LOCUS       HUMOCLHMB               1643 bp    mRNA    linear   HUM 29-MAR-2010
DEFINITION  Homo sapiens oculorhombin (PAX6) mRNA, complete cds, alternatively
            spliced.
ACCESSION   M77844
VERSION     M77844.1
KEYWORDS    DNA-binding protein; homeobox protein; iris hypoplasia;
            oculorhombin; paired box; retinal abnormalities; transcription
            factor.
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 1643)
  AUTHORS   Ton,C.C.T., Hirvonen,H., Miwa,H., Well,M.M., Monaghan,P.,
            Jordan,T., van Heyningen,V., Hastle,N.D., Meijers-Heijboer,H.,
            Drechsler,M., Royer-Pokora,B., Collins,F.S., Swaroop,A.,
            Strong,L.C. and Saunders,G.F.
  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
FEATURES             Location/Qualifiers
     source          1..1643
                     /db_xref="H-InvDB:HIT000196418"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /map="11 p13"
                     /tissue_type="eye"
                     /dev_stage="fetal"
     gene            1..1643
                     /gene="PAX6"
                     /gene_synonym="aniridia"
     CDS             363..1631
                     /gene="PAX6"
                     /gene_synonym="aniridia"
                     /codon_start=1
                     /product="oculorhombin"
                     /protein_id="AAA59962.1"
                     /translation="MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISR
                     ILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEI
                     RDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
                     GWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFT
                     QEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRR
                     QASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGLTDTALTNTYSALPPMPS
                     FTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTT
                     STGLISPGVSVPVQVPGSEPDMSQYWPRLQ"
     misc_feature    435..686
                     /gene="PAX6"
                     /gene_synonym="aniridia"
                     /note="Region: paired box"
     misc_feature    1017..1166
                     /gene="PAX6"
                     /gene_synonym="aniridia"
                     /note="Region: homeobox"
BASE COUNT          487 a          444 c          388 g          324 t
ORIGIN      
        1 tatcgataag tttttttttt attgtcaatc tctgtctcct tcccaggaat ctgaggattg
       61 ctcttacaca ccaacccagc aacatccgtg gagaaaactc tcaccagcaa ctcctttaaa
      121 acaccgtcat ttcaaaccat tgtggtcttc aagcaacaac agcagcacaa aaaaccccaa
      181 ccaaacaaaa ctcttgacag aagctgtgac aaccagaaag gatgcctcat aaagggggaa
      241 gactttaact aggggcgcgc agatgtgtga ggccttttat tgtgagagtg gacagacatc
      301 cgagatttca gagccccata ttcgagcccc gtggaatccc gcggccccca gccagagcca
      361 gcatgcagaa cagtcacagc ggagtgaatc agctcggtgg tgtctttgtc aacgggcggc
      421 cactgccgga ctccacccgg cagaagattg tagagctagc tcacagcggg gcccggccgt
      481 gcgacatttc ccgaattctg caggtgtcca acggatgtgt gagtaaaatt ctgggcaggt
      541 attacgagac tggctccatc agacccaggg caatcggtgg tagtaaaccg agagtagcga
      601 ctccagaagt tgtaagcaaa atagcccagt ataagcggga gtgcccgtcc atctttgctt
      661 gggaaatccg agacagatta ctgtccgagg gggtctgtac caacgataac ataccaagcg
      721 tgtcatcaat aaacagagtt cttcgcaacc tggctagcga aaagcaacag atgggcgcag
      781 acggcatgta tgataaacta aggatgttga acgggcagac cggaagctgg ggcacccgcc
      841 ctggttggta tccggggact tcggtgccag ggcaacctac gcaagatggc tgccagcaac
      901 aggaaggagg gggagagaat accaactcca tcagttccaa cggagaagat tcagatgagg
      961 ctcaaatgcg acttcagctg aagcggaagc tgcaaagaaa tagaacatcc tttacccaag
     1021 agcaaattga ggccctggag aaagagtttg agagaaccca ttatccagat gtgtttgccc
     1081 gagaaagact agcagccaaa atagatctac ctgaagcaag aatacaggta tggttttcta
     1141 atcgaagggc caaatggaga agagaagaaa aactgaggaa tcagagaaga caggccagca
     1201 acacacctag tcatattcct atcagcagta gtttcagcac cagtgtctac caaccaattc
     1261 cacaacccac cacaccggtt tcctccttca catctggctc catgttgggc ctaacagaca
     1321 cagccctcac aaacacctac agcgctctgc cgcctatgcc cagcttcacc atggcaaata
     1381 acctgcctat gcaaccccca gtccccagcc agacctcctc atactcctgc atgctgccca
     1441 ccagcccttc ggtgaatggg cggagttatg atacctacac ccccccacat atgcagacac
     1501 acatgaacag tcagccaatg ggcacctcgg gcaccacttc aacaggactc atttcccctg
     1561 gtgtgtcagt tccagttcaa gttcccggaa gtgaacctga tatgtctcaa tactggccaa
     1621 gattacagta aaaaaaaaaa aaa
//