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2024-04-24 19:06:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032109 2702 bp mRNA linear PRI 18-APR-2013 DEFINITION Homo sapiens orthopedia homeobox (OTP), mRNA. ACCESSION NM_032109 XM_937572 VERSION NM_032109.2 GI:24497624 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 2702) AUTHORS Kim,M.S., Lee,J., Oh,T., Moon,Y., Chang,E., Seo,K.S., Hoehn,B.D., An,S. and Lee,J.H. TITLE Genome-wide identification of OTP gene as a novel methylation marker of breast cancer JOURNAL Oncol. Rep. 27 (5), 1681-1688 (2012) PUBMED 22366991 REMARK GeneRIF: we successfully identified a novel gene OTP frequently methylated in breast cancer by genome-wide screening. Our results suggest that the OTP gene may play a crucial role in breast carcinogenesis. REFERENCE 2 (bases 1 to 2702) AUTHORS Lin,X., State,M.W., Vaccarino,F.M., Greally,J., Hass,M. and Leckman,J.F. TITLE Identification, chromosomal assignment, and expression analysis of the human homeodomain-containing gene Orthopedia (OTP) JOURNAL Genomics 60 (1), 96-104 (1999) PUBMED 10458915 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC001800.1. On or before Mar 4, 2006 this sequence version replaced gi:88988353, gi:14149759. Summary: This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC001800.1, BE257728.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..2702 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5q13.3" gene 1..2702 /gene="OTP" /note="orthopedia homeobox" /db_xref="GeneID:23440" /db_xref="HGNC:8518" /db_xref="HPRD:05166" /db_xref="MIM:604529" exon 1..185 /gene="OTP" /inference="alignment:Splign:1.39.8" misc_feature 92..94 /gene="OTP" /note="upstream in-frame stop codon" STS 120..1710 /gene="OTP" /db_xref="UniSTS:493921" STS 120..1684 /gene="OTP" /db_xref="UniSTS:482667" variation complement(120..121) /gene="OTP" /replace="" /replace="g" /db_xref="dbSNP:199753477" variation complement(123) /gene="OTP" /replace="c" /replace="g" /db_xref="dbSNP:370139326" CDS 149..1126 /gene="OTP" /note="orthopedia homolog" /codon_start=1 /product="homeobox protein orthopedia" /protein_id="NP_115485.1" /db_xref="GI:14149760" /db_xref="CCDS:CCDS4039.1" /db_xref="GeneID:23440" /db_xref="HGNC:8518" /db_xref="HPRD:05166" /db_xref="MIM:604529" /translation="
MLSHADLLDARLGMKDAAELLGHREAVKCRLGVGGSDPGGHPGDLAPNSDPVEGATLLPGEDITTVGSTPASLAVSAKDPDKQPGPQGGPNPSQAGQQQGQQKQKRHRTRFTPAQLNELERSFAKTHYPDIFMREELALRIGLTESRVQVWFQNRRAKWKKRKKTTNVFRAPGTLLPTPGLPQFPSAAAAAAAAMGDSLCSFHANDTRWAAAAMPGVSQLPLPPALGRQQAMAQSLSQCSLAAGPPPNSMGLSNSLAGSNGAGLQSHLYQPAFPGMVPASLPGPSNVSGSPQLCSSPDSSDVWRGTSIASLRRKALEHTVSMSFT
"
misc_feature 464..610
/gene="OTP"
/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(464..475,479..481,530..532,548..550,587..589,
593..598,605..610)
/gene="OTP"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:238039"
misc_feature order(467..469,476..478,596..598,605..610)
/gene="OTP"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:238039"
misc_feature 1049..1111
/gene="OTP"
/note="OAR domain; Region: OAR; pfam03826"
/db_xref="CDD:146451"
misc_feature 1064..1105
/gene="OTP"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q5XKR4.1);
Region: OAR"
variation complement(160)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:35976259"
exon 186..595
/gene="OTP"
/inference="alignment:Splign:1.39.8"
variation complement(187)
/gene="OTP"
/replace="g"
/replace="t"
/db_xref="dbSNP:35484706"
variation complement(245)
/gene="OTP"
/replace="g"
/replace="t"
/db_xref="dbSNP:374616762"
STS 280..978
/gene="OTP"
