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2025-05-09 20:26:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199770 2872 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA. ACCESSION NM_001199770 VERSION NM_001199770.1 GI:315113902 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 2872) AUTHORS Liu,X., Malenfant,P., Reesor,C., Lee,A., Hudson,M.L., Harvard,C., Qiao,Y., Persico,A.M., Cohen,I.L., Chudley,A.E., Forster-Gibson,C., Rajcan-Separovic,E., Lewis,M.E. and Holden,J.J. TITLE 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders JOURNAL Eur. J. Hum. Genet. 19 (12), 1264-1270 (2011) PUBMED 21750575 REMARK GeneRIF: XPO1 and OXT1 may contribute to ASD in 2p15-p16.1 deletion cases and non-deletion cases of ASD mapping to this chromosome region. REFERENCE 2 (bases 1 to 2872) AUTHORS Terrinoni,A., Pagani,I.S., Zucchi,I., Chiaravalli,A.M., Serra,V., Rovera,F., Sirchia,S., Dionigi,G., Miozzo,M., Frattini,A., Ferrari,A., Capella,C., Pasquali,F., Curto,F.L., Albertini,A., Melino,G. and Porta,G. TITLE OTX1 expression in breast cancer is regulated by p53 JOURNAL Oncogene 30 (27), 3096-3103 (2011) PUBMED 21478910 REMARK GeneRIF: established that the p53 protein directly induces OTX1 expression by acting on its promoter Erratum:[Oncogene. 2011 Jul 7;30(27):3104. Curto, F L [corrected to Curto, F Lo]] REFERENCE 3 (bases 1 to 2872) AUTHORS Larsen,K.B., Lutterodt,M.C., Mollgard,K. and Moller,M. TITLE Expression of the homeobox genes OTX2 and OTX1 in the early developing human brain JOURNAL J. Histochem. Cytochem. 58 (7), 669-678 (2010) PUBMED 20354145 REMARK GeneRIF: The early expression of OTX1 in proliferative cell layers of the human fetal brain supports the concept that this homeobox gene is important in neuronal cell development and differentiation. REFERENCE 4 (bases 1 to 2872) AUTHORS Omodei,D., Acampora,D., Russo,F., De Filippi,R., Severino,V., Di Francia,R., Frigeri,F., Mancuso,P., De Chiara,A., Pinto,A., Casola,S. and Simeone,A. TITLE Expression of the brain transcription factor OTX1 occurs in a subset of normal germinal-center B cells and in aggressive Non-Hodgkin Lymphoma JOURNAL Am. J. Pathol. 175 (6), 2609-2617 (2009) PUBMED 19893048 REMARK GeneRIF: This study identifies OTX1 as a molecular marker for high-grade germinal center derived Non-Hodgkin Lymphoma REFERENCE 5 (bases 1 to 2872) AUTHORS Puelles,E., Annino,A., Tuorto,F., Usiello,A., Acampora,D., Czerny,T., Brodski,C., Ang,S.L., Wurst,W. and Simeone,A. TITLE Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain JOURNAL Development 131 (9), 2037-2048 (2004) PUBMED 15105370 REFERENCE 6 (bases 1 to 2872) AUTHORS Francks,C., Fisher,S.E., Olson,R.K., Pennington,B.F., Smith,S.D., DeFries,J.C. and Monaco,A.P. TITLE Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1 JOURNAL Psychiatr. Genet. 12 (1), 35-41 (2002) PUBMED 11901358 REMARK GeneRIF: Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus candidate gene REFERENCE 7 (bases 1 to 2872) AUTHORS Weimann,J.M., Zhang,Y.A., Levin,M.E., Devine,W.P., Brulet,P. and McConnell,S.K. TITLE Cortical neurons require Otx1 for the refinement of exuberant axonal projections to subcortical targets JOURNAL Neuron 24 (4), 819-831 (1999) PUBMED 10624946 REFERENCE 8 (bases 1 to 2872) AUTHORS Nagao,T., Leuzinger,S., Acampora,D., Simeone,A., Finkelstein,R., Reichert,H. and Furukubo-Tokunaga,K. TITLE Developmental rescue of Drosophila cephalic defects by the human Otx genes JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (7), 3737-3742 (1998) PUBMED 9520436 REFERENCE 9 (bases 1 to 2872) AUTHORS Kastury,K., Druck,T., Huebner,K., Barletta,C., Acampora,D., Simeone,A., Faiella,A. and Boncinelli,E. TITLE