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2024-03-29 14:59:26, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001258463            6863 bp    mRNA    linear   PRI 17-JUN-2013
DEFINITION  Homo sapiens paired box 6 (PAX6), transcript variant 5, mRNA.
ACCESSION   NM_001258463
VERSION     NM_001258463.1  GI:386642912
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 6863)
  AUTHORS   Hergott-Faure,L., Borot,S., Kleinclauss,C., Abitbol,M. and
            Penfornis,A.
  TITLE     Pituitary function and glucose tolerance in a family with a PAX6
            mutation
  JOURNAL   Ann. Endocrinol. (Paris) 73 (6), 510-514 (2012)
   PUBMED   23146210
  REMARK    GeneRIF: The first complete pituitary function assessment, together
            with glucose tolerance evaluations, in five related patients with a
            PAX6 mutation.
REFERENCE   2  (bases 1 to 6863)
  AUTHORS   Saffra,N., Agarwal,S., Chiang,J.P., Masini,R. and Bertolucci,A.
  TITLE     Spectral-domain optical coherence tomographic characteristics of
            autosomal recessive isolated foveal hypoplasia
  JOURNAL   Arch. Ophthalmol. 130 (10), 1324-1327 (2012)
   PUBMED   23044950
  REMARK    GeneRIF: Herein, we report the first case series to describe the
            foveal characteristics on SD-OCT imaging of 5 affected individuals
            in a single family affected with autosomal recessive isolated
            foveal hypoplasia with an absent PAX6 mutation.
REFERENCE   3  (bases 1 to 6863)
  AUTHORS   Wang,P., Sun,W., Li,S., Xiao,X., Guo,X. and Zhang,Q.
  TITLE     PAX6 mutations identified in 4 of 35 families with microcornea
  JOURNAL   Invest. Ophthalmol. Vis. Sci. 53 (10), 6338-6342 (2012)
   PUBMED   22893676
  REMARK    GeneRIF: We identified two novel and a known mutation of PAX6 in
            four probands with microcornea.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6863)
  AUTHORS   Miyake,M., Yamashiro,K., Nakanishi,H., Nakata,I.,
            Akagi-Kurashige,Y., Tsujikawa,A., Moriyama,M., Ohno-Matsui,K.,
            Mochizuki,M., Yamada,R., Matsuda,F. and Yoshimura,N.
  TITLE     Association of paired box 6 with high myopia in Japanese
  JOURNAL   Mol. Vis. 18, 2726-2735 (2012)
   PUBMED   23213273
  REMARK    GeneRIF: A significant association of PAX6 with high and extreme
            myopia has been found in Japanese patients. The A allele of
            rs644242 is a protective allele.
REFERENCE   5  (bases 1 to 6863)
  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   6  (bases 1 to 6863)
  AUTHORS   Azuma,N., Yamaguchi,Y., Handa,H., Hayakawa,M., Kanai,A. and
            Yamada,M.
  TITLE     Missense mutation in the alternative splice region of the PAX6 gene
            in eye anomalies
  JOURNAL   Am. J. Hum. Genet. 65 (3), 656-663 (1999)
   PUBMED   10441571
REFERENCE   7  (bases 1 to 6863)
  AUTHORS   Prosser,J. and van Heyningen,V.
  TITLE     PAX6 mutations reviewed
  JOURNAL   Hum. Mutat. 11 (2), 93-108 (1998)
   PUBMED   9482572
  REMARK    Review article
REFERENCE   8  (bases 1 to 6863)
  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 6863)
  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 6863)
  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 AB593093.1, Z83307.1 and
            BP394576.1.
            
            Summary: This gene encodes paired box gene 6, one of many human
            homologs of the Drosophila melanogaster gene prd. In addition to
            the hallmark feature of this gene family, a conserved paired box
            domain, the encoded protein also contains a homeo box domain. Both
            domains are known to bind DNA and function as regulators of gene
            transcription. This gene is expressed in the developing nervous
            system, and in developing eyes. Mutations in this gene are known to
            cause ocular disorders such as aniridia and Peter's anomaly.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, May
            2012].
            
            Transcript Variant: This variant (5) differs in the 5' UTR and
            includes an alternate exon in the coding region, but maintains the
            reading frame, compared to variant 1. Variants 2, 4 and 5 encode
            the same isoform (b), which is shorter than isoform a.