/standard_name="bnlg1246b"
/db_xref="UniSTS:472187"
variation complement(349)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:150715110"
variation complement(358)
/gene="OTP"
/replace="g"
/replace="t"
/db_xref="dbSNP:141172285"
variation complement(360)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:185198254"
variation complement(367)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:370680168"
variation complement(378)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:199908221"
variation complement(387)
/gene="OTP"
/replace="a"
/replace="c"
/db_xref="dbSNP:148166215"
variation complement(394)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:368597395"
variation complement(395)
/gene="OTP"
/replace="a"
/replace="c"
/db_xref="dbSNP:143794465"
variation complement(399)
/gene="OTP"
/replace="c"
/replace="g"
/db_xref="dbSNP:374412480"
variation complement(401)
/gene="OTP"
/replace="c"
/replace="g"
/db_xref="dbSNP:77880799"
variation complement(432)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:148662448"
variation complement(452)
/gene="OTP"
/replace="a"
/replace="c"
/db_xref="dbSNP:199804262"
variation complement(457)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:371160532"
exon 596..2678
/gene="OTP"
/inference="alignment:Splign:1.39.8"
variation complement(637)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:13357072"
variation complement(736)
/gene="OTP"
/replace="c"
/replace="g"
/db_xref="dbSNP:368862933"
variation complement(814)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:375349657"
variation complement(868)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:372055460"
variation complement(879)
/gene="OTP"
/replace="g"
/replace="t"
/db_xref="dbSNP:202055986"
variation complement(925)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:184625237"
variation complement(929)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:372221593"
variation complement(971)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:375156507"
variation complement(1096)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:368549407"
variation complement(1134)
/gene="OTP"
/replace="a"
/replace="g"
/db_xref="dbSNP:201543714"
variation complement(1221)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:181199080"
variation complement(1395)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:6879117"
variation complement(1446)
/gene="OTP"
/replace="g"
/replace="t"
/db_xref="dbSNP:112520881"
variation complement(1474)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:6878934"
variation complement(1504)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:372530849"
variation complement(1609)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:376908038"
variation complement(1637)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:368524568"
variation complement(1931)
/gene="OTP"
/replace=""
/replace="g"
/db_xref="dbSNP:200858226"
variation complement(1978)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:142599702"
variation complement(2032)
/gene="OTP"
/replace="a"
/replace="t"
/db_xref="dbSNP:116731866"
variation complement(2083)
/gene="OTP"
/replace="a"
/replace="t"
/db_xref="dbSNP:79164838"
STS 2294..2419
/gene="OTP"
/standard_name="RH98803"
/db_xref="UniSTS:88427"
variation complement(2431)
/gene="OTP"
/replace="c"
/replace="t"
/db_xref="dbSNP:200006462"
variation complement(2566)
/gene="OTP"
/replace="c"
/replace="g"
/db_xref="dbSNP:189694343"
variation complement(2599)
/gene="OTP"
/replace="c"
/replace="g"
/db_xref="dbSNP:139985455"