Chromosome locations of human EMX and OTX genes JOURNAL Genomics 22 (1), 41-45 (1994) PUBMED 7959790 REFERENCE 10 (bases 1 to 2872) AUTHORS Simeone,A., Acampora,D., Mallamaci,A., Stornaiuolo,A., D'Apice,M.R., Nigro,V. and Boncinelli,E. TITLE A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo JOURNAL EMBO J. 12 (7), 2735-2747 (1993) PUBMED 8101484 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM720707.1, AC009501.4, AK095680.1 and BU689444.1. Summary: This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternate splicing results in two transcript variants that encoded the same protein.[provided by RefSeq, Dec 2010]. Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein. 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 :: BM720707.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-46 BM720707.1 3-48 47-47 AC009501.4 46448-46448 48-582 BM720707.1 49-583 583-2193 AK095680.1 555-2165 2194-2872 BU689444.1 1-679 c FEATURES Location/Qualifiers source 1..2872 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13" gene 1..2872 /gene="OTX1" /note="orthodenticle homeobox 1" /db_xref="GeneID:5013" /db_xref="HGNC:8521" /db_xref="MIM:600036" exon 1..96 /gene="OTX1" /inference="alignment:Splign:1.39.8" exon 97..165 /gene="OTX1" /inference="alignment:Splign:1.39.8" misc_feature 157..159 /gene="OTX1" /note="upstream in-frame stop codon" exon 166..373 /gene="OTX1" /inference="alignment:Splign:1.39.8" variation 239 /gene="OTX1" /replace="c" /replace="t" /db_xref="dbSNP:373766083" variation 249 /gene="OTX1" /replace="g" /replace="t" /db_xref="dbSNP:368588963" variation 265 /gene="OTX1" /replace="c" /replace="t" /db_xref="dbSNP:372348915" variation 267..268 /gene="OTX1" /replace="" /replace="ag" /db_xref="dbSNP:34187380" CDS 277..1341 /gene="OTX1" /note="orthodenticle homolog 1" /codon_start=1 /product="homeobox protein OTX1" /protein_id="NP_001186699.1" /db_xref="GI:315113903" /db_xref="CCDS:CCDS1873.1" /db_xref="GeneID:5013" /db_xref="HGNC:8521" /db_xref="MIM:600036" /translation="
MMSYLKQPPYGMNGLGLAGPAMDLLHPSVGYPATPRKQRRERTTFTRSQLDVLEALFAKTRYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQQQQSGSGTKSRPAKKKSSPVRESSGSESSGQFTPPAVSSSASSSSSASSSSANPAAAAAAGLGGNPVAAASSLSTPAASSIWSPASISPGSAPASVSVPEPLAAPSNTSCMQRSVAAGAATAAASYPMSYGQGGSYGQGYPTPSSSYFGGVDCSSYLAPMHSHHHPHQLSPMAPSSMAGHHHHHPHAHHPLSQSSGHHHHHHHHHHQGYGGSGLAFNSADCLDYKEPGAAAASSAWKLNFNSPDCLDYKDQASWRFQVL
"
misc_feature 391..567
/gene="OTX1"
/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:28970"
misc_feature order(391..405,409..411,460..462,478..480,517..519,
523..528,535..540,544..552,556..561)
/gene="OTX1"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(397..399,406..408,526..528,535..540,547..549)
/gene="OTX1"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature <1003..1098
/gene="OTX1"
/note="Otx1 transcription factor; Region: TF_Otx;
pfam03529"
/db_xref="CDD:146262"
STS 277..1341
/gene="OTX1"
/standard_name="Otx1"
/db_xref="UniSTS:507882"
STS 277..420
/gene="OTX1"
/standard_name="Otx1"
/db_xref="UniSTS:144102"
variation 298
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369382436"
variation 303
/gene="OTX1"
/replace="a"
/replace="t"
/db_xref="dbSNP:147660988"
variation 316
/gene="OTX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:150197048"
exon 374..525
/gene="OTX1"
/inference="alignment:Splign:1.39.8"
STS 403..489
/gene="OTX1"
/standard_name="Otx1"
/db_xref="UniSTS:164914"
variation 486
/gene="OTX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138715032"
exon 526..2856
/gene="OTX1"
/inference="alignment:Splign:1.39.8"
variation 543
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376046840"
variation 585
