2024-04-23 18:29:08, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001258462 6925 bp mRNA linear PRI 17-JUN-2013 DEFINITION Homo sapiens paired box 6 (PAX6), transcript variant 4, mRNA. ACCESSION NM_001258462 VERSION NM_001258462.1 GI:386642910 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 6925) 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 6925) 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 6925) 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 6925) 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 6925) 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 6925) 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 6925) 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 6925) 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 6925) 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 6925) 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 DA183294.1, AB593092.1, 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 (4) 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 :: AB593092.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025082, ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-61 DA183294.1 1-61 62-1800 AB593092.1 1-1739 1801-6732 Z83307.1 14301-19232 6733-6925 BP394576.1 308-500 FEATURES Location/Qualifiers source 1..6925 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p13" gene 1..6925 /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..153 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" exon 154..341 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" exon 342..418 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" misc_feature 353..355 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /note="upstream in-frame stop codon" exon 419..479 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" CDS 470..1780 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /note="isoform b is encoded by transcript variant 4; paired box homeotic gene-6; oculorhombin; aniridia type II protein" /codon_start=1 /product="paired box protein Pax-6 isoform b" /protein_id="NP_001245391.1" /db_xref="GI:386642911" /db_xref="CCDS:CCDS31452.1" /db_xref="GeneID:5080" /db_xref="HGNC:8620" /db_xref="MIM:607108" /translation="
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ
" misc_feature 479..895 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /note="Paired Box domain; Region: PAX; smart00351" /db_xref="CDD:128645" misc_feature 482..904 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /note="Paired Box domain; Region: PAX; cd00131" /db_xref="CDD:238076" misc_feature order(494..499,512..514,518..526,530..532,545..547, 581..583,587..589,656..658,665..667,671..676,686..688, 713..733,737..748,803..811,866..868,872..877,884..886, 893..895) /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238076" misc_feature 1151..1318 /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(1151..1156,1160..1162,1211..1213,1229..1231, 1268..1270,1274..1279,1286..1291,1295..1303,1307..1312) /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" misc_feature order(1157..1159,1277..1279,1286..1291,1298..1300) /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:238039" exon 480..610 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" STS 480..610 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="GDB:344354" /db_xref="UniSTS:156688" STS 492..703 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="D12Bir2" /db_xref="UniSTS:141835" STS 497..608 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="Pax6" /db_xref="UniSTS:466070" variation 605 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="c" /replace="g" /db_xref="dbSNP:78692805" exon 611..652 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" exon 653..868 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" STS 668..1137 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="Pax6" /db_xref="UniSTS:502695" exon 869..1034 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" variation 931 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="c" /replace="t" /db_xref="dbSNP:1800427" STS 984..1072 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="Pax6" /db_xref="UniSTS:534423" exon 1035..1193 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" variation 1099 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="c" /replace="t" /db_xref="dbSNP:3026383" exon 1194..1276 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" exon 1277..1427 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" STS 1279..1426 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="GDB:316221" /db_xref="UniSTS:156577" STS 