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2024-03-29 16:35:41, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001258465            6857 bp    mRNA    linear   PRI 17-JUN-2013
DEFINITION  Homo sapiens paired box 6 (PAX6), transcript variant 7, mRNA.
ACCESSION   NM_001258465
VERSION     NM_001258465.1  GI:386642916
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 6857)
  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 6857)
  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 6857)
  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 6857)
  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 6857)
  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 6857)
  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 6857)
  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 6857)
  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 6857)
  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 6857)
  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 DA079367.1, M77844.1,
            AY707088.1, 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 (7) differs in the 5' UTR compared
            to variant 1. Variants 1, 3, 6 and 7 encode the same 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 :: M77844.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-146               DA079367.1         1-146
            147-1392            M77844.1           66-1311
            1393-1712           AY707088.1         950-1269
            1713-6664           Z83307.1           14281-19232
            6665-6857           BP394576.1         308-500
FEATURES             Location/Qualifiers
     source          1..6857
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..6857
                     /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..315
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     exon            316..392
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    327..329
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="upstream in-frame stop codon"
     exon            393..453
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     CDS             444..1712
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="isoform a is encoded by transcript variant 7;
                     paired box homeotic gene-6; oculorhombin; aniridia type II
                     protein"
                     /codon_start=1
                     /product="paired box protein Pax-6 isoform a"
                     /protein_id="NP_001245394.1"
                     /db_xref="GI:386642917"
                     /db_xref="CCDS:CCDS31451.1"
                     /db_xref="GeneID:5080"
                     /db_xref="HGNC:8620"
                     /db_xref="MIM:607108"
                     /translation="
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ
"
     misc_feature    453..827
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="Paired Box domain; Region: PAX; smart00351"
                     /db_xref="CDD:128645"
     misc_feature    456..836
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="Paired Box domain; Region: PAX; cd00131"
                     /db_xref="CDD:238076"
     misc_feature    order(468..473,486..488,492..500,504..506,519..521,
                     555..557,561..563,588..590,597..599,603..608,618..620,
                     645..665,669..680,735..743,798..800,804..809,816..818,
                     825..827)
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238076"
     misc_feature    1083..1250
                     /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(1083..1088,1092..1094,1143..1145,1161..1163,
                     1200..1202,1206..1211,1218..1223,1227..1235,1239..1244)
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    order(1089..1091,1209..1211,1218..1223,1230..1232)
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     exon            454..584
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             454..584
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="GDB:344354"
                     /db_xref="UniSTS:156688"
     STS             466..635
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="D12Bir2"
                     /db_xref="UniSTS:141835"
     STS             471..582
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="Pax6"
                     /db_xref="UniSTS:466070"
     variation       579
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:78692805"
     exon            585..800
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             600..1069
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="Pax6"
                     /db_xref="UniSTS:502695"
     exon            801..966
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     variation       863
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800427"
     STS             916..1004