            
            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 :: AB593093.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1738              AB593093.1         1-1738
            1739-6670           Z83307.1           14301-19232
            6671-6863           BP394576.1         308-500
FEATURES             Location/Qualifiers
     source          1..6863
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..6863
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="paired box 6"
                     /db_xref="GeneID:5080"
                     /db_xref="HGNC:8620"
                     /db_xref="MIM:607108"
     exon            1..91
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     exon            92..279
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     exon            280..356
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    291..293
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="upstream in-frame stop codon"
     exon            357..417
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     CDS             408..1718
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="isoform b is encoded by transcript variant 5;
                     paired box homeotic gene-6; oculorhombin; aniridia type II
                     protein"
                     /codon_start=1
                     /product="paired box protein Pax-6 isoform b"
                     /protein_id="NP_001245392.1"
                     /db_xref="GI:386642913"
                     /db_xref="CCDS:CCDS31452.1"
                     /db_xref="GeneID:5080"
                     /db_xref="HGNC:8620"
                     /db_xref="MIM:607108"
                     /translation="
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ
"
     misc_feature    417..833
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="Paired Box domain; Region: PAX; smart00351"
                     /db_xref="CDD:128645"
     misc_feature    420..842
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="Paired Box domain; Region: PAX; cd00131"
                     /db_xref="CDD:238076"
     misc_feature    order(432..437,450..452,456..464,468..470,483..485,
                     519..521,525..527,594..596,603..605,609..614,624..626,
                     651..671,675..686,741..749,804..806,810..815,822..824,
                     831..833)
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238076"
     misc_feature    1089..1256
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:238039"
     misc_feature    order(1089..1094,1098..1100,1149..1151,1167..1169,
                     1206..1208,1212..1217,1224..1229,1233..1241,1245..1250)
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    order(1095..1097,1215..1217,1224..1229,1236..1238)
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     exon            418..548
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             418..548
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="GDB:344354"
                     /db_xref="UniSTS:156688"
     STS             430..641
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="D12Bir2"
                     /db_xref="UniSTS:141835"
     STS             435..546
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="Pax6"
                     /db_xref="UniSTS:466070"
     variation       543
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:78692805"
     exon            549..590
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     exon            591..806
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             606..1075
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="Pax6"
                     /db_xref="UniSTS:502695"
     exon            807..972
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     variation       869
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800427"
     STS             922..1010
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="Pax6"
                     /db_xref="UniSTS:534423"
     exon            973..1131
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     variation       1037
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3026383"
     exon            1132..1214
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     exon            1215..1365
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             1217..1364
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="GDB:316221"
                     /db_xref="UniSTS:156577"
     STS             1224..1372
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="RH78222"
                     /db_xref="UniSTS:88560"
     exon            1366..1481
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             1473..1664
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="RH79881"
                     /db_xref="UniSTS:83989"
     exon            1482..1632
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             1540..1689
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="GDB:197570"
