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2025-05-09 19:54:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001258464 6871 bp mRNA linear PRI 17-JUN-2013
DEFINITION Homo sapiens paired box 6 (PAX6), transcript variant 6, mRNA.
ACCESSION NM_001258464
VERSION NM_001258464.1 GI:386642914
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 6871)
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 6871)
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 6871)
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 6871)
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 6871)
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 6871)
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 6871)
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 6871)
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 6871)
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 6871)
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 DA078958.1, BC011953.1,
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 (6) 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 :: BC011953.1 [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
1-116 DA078958.1 1-116
117-1747 BC011953.1 1-1631
1748-6678 Z83307.1 14302-19232
6679-6871 BP394576.1 308-500
FEATURES Location/Qualifiers
source 1..6871
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p13"
gene 1..6871
/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..141
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
exon 142..329
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
exon 330..406
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
misc_feature 341..343
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/note="upstream in-frame stop codon"
exon 407..467
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
CDS 458..1726
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/note="isoform a is encoded by transcript variant 6;
paired box homeotic gene-6; oculorhombin; aniridia type II
protein"
/codon_start=1
/product="paired box protein Pax-6 isoform a"
/protein_id="NP_001245393.1"
/db_xref="GI:386642915"
/db_xref="CCDS:CCDS31451.1"
/db_xref="GeneID:5080"
/db_xref="HGNC:8620"
/db_xref="MIM:607108"
/translation="
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ
"
misc_feature 467..841
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/note="Paired Box domain; Region: PAX; smart00351"
/db_xref="CDD:128645"
misc_feature 470..850
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/note="Paired Box domain; Region: PAX; cd00131"
/db_xref="CDD:238076"
misc_feature order(482..487,500..502,506..514,518..520,533..535,
569..571,575..577,602..604,611..613,617..622,632..634,
659..679,683..694,749..757,812..814,818..823,830..832,
839..841)
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:238076"
misc_feature 1097..1264
/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(1097..1102,1106..1108,1157..1159,1175..1177,
1214..1216,1220..1225,1232..1237,1241..1249,1253..1258)
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:238039"
misc_feature order(1103..1105,1223..1225,1232..1237,1244..1246)
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:238039"
exon 468..598
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
STS 468..598
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="GDB:344354"
/db_xref="UniSTS:156688"
STS 480..649
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="D12Bir2"
/db_xref="UniSTS:141835"
STS 485..596
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="Pax6"
/db_xref="UniSTS:466070"
variation 593
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="c"
/replace="g"
/db_xref="dbSNP:78692805"
exon 599..814
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
STS 614..1083
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="Pax6"
/db_xref="UniSTS:502695"
exon 815..980
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
variation 877
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800427"
STS 930..1018
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="Pax6"
/db_xref="UniSTS:534423"
exon 981..1139
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
variation 1045
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="c"
/replace="t"
/db_xref="dbSNP:3026383"
exon 1140..1222
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
exon 1223..1373
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
STS 1225..1372
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="GDB:316221"
/db_xref="UniSTS:156577"