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="Pax6"
                     /db_xref="UniSTS:534423"
     exon            967..1125
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     variation       1031
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3026383"
     exon            1126..1208
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     exon            1209..1359
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             1211..1358
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="GDB:316221"
                     /db_xref="UniSTS:156577"
     STS             1218..1366
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="RH78222"
                     /db_xref="UniSTS:88560"
     exon            1360..1475
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             1467..1658
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="RH79881"
                     /db_xref="UniSTS:83989"
     exon            1476..1626
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     STS             1534..1683
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="GDB:197570"
                     /db_xref="UniSTS:155949"
     exon            1627..6854
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /inference="alignment:Splign:1.39.8"
     variation       1816
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201999673"
     variation       2315
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026394"
     polyA_signal    2594..2599
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
     polyA_site      2620
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
     STS             2785..2916
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /standard_name="RH46063"
                     /db_xref="UniSTS:29562"
     variation       2896
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1506"
     variation       3491
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026395"
     variation       3871
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3026396"
     variation       4218
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3026397"
     variation       4419
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3026398"
     variation       4697
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026399"
     variation       4914
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:608293"
     variation       4959
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3026400"
     variation       5670
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3026401"
     polyA_signal    6835..6840
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
     polyA_site      6854
                     /gene="PAX6"
                     /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
ORIGIN      
acacttgagccatcaccaatcagcataggtgtgctggctgcagccacttccctcacccacactctttatctctcactctccagccgctgacagcccattttattgtcaatctctgtctccttcccaggaatctgagaattgctctcacacaccaacccagcaacatccgtggagaaaactctcaccagcaactcctttaaaacaccgtcatttcaaaccattgtggtcttcaagcaacaacagcagcacaaaaaaccccaaccaaacaaaactcttgacagaagctgtgacaaccagaaaggatgcctcataaagggggaagactttaactaggggcgcgcagatgtgtgaggccttttattgtgagagtggacagacatccgagatttcagagccccatattcgagccccgtggaatcccgcggcccccagccagagccagcatgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggccactgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgcgacatttcccgaattctgcaggtgtccaacggatgtgtgagtaaaattctgggcaggtattacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgactccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgggaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtgtcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagacggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccctggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacaggaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggctcaaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagagcaaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccgagaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaatcgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaacacacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattccacaacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacacagccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataacctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccaccagcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacacatgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggtgtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaagattacagtaaaaaaaaaaaaaaaaaaaaaaaggaaaggaaatattgtgttaattcagtcagtgactatggggacacaacagttgagctttcaggaaagaaagaaaaatggctgttagagccgcttcagttctacaattgtgtcctgtattgtaccactggggaaggaatggacttgaaacaaggacctttgtatacagaaggcacgatatcagttggaacaaatcttcattttggtatccaaacttttattcattttggtgtattatttgtaaatgggcatttgtatgttataatgaaaaaaagaacaatgtagactggatggatgtttgatctgtgttggtcatgaagttgttttttttttttttaaaaagaaaaccatgatcaacaagctttgccacgaatttaagagttttatcaagatatatcgaatacttctacccatctgttcatagtttatggactgatgttccaagtttgtatcattcctttgcatataattaaacctggaacaacatgcactagatttatgtcagaaatatctgttggttttccaaaggttgttaacagatgaagtttatgtgcaaaaaagggtaagatataaattcaaggaagaaaaaaagttgatagctaaaaggtagagtgtgtcttcgatataatccaatttgttttatgtcaaaatgtaagtatttgtcttccctagaaatcctcagaatgatttctataataaagttaatttcatttatatttgacaagaatatagatgttttatacacattttcatgcaatcatacgtttcttttttggccagcaaaagttaattgttcttagatatagttgtattactgttcacggtccaatcattttgtgcatctagagttcattcctaatcaattaaaagtgcttgcaagagttttaaacttaagtgttttgaagttgttcacaactacatatcaaaattaaccattgttgattgtaaaaaaccatgccaaagcctttgtatttcctttattatacagttttctttttaaccttatagtgtggtgttacaaattttatttccatgttagatcaacattctaaaccaatggttactttcacacacactctgttttacatcctgatgatccttaaaaaataatccttatagataccataaatcaaaaacgtgttagaaaaaaattccacttacagcagggtgtagatctgtgcccatttatacccacaacatatatacaaaatggtaacatttcccagttagccatttaattctaaagctcaaagtctagaaataatttaaaaatgcaacaagcgattagctaggaattgttttttgaattaggactggcattttcaatctgggcagatttccattgtcagcctatttcaacaatgatttcactgaagtatattcaaaagtagatttcttaaaggagactttctgaaagctgttgcctttttcaaataggccctctcccttttctgtctccctcccctttgcacaagaggcatcatttcccattgaaccactacagctgttcccatttgaatcttgctttctgtgcggttgtggatggttggagggtggaggggggatgttgcatgtcaaggaataatgagcacagacacatcaacagacaacaacaaagcagactgtgactggccggtgggaattaaaggccttcagtcattggcagcttaagccaaacattcccaaatctatgaagcagggcccattgttggtcagttgttatttgcaatgaagcacagttctgatcatgtttaaagtggaggcacgcagggcaggagtgcttgagcccaagcaaaggatggaaaaaaataagcctttgttgggtaaaaaaggactgtctgagactttcatttgttctgtgcaacatataagtcaatacagataagtcttcctctgcaaacttcactaaaaagcctgggggttctggcagtctagattaaaatgcttgcacatgcagaaacctctggggacaaagacacacttccactgaattatactctgctttaaaaaaatccccaaaagcaaatgatcagaaatgtagaaattaatggaaggatttaaacatgaccttctcgttcaatatctactgttttttagttaaggaattacttgtgaacagataattgagattcattgctccggcatgaaatatactaataattttattccaccagagttgctgcacatttggagacaccttcctaagttgcagtttttgtatgtgtgcatgtagttttgttcagtgtcagcctgcactgcacagcagcacatttctgcaggggagtgagcacacatacgcactgttggtacaattgccggtgcagacatttctacctcctgacattttgcagcctacattccctgagggctgtgtgctgagggaactgtcagagaagggctatgtgggagtgcatgccacagctgctggctggcttacttcttccttctcgctggctgtaatttccaccacggtcaggcagccagttccggcccacggttctgttgtgtagacagcagagactttggagacccggatgtcgcacgccaggtgcaagaggtgggaatgggagaaaaggagtgacgtgggagcggagggtctgtatgtgtgcacttgggcacgtatatgtgtgctctgaaggtcaggattgccagggcaaagtagcacagtctggtatagtctgaagaagcggctgctcagctgcagaagccctctggtccggcaggatgggaacggctgccttgccttctgcccacaccctagggacatgagctgtccttccaaacagagctccaggcactctcttggggacagcatggcaggctctgtgtggtagcagtgcctgggagttggccttttactcattgttgaaataatttttgtttattatttatttaacgatacatatatttatatatttatcaatggggtatctgcagggatgttttgacaccatcttccaggatggagattatttgtgaagacttcagtagaatcccaggactaaacgtctaaattttttctccaaacttgactgacttgggaaaaccaggtgaatagaataagagctgaatgttttaagtaataaacgttcaaactgctctaagtaaaaaaatgcattttactgcaatgaatttctagaatatttttcccccaaagctatgcctcctaacccttaaatggtgaacaactggtttcttgctacagctcactgccatttcttcttactatcatcactaggtttcctaagattcactcatacagtattatttgaagattcagctttgttctgtgaatgtcatcttaggattgtgtctatattcttttgcttatttctttttactctgggcctctcatactagtaagattttaaaaagccttttcttctctgtatgtttggctcaccaaggcgaaatatatattcttctctttttcatttctcaagaataaacctcatctgcttttttgtttttctgtgttttggcttggtactgaatgactcaactgctcggttttaaagttcaaagtgtaagtacttagggttagtactgcttatttcaataatgttgacggtgactatctttggaaagcagtaacatgctgtcttagaaatgacattaataatgggcttaaacaaatgaataggggggtccccccactctccttttgtatgcctatgtgtgtctgatttgttaaaagatggacagggaattgattgcagagtgtcgcttccttctaaagtagttttattttgtctactgttagtatttaaagatcctggaggtggacataaggaataaatggaagagaaaagtagatattgtatggtggctactaaaaggaaattcaaaaagtcttagaacccgagcacctgagcaaactgcagtagtcaaaatatttatctcatgttaaagaaaggcaaatctagtgtaagaaatgagtaccatatagggttttgaagttcatatactagaaacacttaaaagatatcatttcagatattacgtttggcattgttcttaagtatttatatctttgagtcaagctgataattaaaaaaaatctgttaatggagtgtatatttcataatgtatcaaaatggtgtctatacctaaggtagcattattgaagagagatatgtttatgtagtaagttattaacataatgagtaacaaataatgtttccagaagaaaggaaaacacattttcagagtgcgtttttatcagaggaagacaaaaatacacacccctctccagtagcttatttttacaaagccggcccagtgaattagaaaaacaaagcacttggatatgatttttggaaagcccaggtacacttattattcaaaatgcacttttactgagtttgaaaagtttcttttatatttaaaataagggttcaaatatgcatattcaatttttatagtagttatctatttgcaaagcatatattaactagtaattggctgttaattttatagacatggtagccagggaagtatatcaatgacctattaagtattttgacaagcaatttacatatctgatgacctcgtatctctttttcagcaagtcaaatgctatgtaattgttccattgtgtgttgtataaaatgaatcaacacggtaagaaaaaggttagagttattaaaataataaactgactaaaatactcatttgaatttattcagaatgttcataatgctttcaaaggacatagcagagcttttgtggagtatccgcacaacattatttattatctatggactaaatcaattttttgaagttgctttaaaatttaaaagcacctttgcttaatataaagccctttaattttaactgacagatcaattctgaaactttattttgaaaagaaaatggggaagaatctgtgtctttagaattaaaagaaatgaaaaaaataaacccgacattctaaaaaaatagaataagaaacctgatttttagtactaatgaaatagcgggtgacaaaatagttgtctttttgattttgatcacaaaaaataaactggtagtgacaggatatgatggagagatttgacatcctggcaaatcactgtcattgattcaattattctaattctgaataaaagctgtatacagtaaaa
//

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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