
     1381 ggaatcagag aagacaggcc agcaacacac ctagtcatat tcctatcagc agtagtttca
     1441 gcaccagtgt ctaccaacca attccacaac ccaccacacc ggtttcctcc ttcacatctg
     1501 gctccatgtt gggccgaaca gacacagccc tcacaaacac ctacagcgct ctgccgccta
     1561 tgcccagctt caccatggca aataacctgc ctatgcaacc cccagtcccc agccagacct
     1621 cctcatactc ctgcatgctg cccaccagcc cttcggtgaa tgggcggagt tatgatacct
     1681 acaccccccc acatatgcag acacacatga acagtcagcc aatgggcacc tcgggcacca
     1741 cttcaacagg actcatttcc cctggtgtgt cagttccagt tcaagttccc ggaagtgaac
     1801 ctgatatgtc tcaatactgg ccaagattac agtaaaaaaa aaaaaaaaaa aaaaaaggaa
     1861 aggaaatatt gtgttaattc agtcagtgac tatggggaca caacagttga gctttcagga
     1921 aagaaagaaa aatggctgtt agagccgctt cagttctaca attgtgtcct gtattgtacc
     1981 actggggaag gaatggactt gaaacaagga cctttgtata cagaaggcac gatatcagtt
     2041 ggaacaaatc ttcattttgg tatccaaact tttattcatt ttggtgtatt atttgtaaat
     2101 gggcatttgt atgttataat gaaaaaaaga acaatgtaga ctggatggat gtttgatctg
     2161 tgttggtcat gaagttgttt tttttttttt taaaaagaaa accatgatca acaagctttg
     2221 ccacgaattt aagagtttta tcaagatata tcgaatactt ctacccatct gttcatagtt
     2281 tatggactga tgttccaagt ttgtatcatt cctttgcata taattaaacc tggaacaaca
     2341 tgcactagat ttatgtcaga aatatctgtt ggttttccaa aggttgttaa cagatgaagt
     2401 ttatgtgcaa aaaagggtaa gatataaatt caaggaagaa aaaaagttga tagctaaaag
     2461 gtagagtgtg tcttcgatat aatccaattt gttttatgtc aaaatgtaag tatttgtctt
     2521 ccctagaaat cctcagaatg atttctataa taaagttaat ttcatttata tttgacaaga
     2581 atatagatgt tttatacaca ttttcatgca atcatacgtt tcttttttgg ccagcaaaag
     2641 ttaattgttc ttagatatag ttgtattact gttcacggtc caatcatttt gtgcatctag
     2701 agttcattcc taatcaatta aaagtgcttg caagagtttt aaa
//