                     /db_xref="UniSTS:155949"
     exon            1633..6860
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     variation       1822
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201999673"
     variation       2321
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026394"
     polyA_signal    2600..2605
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
     polyA_site      2626
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
     STS             2791..2922
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="RH46063"
                     /db_xref="UniSTS:29562"
     variation       2902
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1506"
     variation       3497
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026395"
     variation       3877
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3026396"
     variation       4224
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3026397"
     variation       4425
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3026398"
     variation       4703
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026399"
     variation       4920
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:608293"
     variation       4965
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3026400"
     variation       5676
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026401"
     polyA_signal    6841..6846
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
     polyA_site      6860
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
ORIGIN      
gcacttagtcaacaaatggcacgtgggagaagttggtgagtgtttggtgaggactcttcagggcttttcacaagaaccctctgtacacaaagaatctgagaattgctctcacacaccaacccagcaacatccgtggagaaaactctcaccagcaactcctttaaaacaccgtcatttcaaaccattgtggtcttcaagcaacaacagcagcacaaaaaaccccaaccaaacaaaactcttgacagaagctgtgacaaccagaaaggatgcctcataaagggggaagactttaactaggggcgcgcagatgtgtgaggccttttattgtgagagtggacagacatccgagatttcagagccccatattcgagccccgtggaatcccgcggcccccagccagagccagcatgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggccactgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgcgacatttcccgaattctgcagacccatgcagatgcaaaagtccaagtgctggacaatcaaaacgtgtccaacggatgtgtgagtaaaattctgggcaggtattacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgactccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgggaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtgtcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagacggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccctggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacaggaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggctcaaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagagcaaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccgagaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaatcgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaacacacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattccacaacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacacagccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataacctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccaccagcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacacatgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggtgtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaagattacagtaaaaaaaaaaaaaaaaaaaaaaaggaaaggaaatattgtgttaattcagtcagtgactatggggacacaacagttgagctttcaggaaagaaagaaaaatggctgttagagccgcttcagttctacaattgtgtcctgtattgtaccactggggaaggaatggacttgaaacaaggacctttgtatacagaaggcacgatatcagttggaacaaatcttcattttggtatccaaacttttattcattttggtgtattatttgtaaatgggcatttgtatgttataatgaaaaaaagaacaatgtagactggatggatgtttgatctgtgttggtcatgaagttgttttttttttttttaaaaagaaaaccatgatcaacaagctttgccacgaatttaagagttttatcaagatatatcgaatacttctacccatctgttcatagtttatggactgatgttccaagtttgtatcattcctttgcatataattaaacctggaacaacatgcactagatttatgtcagaaatatctgttggttttccaaaggttgttaacagatgaagtttatgtgcaaaaaagggtaagatataaattcaaggaagaaaaaaagttgatagctaaaaggtagagtgtgtcttcgatataatccaatttgttttatgtcaaaatgtaagtatttgtcttccctagaaatcctcagaatgatttctataataaagttaatttcatttatatttgacaagaatatagatgttttatacacattttcatgcaatcatacgtttcttttttggccagcaaaagttaattgttcttagatatagttgtattactgttcacggtccaatcattttgtgcatctagagttcattcctaatcaattaaaagtgcttgcaagagttttaaacttaagtgttttgaagttgttcacaactacatatcaaaattaaccattgttgattgtaaaaaaccatgccaaagcctttgtatttcctttattatacagttttctttttaaccttatagtgtggtgttacaaattttatttccatgttagatcaacattctaaaccaatggttactttcacacacactctgttttacatcctgatgatccttaaaaaataatccttatagataccataaatcaaaaacgtgttagaaaaaaattccacttacagcagggtgtagatctgtgcccatttatacccacaacatatatacaaaatggtaacatttcccagttagccatttaattctaaagctcaaagtctagaaataatttaaaaatgcaacaagcgattagctaggaattgttttttgaattaggactggcattttcaatctgggcagatttccattgtcagcctatttcaacaatgatttcactgaagtatattcaaaagtagatttcttaaaggagactttctgaaagctgttgcctttttcaaataggccctctcccttttctgtctccctcccctttgcacaagaggcatcatttcccattgaaccactacagctgttcccatttgaatcttgctttctgtgcggttgtggatggttggagggtggaggggggatgttgcatgtcaaggaataatgagcacagacacatcaacagacaacaacaaagcagactgtgactggccggtgggaattaaaggccttcagtcattggcagcttaagccaaacattcccaaatctatgaagcagggcccattgttggtcagttgttatttgcaatgaagcacagttctgatcatgtttaaagtggaggcacgcagggcaggagtgcttgagcccaagcaaaggatggaaaaaaataagcctttgttgggtaaaaaaggactgtctgagactttcatttgttctgtgcaacatataagtcaatacagataagtcttcctctgcaaacttcactaaaaagcctgggggttctggcagtctagattaaaatgcttgcacatgcagaaacctctggggacaaagacacacttccactgaattatactctgctttaaaaaaatccccaaaagcaaatgatcagaaatgtagaaattaatggaaggatttaaacatgaccttctcgttcaatatctactgttttttagttaaggaattacttgtgaacagataattgagattcattgctccggcatgaaatatactaataattttattccaccagagttgctgcacatttggagacaccttcctaagttgcagtttttgtatgtgtgcatgtagttttgttcagtgtcagcctgcactgcacagcagcacatttctgcaggggagtgagcacacatacgcactgttggtacaattgccggtgcagacatttctacctcctgacattttgcagcctacattccctgagggctgtgtgctgagggaactgtcagagaagggctatgtgggagtgcatgccacagctgctggctggcttacttcttccttctcgctggctgtaatttccaccacggtcaggcagccagttccggcccacggttctgttgtgtagacagcagagactttggagacccggatgtcgcacgccaggtgcaagaggtgggaatgggagaaaaggagtgacgtgggagcggagggtctgtatgtgtgcacttgggcacgtatatgtgtgctctgaaggtcaggattgccagggcaaagtagcacagtctggtatagtctgaagaagcggctgctcagctgcagaagccctctggtccggcaggatgggaacggctgccttgccttctgcccacaccctagggacatgagctgtccttccaaacagagctccaggcactctcttggggacagcatggcaggctctgtgtggtagcagtgcctgggagttggccttttactcattgttgaaataatttttgtttattatttatttaacgatacatatatttatatatttatcaatggggtatctgcagggatgttttgacaccatcttccaggatggagattatttgtgaagacttcagtagaatcccaggactaaacgtctaaattttttctccaaacttgactgacttgggaaaaccaggtgaatagaataagagctgaatgttttaagtaataaacgttcaaactgctctaagtaaaaaaatgcattttactgcaatgaatttctagaatatttttcccccaaagctatgcctcctaacccttaaatggtgaacaactggtttcttgctacagctcactgccatttcttcttactatcatcactaggtttcctaagattcactcatacagtattatttgaagattcagctttgttctgtgaatgtcatcttaggattgtgtctatattcttttgcttatttctttttactctgggcctctcatactagtaagattttaaaaagccttttcttctctgtatgtttggctcaccaaggcgaaatatatattcttctctttttcatttctcaagaataaacctcatctgcttttttgtttttctgtgttttggcttggtactgaatgactcaactgctcggttttaaagttcaaagtgtaagtacttagggttagtactgcttatttcaataatgttgacggtgactatctttggaaagcagtaacatgctgtcttagaaatgacattaataatgggcttaaacaaatgaataggggggtccccccactctccttttgtatgcctatgtgtgtctgatttgttaaaagatggacagggaattgattgcagagtgtcgcttccttctaaagtagttttattttgtctactgttagtatttaaagatcctggaggtggacataaggaataaatggaagagaaaagtagatattgtatggtggctactaaaaggaaattcaaaaagtcttagaacccgagcacctgagcaaactgcagtagtcaaaatatttatctcatgttaaagaaaggcaaatctagtgtaagaaatgagtaccatatagggttttgaagttcatatactagaaacacttaaaagatatcatttcagatattacgtttggcattgttcttaagtatttatatctttgagtcaagctgataattaaaaaaaatctgttaatggagtgtatatttcataatgtatcaaaatggtgtctatacctaaggtagcattattgaagagagatatgtttatgtagtaagttattaacataatgagtaacaaataatgtttccagaagaaaggaaaacacattttcagagtgcgtttttatcagaggaagacaaaaatacacacccctctccagtagcttatttttacaaagccggcccagtgaattagaaaaacaaagcacttggatatgatttttggaaagcccaggtacacttattattcaaaatgcacttttactgagtttgaaaagtttcttttatatttaaaataagggttcaaatatgcatattcaatttttatagtagttatctatttgcaaagcatatattaactagtaattggctgttaattttatagacatggtagccagggaagtatatcaatgacctattaagtattttgacaagcaatttacatatctgatgacctcgtatctctttttcagcaagtcaaatgctatgtaattgttccattgtgtgttgtataaaatgaatcaacacggtaagaaaaaggttagagttattaaaataataaactgactaaaatactcatttgaatttattcagaatgttcataatgctttcaaaggacatagcagagcttttgtggagtatccgcacaacattatttattatctatggactaaatcaattttttgaagttgctttaaaatttaaaagcacctttgcttaatataaagccctttaattttaactgacagatcaattctgaaactttattttgaaaagaaaatggggaagaatctgtgtctttagaattaaaagaaatgaaaaaaataaacccgacattctaaaaaaatagaataagaaacctgatttttagtactaatgaaatagcgggtgacaaaatagttgtctttttgattttgatcacaaaaaataaactggtagtgacaggatatgatggagagatttgacatcctggcaaatcactgtcattgattcaattattctaattctgaataaaagctgtatacagtaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5080 -> Molecular function: GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] evidence: IDA
            GeneID:5080 -> Molecular function: GO:0000981 [sequence-specific DNA binding RNA polymerase II transcription factor activity] evidence: IDA
            GeneID:5080 -> Molecular function: GO:0003677 [DNA binding] evidence: TAS
            GeneID:5080 -> Molecular function: GO:0003680 [AT DNA binding] evidence: IEA
            GeneID:5080 -> Molecular function: GO:0003690 [double-stranded DNA binding] evidence: IEA
            GeneID:5080 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: TAS
            GeneID:5080 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: ISS
            GeneID:5080 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5080 -> Molecular function: GO:0008134 [transcription factor binding] evidence: ISS
            GeneID:5080 -> Molecular function: GO:0019901 [protein kinase binding] evidence: ISS
            GeneID:5080 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IEA
            GeneID:5080 -> Molecular function: GO:0035035 [histone acetyltransferase binding] evidence: ISS
            GeneID:5080 -> Molecular function: GO:0070410 [co-SMAD binding] evidence: IEA
            GeneID:5080 -> Molecular function: GO:0070412 [R-SMAD binding] evidence: IPI
            GeneID:5080 -> Molecular function: GO:0071837 [HMG box domain binding] evidence: IEA
            GeneID:5080 -> Biological process: GO:0001568 [blood vessel development] evidence: IMP
            GeneID:5080 -> Biological process: GO:0001654 [eye development] evidence: TAS