polyA_signal 2655..2660
/gene="OTP"
polyA_site 2678
/gene="OTP"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
ccccctttttaaccacaaaccgaattttctttcatttaggtgatctatatatatctatatcgtatagcttatagcttatatctattttaaataacttaaagccgctaaaatttgggggggaacagctttcgccctggagcggtgcgcgatgctgtctcatgccgacctcctggacgccaggctaggtatgaaagatgccgccgagcttctgggccaccgggaggcggtgaagtgtaggctgggcgtggggggctccgaccccgggggccatccgggggacctggcgcccaactctgacccagtggagggagccactctgctgcccggggaggacatcaccacagtgggctctactccggcctcgctggcggtgagcgccaaagacccggacaagcagcccgggccccagggcggcccgaaccccagccaagccggccagcagcagggccaacagaagcagaagcgccaccggacgcgcttcacccccgcacagctcaacgagttggagaggagcttcgccaagactcactaccccgacatctttatgcgtgaggagctggcactgcgtatcgggctgaccgagtcccgagtgcaggtctggttccagaaccgacgcgccaagtggaagaagcgcaaaaagacgaccaacgtgttccgtgcgcccggcacactgctgcccacgccaggcctgcctcagttcccgtcggctgccgccgccgctgccgccgccatgggcgacagcctgtgctctttccacgccaacgacacccgctgggcggcggccgccatgcctggcgtgtcacagctgcctctgccgccggcgctgggcaggcagcaggccatggcgcagtcgctgtcccagtgcagcctggcggccggtccgccgcccaactccatgggcctgtccaacagcctggcgggttccaacggcgcggggctgcagtcgcacctctaccagcccgccttccccggcatggtgcccgcctccctccccggccccagcaacgtctccggttcgccccagctctgcagctccccggacagcagcgacgtgtggcggggcaccagcatcgcctccctccgccgcaaggcgctagagcacacagtctctatgagcttcacttaatgcagccgcgccccggcccgctccgcccccagcaccgccccgggggccgccccgaggcccttccggcgcgcacccggaccccggcgccctgccccgtcccgccccggccttcgccccgtctcgtttcgtcctcgcctctctcctccactcgctcgggctcaccccaagccccagcccgcgaggcctcccctccgcctgatttcgatcgcccgcggtcccccgtctcccggccgcccctcttcccttcccacccagctgcgccctcggctcggtctccagcgcctcagcccacccttcccgccaccctggcctccctgcttgcgctggccgtgctcgcgccctcctcctggccttctgacgggcggcgttcccacccacaccttcgacgcgacgcctacgacccccctcgcccgccgcctcccctccggtcccctctttccccacacttcgcgaccctcctcccgcgcccggcaaaaagtatccttcccgccattttacgtaccagggagtcgactcaggatctgaaatcagacaccaatggactggtttgtgggcagaaacacacacactcgcactctcgctcacgctcagacgctacacacgcgcgcgcacagacacggtgcacctaggtcacacacggacgtgttcaagggacagcacaatgttagggatttttgtcttaaaggaggacaagcattgctaccaaccgcctcatctgagggcccaactgatatgatttgatttatccttgtactctccaagctcctgtctttctttcctctcccaccacgctacccttgcccagtccacccagtcacatccgtgcagccctctcttggcttgcaagataacgcttttatttttattttatcttattttcattttcttaagcacaactgtgtgagagtgtagaagggaaggcttctcaggaggaacgtgacagtggattgggtggctggagtagactaaagcagtcatgtgacgaggaagaggtgatctgacccattttgataagtctttataaggaagaataaaataaacgtgtaagcaaaattttcttttgtaaaagcaaaagccacatctcttttctggatccttcaggactggggtttgtttgcttccttttctgtttctgtcttctcgctgctctgtgcccttggttgttttgtggtggtcctgtcgtccctcgtgcccctcggccacctgctggcagccgatgggggcactcggacatctacaaccctgcaactttgtacagagaaacacaatcagctctttctgcatgtgctggtcaaatccaaacccagagaacagaagcgctttctaagaatgaacaaatatgtgaaataggatgttttgtgtagataaagcattcttgttacatactggtcaatttgtgatatgttttaacttaatgtctgtgtttatttatggaattcggttttcttaataaatgtttgagctaatataaagcatattatttgacttttccggacaagtttatatcaagttaaatgtaaatggataaaataaaatcattttcagtatgtgaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:23440 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA
GeneID:23440 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:23440 -> Biological process: GO:0002052 [positive regulation of neuroblast proliferation] evidence: IEA
GeneID:23440 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:23440 -> Biological process: GO:0021879 [forebrain neuron differentiation] evidence: IEA
GeneID:23440 -> Biological process: GO:0021979 [hypothalamus cell differentiation] evidence: IEA
GeneID:23440 -> Biological process: GO:0021985 [neurohypophysis development] evidence: IEA
GeneID:23440 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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