/gene="OTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:369351862"
variation 610
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146221955"
variation 633
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373004027"
variation 639
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:75832508"
variation 674
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141612476"
variation 689
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376661345"
variation 724
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375359674"
variation 768
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:113447095"
variation 797
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369069078"
variation 815
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200204127"
variation 852
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199519181"
variation 862
/gene="OTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:374452924"
variation 865
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372442766"
variation 899
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375731189"
variation 922
/gene="OTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:111429182"
variation 952
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61742369"
variation 983
/gene="OTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:34233500"
variation 1007
/gene="OTX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:377736206"
variation 1011
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370878093"
variation 1032
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373207054"
variation 1068
/gene="OTX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:17850223"
variation 1171
/gene="OTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:377143280"
variation 1212
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142456387"
variation 1216
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370605334"
variation 1295
/gene="OTX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:142247365"
variation 1327
/gene="OTX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:75472776"
variation 1332
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140878342"
variation 1361
/gene="OTX1"
/replace="c"
/replace="g"
/db_xref="dbSNP:367951137"
variation 1412
/gene="OTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:12613621"
variation 1421
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:75938487"
variation 1518
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372345332"
variation 1573
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374357286"
variation 1877
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:187464743"
variation 1983
/gene="OTX1"
/replace="g"
/replace="t"
/db_xref="dbSNP:139417747"
variation 2158..2159
/gene="OTX1"
/replace=""
/replace="at"
/replace="ta"
/db_xref="dbSNP:148454797"
variation 2570..2571
/gene="OTX1"
/replace=""
/replace="gtca"
/db_xref="dbSNP:72382277"
variation 2619..2620
/gene="OTX1"
/replace=""
/replace="ta"
/db_xref="dbSNP:72298697"
variation 2658
/gene="OTX1"
/replace="a"
/replace="c"
/db_xref="dbSNP:75162241"
variation 2666
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114310934"
variation 2686
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367962319"
variation 2688..2689
/gene="OTX1"
/replace=""
/replace="gc"
/db_xref="dbSNP:71862991"
variation 2717
/gene="OTX1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372188590"
variation 2803
/gene="OTX1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1061384"
polyA_signal 2837..2842
/gene="OTX1"
polyA_site 2856
/gene="OTX1"
ORIGIN