            GeneID:5080 -> Biological process: GO:0001709 [cell fate determination] evidence: IEA
            GeneID:5080 -> Biological process: GO:0001764 [neuron migration] evidence: IEA
            GeneID:5080 -> Biological process: GO:0002052 [positive regulation of neuroblast proliferation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0002088 [lens development in camera-type eye] evidence: IEA
            GeneID:5080 -> Biological process: GO:0003322 [pancreatic A cell development] evidence: IMP
            GeneID:5080 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: IMP
            GeneID:5080 -> Biological process: GO:0007224 [smoothened signaling pathway] evidence: IEA
            GeneID:5080 -> Biological process: GO:0007411 [axon guidance] evidence: IEA
            GeneID:5080 -> Biological process: GO:0007417 [central nervous system development] evidence: TAS
            GeneID:5080 -> Biological process: GO:0007435 [salivary gland morphogenesis] evidence: IEA
            GeneID:5080 -> Biological process: GO:0007601 [visual perception] evidence: TAS
            GeneID:5080 -> Biological process: GO:0009611 [response to wounding] evidence: IEP
            GeneID:5080 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS
            GeneID:5080 -> Biological process: GO:0009950 [dorsal/ventral axis specification] evidence: IEA
            GeneID:5080 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: IMP
            GeneID:5080 -> Biological process: GO:0016567 [protein ubiquitination] evidence: ISS
            GeneID:5080 -> Biological process: GO:0021778 [oligodendrocyte cell fate specification] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021796 [cerebral cortex regionalization] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021797 [forebrain anterior/posterior pattern specification] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021798 [forebrain dorsal/ventral pattern formation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021902 [commitment of neuronal cell to specific neuron type in forebrain] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021905 [forebrain-midbrain boundary formation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021912 [regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021913 [regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021918 [regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment] evidence: IEA
            GeneID:5080 -> Biological process: GO:0021983 [pituitary gland development] evidence: IEA
            GeneID:5080 -> Biological process: GO:0023019 [signal transduction involved in regulation of gene expression] evidence: IEA
            GeneID:5080 -> Biological process: GO:0030216 [keratinocyte differentiation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0030334 [regulation of cell migration] evidence: IEA
            GeneID:5080 -> Biological process: GO:0030858 [positive regulation of epithelial cell differentiation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0030902 [hindbrain development] evidence: IEA
            GeneID:5080 -> Biological process: GO:0032808 [lacrimal gland development] evidence: IEA
            GeneID:5080 -> Biological process: GO:0033365 [protein localization to organelle] evidence: IEA
            GeneID:5080 -> Biological process: GO:0042462 [eye photoreceptor cell development] evidence: IEA
            GeneID:5080 -> Biological process: GO:0042593 [glucose homeostasis] evidence: IMP
            GeneID:5080 -> Biological process: GO:0042660 [positive regulation of cell fate specification] evidence: IEA
            GeneID:5080 -> Biological process: GO:0045665 [negative regulation of neuron differentiation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IMP
            GeneID:5080 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS
            GeneID:5080 -> Biological process: GO:0048505 [regulation of timing of cell differentiation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0048596 [embryonic camera-type eye morphogenesis] evidence: IEA
            GeneID:5080 -> Biological process: GO:0048663 [neuron fate commitment] evidence: NAS
            GeneID:5080 -> Biological process: GO:0048708 [astrocyte differentiation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0050680 [negative regulation of epithelial cell proliferation] evidence: IEA
            GeneID:5080 -> Biological process: GO:0050768 [negative regulation of neurogenesis] evidence: ISS
            GeneID:5080 -> Biological process: GO:0061072 [iris morphogenesis] evidence: IMP
            GeneID:5080 -> Biological process: GO:0061303 [cornea development in camera-type eye] evidence: IMP
            GeneID:5080 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: IDA
            GeneID:5080 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:5080 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
            GeneID:5080 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA

by @meso_cacase at DBCLS
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