STS 1232..1380
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="RH78222"
/db_xref="UniSTS:88560"
exon 1374..1489
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
STS 1481..1672
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="RH79881"
/db_xref="UniSTS:83989"
exon 1490..1640
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
STS 1548..1697
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="GDB:197570"
/db_xref="UniSTS:155949"
exon 1641..6868
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/inference="alignment:Splign:1.39.8"
variation 1830
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="g"
/replace="t"
/db_xref="dbSNP:201999673"
variation 2329
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026394"
polyA_signal 2608..2613
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
polyA_site 2634
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
STS 2799..2930
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/standard_name="RH46063"
/db_xref="UniSTS:29562"
variation 2910
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="t"
/db_xref="dbSNP:1506"
variation 3505
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026395"
variation 3885
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="c"
/db_xref="dbSNP:3026396"
variation 4232
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="c"
/replace="t"
/db_xref="dbSNP:3026397"
variation 4433
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="c"
/replace="t"
/db_xref="dbSNP:3026398"
variation 4711
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026399"
variation 4928
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="g"
/db_xref="dbSNP:608293"
variation 4973
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="t"
/db_xref="dbSNP:3026400"
variation 5684
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
/replace="a"
/replace="g"
/db_xref="dbSNP:3026401"
polyA_signal 6849..6854
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
polyA_site 6868
/gene="PAX6"
/gene_synonym="AN; AN2; D11S812E; MGDA; WAGR"
ORIGIN
aatattttgtgtgagagcgagcggtgcatttgcatgttgcggagtgattagtgggtttgaaaagggaaccgtggctcggcctcatttcccgctctggttcaggcgcaggaggaagtgttttgctggaggatgatgacagaggaatctgagaattgctctcacacaccaacccagcaacatccgtggagaaaactctcaccagcaactcctttaaaacaccgtcatttcaaaccattgtggtcttcaagcaacaacagcagcacaaaaaaccccaaccaaacaaaactcttgacagaagctgtgacaaccagaaaggatgcctcataaagggggaagactttaactaggggcgcgcagatgtgtgaggccttttattgtgagagtggacagacatccgagatttcagagccccatattcgagccccgtggaatcccgcggcccccagccagagccagcatgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggccactgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgcgacatttcccgaattctgcaggtgtccaacggatgtgtgagtaaaattctgggcaggtattacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgactccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgggaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtgtcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagacggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccctggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacaggaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggctcaaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagagcaaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccgagaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaatcgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaacacacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattccacaacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacacagccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataacctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccaccagcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacacatgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggtgtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaagattacagtaaaaaaaaaaaaaaaaaaaaaaaggaaaggaaatattgtgttaattcagtcagtgactatggggacacaacagttgagctttcaggaaagaaagaaaaatggctgttagagccgcttcagttctacaattgtgtcctgtattgtaccactggggaaggaatggacttgaaacaaggacctttgtatacagaaggcacgatatcagttggaacaaatcttcattttggtatccaaacttttattcattttggtgtattatttgtaaatgggcatttgtatgttataatgaaaaaaagaacaatgtagactggatggatgtttgatctgtgttggtcatgaagttgttttttttttttttaaaaagaaaaccatgatcaacaagctttgccacgaatttaagagttttatcaagatatatcgaatacttctacccatctgttcatagtttatggactgatgttccaagtttgtatcattcctttgcatataattaaacctggaacaacatgcactagatttatgtcagaaatatctgttggttttccaaaggttgttaacagatgaagtttatgtgcaaaaaagggtaagatataaattcaaggaagaaaaaaagttgatagctaaaaggtagagtgtgtcttcgatataatccaatttgttttatgtcaaaatgtaagtatttgtcttccctagaaatcctcagaatgatttctataataaagttaatttcatttatatttgacaagaatatagatgttttatacacattttcatgcaatcatacgtttcttttttggccagcaaaagttaattgttcttagatatagttgtattactgttcacggtccaatcattttgtgcatctagagttcattcctaatcaattaaaagtgcttgcaagagttttaaacttaagtgttttgaagttgttcacaactacatatcaaaattaaccattgttgattgtaaaaaaccatgccaaagcctttgtatttcctttattatacagttttctttttaaccttatagtgtggtgttacaaattttatttccatgttagatcaacattctaaaccaatggttactttcacacacactctgttttacatcctgatgatccttaaaaaataatccttatagataccataaatcaaaaacgtgttagaaaaaaattccacttacagcagggtgtagatctgtgcccatttatacccacaacatatatacaaaatggtaacatttcccagttagccatttaattctaaagctcaaagtctagaaataatttaaaaatgcaacaagcgattagctaggaattgttttttgaattaggactggcattttcaatctgggcagatttccattgtcagcctatttcaacaatgatttcactgaagtatattcaaaagtagatttcttaaaggagactttctgaaagctgttgcctttttcaaataggccctctcccttttctgtctccctcccctttgcacaagaggcatcatttcccattgaaccactacagctgttcccatttgaatcttgctttctgtgcggttgtggatggttggagggtggaggggggatgttgcatgtcaaggaataatgagcacagacacatcaacagacaacaacaaagcagactgtgactggccggtgggaattaaaggccttcagtcattggcagcttaagccaaacattcccaaatctatgaagcagggcccattgttggtcagttgttatttgcaatgaagcacagttctgatcatgtttaaagtggaggcacgcagggcaggagtgcttgagcccaagcaaaggatggaaaaaaataagcctttgttgggtaaaaaaggactgtctgagactttcatttgttctgtgcaacatataagtcaatacagataagtcttcctctgcaaacttcactaaaaagcctgggggttctggcagtctagattaaaatgcttgcacatgcagaaacctctggggacaaagacacacttccactgaattatactctgctttaaaaaaatccccaaaagcaaatgatcagaaatgtagaaattaatggaaggatttaaacatgaccttctcgttcaatatctactgttttttagttaaggaattacttgtgaacagataattgagattcattgctccggcatgaaatatactaataattttattccaccagagttgctgcacatttggagacaccttcctaagttgcagtttttgtatgtgtgcatgtagttttgttcagtgtcagcctgcactgcacagcagcacatttctgcaggggagtgagcacacatacgcactgttggtacaattgccggtgcagacatttctacctcctgacattttgcagcctacattccctgagggctgtgtgctgagggaactgtcagagaagggctatgtgggagtgcatgccacagctgctggctggcttacttcttccttctcgctggctgtaatttccaccacggtcaggcagccagttccggcccacggttctgttgtgtagacagcagagactttggagacccggatgtcgcacgccaggtgcaagaggtgggaatgggagaaaaggagtgacgtgggagcggagggtctgtatgtgtgcacttgggcacgtatatgtgtgctctgaaggtcaggattgccagggcaaagtagcacagtctggtatagtctgaagaagcggctgctcagctgcagaagccctctggtccggcaggatgggaacggctgccttgccttctgcccacaccctagggacatgagctgtccttccaaacagagctccaggcactctcttggggacagcatggcaggctctgtgtggtagcagtgcctgggagttggccttttactcattgttgaaataatttttgtttattatttatttaacgatacatatatttatatatttatcaatggggtatctgcagggatgttttgacaccatcttccaggatggagattatttgtgaagacttcagtagaatcccaggactaaacgtctaaattttttctccaaacttgactgacttgggaaaaccaggtgaatagaataagagctgaatgttttaagtaataaacgttcaaactgctctaagtaaaaaaatgcattttactgcaatgaatttctagaatatttttcccccaaagctatgcctcctaacccttaaatggtgaacaactggtttcttgctacagctcactgccatttcttcttactatcatcactaggtttcctaagattcactcatacagtattatttgaagattcagctttgttctgtgaatgtcatcttaggattgtgtctatattcttttgcttatttctttttactctgggcctctcatactagtaagattttaaaaagccttttcttctctgtatgtttggctcaccaaggcgaaatatatattcttctctttttcatttctcaagaataaacctcatctgcttttttgtttttctgtgttttggcttggtactgaatgactcaactgctcggttttaaagttcaaagtgtaagtacttagggttagtactgcttatttcaataatgttgacggtgactatctttggaaagcagtaacatgctgtcttagaaatgacattaataatgggcttaaacaaatgaataggggggtccccccactctccttttgtatgcctatgtgtgtctgatttgttaaaagatggacagggaattgattgcagagtgtcgcttccttctaaagtagttttattttgtctactgttagtatttaaagatcctggaggtggacataaggaataaatggaagagaaaagtagatattgtatggtggctactaaaaggaaattcaaaaagtcttagaacccgagcacctgagcaaactgcagtagtcaaaatatttatctcatgttaaagaaaggcaaatctagtgtaagaaatgagtaccatatagggttttgaagttcatatactagaaacacttaaaagatatcatttcagatattacgtttggcattgttcttaagtatttatatctttgagtcaagctgataattaaaaaaaatctgttaatggagtgtatatttcataatgtatcaaaatggtgtctatacctaaggtagcattattgaagagagatatgtttatgtagtaagttattaacataatgagtaacaaataatgtttccagaagaaaggaaaacacattttcagagtgcgtttttatcagaggaagacaaaaatacacacccctctccagtagcttatttttacaaagccggcccagtgaattagaaaaacaaagcacttggatatgatttttggaaagcccaggtacacttattattcaaaatgcacttttactgagtttgaaaagtttcttttatatttaaaataagggttcaaatatgcatattcaatttttatagtagttatctatttgcaaagcatatattaactagtaattggctgttaattttatagacatggtagccagggaagtatatcaatgacctattaagtattttgacaagcaatttacatatctgatgacctcgtatctctttttcagcaagtcaaatgctatgtaattgttccattgtgtgttgtataaaatgaatcaacacggtaagaaaaaggttagagttattaaaataataaactgactaaaatactcatttgaatttattcagaatgttcataatgctttcaaaggacatagcagagcttttgtggagtatccgcacaacattatttattatctatggactaaatcaattttttgaagttgctttaaaatttaaaagcacctttgcttaatataaagccctttaattttaactgacagatcaattctgaaactttattttgaaaagaaaatggggaagaatctgtgtctttagaattaaaagaaatgaaaaaaataaacccgacattctaaaaaaatagaataagaaacctgatttttagtactaatgaaatagcgggtgacaaaatagttgtctttttgattttgatcacaaaaaataaactggtagtgacaggatatgatggagagatttgacatcctggcaaatcactgtcattgattcaattattctaattctgaataaaagctgtatacagtaaaa
//
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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