ggacgctgggctccaacgtttcagtagaagcgcttaagacttgcaaacacccttggtggggacctggaaccccgggagatgccgacgagcaagcaggttggctgcccggcgggtctctgtgagagatccaggtagatggtgaacggccccggcagctgagggcaggccaggcccccagacgcatcagaccctgaaggactgcgtggtgggagccctgcaccgctcctggccccgggccccctggatccgtcggggcgcctccacccagctgttagcatgatgtcttacctcaaacaacccccatacggcatgaacgggctgggcctggccgggcccgccatggacctcctgcacccatccgtgggctatccggccactccgcggaagcagcggcgggagcgcaccaccttcacgcgttcacagctggacgtgctcgaggcgctcttcgccaagactcgctaccctgacatcttcatgcgggaggaggtggcgctcaagatcaacctgccggagtctagagtccaggtctggttcaagaaccgccgcgccaaatgccgccagcagcagcagagcgggagcggaaccaagagccgcccagccaagaagaagtcctctccagtgcgggagagctcgggctccgaaagcagtggccaattcacgccgccagctgtgtccagctctgcctcgtcctctagctcggcgtccagctcttccgccaacccagcggctgcagcggctgcgggactaggtgggaacccggtggcggccgcgtcgtcgctgagtacaccagctgcctcatctatctggagcccggcctccatctcgccaggctcagcgcccgcgtccgtgtcggtgccggagccattggccgcgcctagcaacacctcgtgtatgcagcgctccgtagctgcaggcgccgccaccgcagcagcctcttatcccatgtcctacggccagggcggcagctacggccaaggctaccctacgccctcctcttcctactttggcggcgtggactgcagctcatacctagcgcccatgcactcacatcaccacccgcaccagctcagccccatggcaccctcctccatggcgggccaccatcatcaccacccacatgcgcaccacccgttgagccagtcctcaggccaccaccaccaccatcaccaccaccaccaccaaggctacggtggctctgggcttgccttcaactctgccgactgcttggattacaaggagcctggcgccgctgctgcttcctccgcctggaaactcaacttcaactcccccgactgtctggactataaggaccaagcctcatggcggttccaggtcttgtgagcccaggaatgaaagaggagaagaaacgcaactacctgcgccctccgtggtcccgatcctgttgctgctgctgcaccgcccgcctttgcctcgtcttctccaaaactgaattttcaccccccaaaaagatgtccattgcctgcactgccgcccccatttttgtgccacttgcttggggggatgtgcaaacccaccctgccccttggatggggggaccggtgcttcggcttggcctacacattctatacaggagagatgtattatttccccccttcagcccctactaaactcttaagcctccccttccagtctttctggacagctattaagcacttgcagccttcggaggctctgcgctctgatccgctgtttgagcccaacactttaatttattctttctggacactggagtcactaactggcgtgtttctgcccattggagcacccgcacactactccaaatcaaaaccactaagagttcctcccgcgcagactgctgccccttcagctgccctcgattttgctccacgcctgccggccagagcctcccggcgtttcttccgccccagcggagtgcgctggggcgcgccagggctaggcccgccggaggagcgcgtccccagccttccgcgcacagagccgcatcccgccccgccctgcgctggactggttcaagcttccgcctcggcgggaacgctgtacatagtcaggtccgttccagggaccacttaaactttttagttgctgttggttggttgaactgaacatatcttgtcttagcacccaggaaacagaactttaagatatatacagcacatatatatatatatacatatatatatacacatatataaaaaacaaaagcaaaaaatattttccctctgtccgtcccccttctgctcttcctcaatcaatggcgctttttctttttcagttgttgcaaagctgccctgccctcttcacatcttctccctctgtgtatttattgaagagaaccgcttggtttcaggaagctgggcgcgggatatccgaagtgtggaggaaacagacaagtcagggtacagaggtgggggttgggcaggggcgcagggctgaccccctcacccggtctaagcacagggtcgcagttccagtttacaaacctaaaacaagaaaaccaaaaccagggaacaaaacaacaaaacaaaacaaaatccgtaaaagtacagcattagggaaaaacaaacaaacccaggccccaaacccagttccaactcctctgtcggcttctctctttcaacacccttgttttgtctagtgagtttttagtgcaccttcgttctccgaaatctgcggagagcccgcgcgcctgtgtatcaattttggctttggccgcttcgtccagtaggtgggaaagtaatttgtaaatttgatttgtctgatgtgaagatcacaaattacttgttgaaatgtaaggcagtccccctcctcctctttatctacattacttcccgaaaataaatgcaaattaatgaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5013 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
GeneID:5013 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:5013 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS
GeneID:5013 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:5013 -> Biological process: GO:0007275 [multicellular organismal development] evidence: NAS
GeneID:5013 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA
GeneID:5013 -> Biological process: GO:0022037 [metencephalon development] evidence: IEA
GeneID:5013 -> Biological process: GO:0030901 [midbrain development] evidence: IEA
GeneID:5013 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
GeneID:5013 -> Biological process: GO:0048852 [diencephalon morphogenesis] evidence: IEA
GeneID:5013 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
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