1286..1434 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="RH78222" /db_xref="UniSTS:88560" exon 1428..1543 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" STS 1535..1726 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="RH79881" /db_xref="UniSTS:83989" exon 1544..1694 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" STS 1602..1751 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="GDB:197570" /db_xref="UniSTS:155949" exon 1695..6922 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /inference="alignment:Splign:1.39.8" variation 1884 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="g" /replace="t" /db_xref="dbSNP:201999673" variation 2383 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="g" /db_xref="dbSNP:3026394" polyA_signal 2662..2667 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" polyA_site 2688 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" STS 2853..2984 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /standard_name="RH46063" /db_xref="UniSTS:29562" variation 2964 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="t" /db_xref="dbSNP:1506" variation 3559 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="g" /db_xref="dbSNP:3026395" variation 3939 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="c" /db_xref="dbSNP:3026396" variation 4286 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="c" /replace="t" /db_xref="dbSNP:3026397" variation 4487 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="c" /replace="t" /db_xref="dbSNP:3026398" variation 4765 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="g" /db_xref="dbSNP:3026399" variation 4982 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="g" /db_xref="dbSNP:608293" variation 5027 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="t" /db_xref="dbSNP:3026400" variation 5738 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" /replace="a" /replace="g" /db_xref="dbSNP:3026401" polyA_signal 6903..6908 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" polyA_site 6922 /gene="PAX6" /gene_synonym="AN; AN2; D11S812E; MGDA; WAGR" ORIGIN
accctcttttcttatcattgacatttaaactctggggcaggtcctcgcgtagaacgcggctgtcagatctgccacttcccctgccgagcggcggtgagaagtgtgggaaccggcgctgccaggctcacctgcctccccgccctccgctcccaggaatctgagaattgctctcacacaccaacccagcaacatccgtggagaaaactctcaccagcaactcctttaaaacaccgtcatttcaaaccattgtggtcttcaagcaacaacagcagcacaaaaaaccccaaccaaacaaaactcttgacagaagctgtgacaaccagaaaggatgcctcataaagggggaagactttaactaggggcgcgcagatgtgtgaggccttttattgtgagagtggacagacatccgagatttcagagccccatattcgagccccgtggaatcccgcggcccccagccagagccagcatgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggccactgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgcgacatttcccgaattctgcagacccatgcagatgcaaaagtccaagtgctggacaatcaaaacgtgtccaacggatgtgtgagtaaaattctgggcaggtattacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgactccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgggaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtgtcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagacggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccctggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacaggaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggctcaaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagagcaaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccgagaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaatcgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaacacacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattccacaacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacacagccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataacctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccaccagcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacacatgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggtgtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaagattacagtaaaaaaaaaaaaaaaaaaaaaaaggaaaggaaatattgtgttaattcagtcagtgactatggggacacaacagttgagctttcaggaaagaaagaaaaatggctgttagagccgcttcagttctacaattgtgtcctgtattgtaccactggggaaggaatggacttgaaacaaggacctttgtatacagaaggcacgatatcagttggaacaaatcttcattttggtatccaaacttttattcattttggtgtattatttgtaaatgggcatttgtatgttataatgaaaaaaagaacaatgtagactggatggatgtttgatctgtgttggtcatgaagttgttttttttttttttaaaaagaaaaccatgatcaacaagctttgccacgaatttaagagttttatcaagatatatcgaatacttctacccatctgttcatagtttatggactgatgttccaagtttgtatcattcctttgcatataattaaacctggaacaacatgcactagatttatgtcagaaatatctgttggttttccaaaggttgttaacagatgaagtttatgtgcaaaaaagggtaagatataaattcaaggaagaaaaaaagttgatagctaaaaggtagagtgtgtcttcgatataatccaatttgttttatgtcaaaatgtaagtatttgtcttccctagaaatcctcagaatgatttctataataaagttaatttcatttatatttgacaagaatatagatgttttatacacattttcatgcaatcatacgtttcttttttggccagcaaaagttaattgttcttagatatagttgtattactgttcacggtccaatcattttgtgcatctagagttcattcctaatcaattaaaagtgcttgcaagagttttaaacttaagtgttttgaagttgttcacaactacatatcaaaattaaccattgttgattgtaaaaaaccatgccaaagcctttgtatttcctttattatacagttttctttttaaccttatagtgtggtgttacaaattttatttccatgttagatcaacattctaaaccaatggttactttcacacacactctgttttacatcctgatgatccttaaaaaataatccttatagataccataaatcaaaaacgtgttagaaaaaaattccacttacagcagggtgtagatctgtgcccatttatacccacaacatatatacaaaatggtaacatttcccagttagccatttaattctaaagctcaaagtctagaaataatttaaaaatgcaacaagcgattagctaggaattgttttttgaattaggactggcattttcaatctgggcagatttccattgtcagcctatttcaacaatgatttcactgaagtatattcaaaagtagatttcttaaaggagactttctgaaagctgttgcctttttcaaataggccctctcccttttctgtctccctcccctttgcacaagaggcatcatttcccattgaaccactacagctgttcccatttgaatcttgctttctgtgcggttgtggatggttggagggtggaggggggatgttgcatgtcaaggaataatgagcacagacacatcaacagacaacaacaaagcagactgtgactggccggtgggaattaaaggccttcagtcattggcagcttaagccaaacattcccaaatctatgaagcagggcccattgttggtcagttgttatttgcaatgaagcacagttctgatcatgtttaaagtggaggcacgcagggcaggagtgcttgagcccaagcaaaggatggaaaaaaataagcctttgttgggtaaaaaaggactgtctgagactttcatttgttctgtgcaacatataagtcaatacagataagtcttcctctgcaaacttcactaaaaagcctgggggttctggcagtctagattaaaatgcttgcacatgcagaaacctctggggacaaagacacacttccactgaattatactctgctttaaaaaaatccccaaaagcaaatgatcagaaatgtagaaattaatggaaggatttaaacatgaccttctcgttcaatatctactgttttttagttaaggaattacttgtgaacagataattgagattcattgctccggcatgaaatatactaataattttattccaccagagttgctgcacatttggagacaccttcctaagttgcagtttttgtatgtgtgcatgtagttttgttcagtgtcagcctgcactgcacagcagcacatttctgcaggggagtgagcacacatacgcactgttggtacaattgccggtgcagacatttctacctcctgacattttgcagcctacattccctgagggctgtgtgctgagggaactgtcagagaagggctatgtgggagtgcatgccacagctgctggctggcttacttcttccttctcgctggctgtaatttccaccacggtcaggcagccagttccggcccacggttctgttgtgtagacagcagagactttggagacccggatgtcgcacgccaggtgcaagaggtgggaatgggagaaaaggagtgacgtgggagcggagggtctgtatgtgtgcacttgggcacgtatatgtgtgctctgaaggtcaggattgccagggcaaagtagcacagtctggtatagtctgaagaagcggctgctcagctgcagaagccctctggtccggcaggatgggaacggctgccttgccttctgcccacaccctagggacatgagctgtccttccaaacagagctccaggcactctcttggggacagcatggcaggctctgtgtggtagcagtgcctgggagttggccttttactcattgttgaaataatttttgtttattatttatttaacgatacatatatttatatatttatcaatggggtatctgcagggatgttttgacaccatcttccaggatggagattatttgtgaagacttcagtagaatcccaggactaaacgtctaaattttttctccaaacttgactgacttgggaaaaccaggtgaatagaataagagctgaatgttttaagtaataaacgttcaaactgctctaagtaaaaaaatgcattttactgcaatgaatttctagaatatttttcccccaaagctatgcctcctaacccttaaatggtgaacaactggtttcttgctacagctcactgccatttcttcttactatcatcactaggtttcctaagattcactcatacagtattatttgaagattcagctttgttctgtgaatgtcatcttaggattgtgtctatattcttttgcttatttctttttactctgggcctctcatactagtaagattttaaaaagccttttcttctctgtatgtttggctcaccaaggcgaaatatatattcttctctttttcatttctcaagaataaacctcatctgcttttttgtttttctgtgttttggcttggtactgaatgactcaactgctcggttttaaagttcaaagtgtaagtacttagggttagtactgcttatttcaataatgttgacggtgactatctttggaaagcagtaacatgctgtcttagaaatgacattaataatgggcttaaacaaatgaataggggggtccccccactctccttttgtatgcctatgtgtgtctgatttgttaaaagatggacagggaattgattgcagagtgtcgcttccttctaaagtagttttattttgtctactgttagtatttaaagatcctggaggtggacataaggaataaatggaagagaaaagtagatattgtatggtggctactaaaaggaaattcaaaaagtcttagaacccgagcacctgagcaaactgcagtagtcaaaatatttatctcatgttaaagaaaggcaaatctagtgtaagaaatgagtaccatatagggttttgaagttcatatactagaaacacttaaaagatatcatttcagatattacgtttggcattgttcttaagtatttatatctttgagtcaagctgataattaaaaaaaatctgttaatggagtgtatatttcataatgtatcaaaatggtgtctatacctaaggtagcattattgaagagagatatgtttatgtagtaagttattaacataatgagtaacaaataatgtttccagaagaaaggaaaacacattttcagagtgcgtttttatcagaggaagacaaaaatacacacccctctccagtagcttatttttacaaagccggcccagtgaattagaaaaacaaagcacttggatatgatttttggaaagcccaggtacacttattattcaaaatgcacttttactgagtttgaaaagtttcttttatatttaaaataagggttcaaatatgcatattcaatttttatagtagttatctatttgcaaagcatatattaactagtaattggctgttaattttatagacatggtagccagggaagtatatcaatgacctattaagtattttgacaagcaatttacatatctgatgacctcgtatctctttttcagcaagtcaaatgctatgtaattgttccattgtgtgttgtataaaatgaatcaacacggtaagaaaaaggttagagttattaaaataataaactgactaaaatactcatttgaatttattcagaatgttcataatgctttcaaaggacatagcagagcttttgtggagtatccgcacaacattatttattatctatggactaaatcaattttttgaagttgctttaaaatttaaaagcacctttgcttaatataaagccctttaattttaactgacagatcaattctgaaactttattttgaaaagaaaatggggaagaatctgtgtctttagaattaaaagaaatgaaaaaaataaacccgacattctaaaaaaatagaataagaaacctgatttttagtactaatgaaatagcgggtgacaaaatagttgtctttttgattttgatcacaaaaaataaactggtagtgacaggatatgatggagagatttgacatcctggcaaatcactgtcattgattcaattattctaattctgaataaaagctgtatacagtaaaa
//
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
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