2024-03-29 21:07:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020204 2515 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA. ACCESSION NM_020204 VERSION NM_020204.2 GI:33569215 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 2515) AUTHORS Vladimirova,V., Mikeska,T., Waha,A., Soerensen,N., Xu,J., Reynolds,P.C. and Pietsch,T. TITLE Aberrant methylation and reduced expression of LHX9 in malignant gliomas of childhood JOURNAL Neoplasia 11 (7), 700-711 (2009) PUBMED 19568415 REMARK GeneRIF: LHX9 gene is frequently silenced in pediatric malignant astrocytomas REFERENCE 2 (bases 1 to 2515) AUTHORS Avraham,O., Hadas,Y., Vald,L., Zisman,S., Schejter,A., Visel,A. and Klar,A. TITLE Transcriptional control of axonal guidance and sorting in dorsal interneurons by the Lim-HD proteins Lhx9 and Lhx1 JOURNAL Neural Dev 4, 21 (2009) PUBMED 19545367 REMARK GeneRIF: Lhx9 and Lhx1 serve as a binary switch in controlling the rostral versus caudal longitudinal turning of the caudal commissural axons. Lhx1 determines caudal turning and Lhx9 triggers rostral turning. Publication Status: Online-Only REFERENCE 3 (bases 1 to 2515) AUTHORS Barrios-Rodiles,M., Brown,K.R., Ozdamar,B., Bose,R., Liu,Z., Donovan,R.S., Shinjo,F., Liu,Y., Dembowy,J., Taylor,I.W., Luga,V., Przulj,N., Robinson,M., Suzuki,H., Hayashizaki,Y., Jurisica,I. and Wrana,J.L. TITLE High-throughput mapping of a dynamic signaling network in mammalian cells JOURNAL Science 307 (5715), 1621-1625 (2005) PUBMED 15761153 REFERENCE 4 (bases 1 to 2515) AUTHORS Ottolenghi,C., Moreira-Filho,C., Mendonca,B.B., Barbieri,M., Fellous,M., Berkovitz,G.D. and McElreavey,K. TITLE Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis JOURNAL J. Clin. Endocrinol. Metab. 86 (6), 2465-2469 (2001) PUBMED 11397841 REFERENCE 5 (bases 1 to 2515) AUTHORS Retaux,S., Rogard,M., Bach,I., Failli,V. and Besson,M.J. TITLE Lhx9: a novel LIM-homeodomain gene expressed in the developing forebrain JOURNAL J. Neurosci. 19 (2), 783-793 (1999) PUBMED 9880598 REFERENCE 6 (bases 1 to 2515) AUTHORS Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A., Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D., White,O. et al. TITLE Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence JOURNAL Nature 377 (6547 SUPPL), 3-174 (1995) PUBMED 7566098 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY273889.2. On Aug 11, 2003 this sequence version replaced gi:30725888. Summary: This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AY273889.2, BC131622.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025085, ERS025086 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..2515 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q31.1" gene 1..2515 /gene="LHX9" /note="LIM homeobox 9" /db_xref="GeneID:56956" /db_xref="HGNC:14222" /db_xref="HPRD:07299" /db_xref="MIM:606066" exon 1..611 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 29 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:72744982" variation 120 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:112571220" variation 142 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:188941900" variation 167 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:78792205" variation 186 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:79137350" variation 226 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:111613412" variation 249 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:143233310" variation 281 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:193100591" variation 390 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:202051786" variation 400 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:184278663" misc_feature 411..413 /gene="LHX9" /note="upstream in-frame stop codon" variation 428 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:150716946" variation 434 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:201902208" CDS 438..1631 /gene="LHX9" /note="isoform 1 is encoded by transcript variant 1; LIM/homeobox protein Lhx9; LIM homeobox protein 9" /codon_start=1 /product="LIM/homeobox protein Lhx9 isoform 1" /protein_id="NP_064589.2" /db_xref="GI:33569216" /db_xref="CCDS:CCDS1393.1" /db_xref="GeneID:56956" /db_xref="HGNC:14222" /db_xref="HPRD:07299" /db_xref="MIM:606066" /translation="
MEIVGCRAEDNSCPFRPPAMLFHGISGGHIQGIMEEMERRSKTEARLAKGAQLNGRDAGMPPLSPEKPALCAGCGGKISDRYYLLAVDKQWHLRCLKCCECKLALESELTCFAKDGSIYCKEDYYRRFSVQRCARCHLGISASEMVMRARDSVYHLSCFTCSTCNKTLTTGDHFGMKDSLVYCRAHFETLLQGEYPPQLSYTELAAKSGGLALPYFNGTGTVQKGRPRKRKSPALGVDIVNYNSGCNENEADHLDRDQQPYPPSQKTKRMRTSFKHHQLRTMKSYFAINHNPDAKDLKQLAQKTGLTKRVLQVWFQNARAKFRRNLLRQENGGVDKADGTSLPAPPSADSGALTPPGTATTLTDLTNPTITVVTSVTSNMDSHESGSPSQTTLTNLF
" misc_feature 618..809 /gene="LHX9" /note="The first LIM domain of Lhx2; Region: LIM1_Lhx2; cd09469" /db_xref="CDD:188853" misc_feature order(648..650,657..659,711..713,720..722,729..731, 738..740,795..797,804..806) /gene="LHX9" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188853" misc_feature 822..998 /gene="LHX9" /note="The second LIM domain of Lhx2 and Lhx9 family; Region: LIM2_Lhx2_Lhx9; cd09377" /db_xref="CDD:188763" misc_feature order(834..836,843..845,900..902,909..911,918..920, 927..929,984..986,993..995) /gene="LHX9" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188763" misc_feature 1239..1412 /gene="LHX9" /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(1239..1253,1257..1259,1308..1310,1326..1328, 1365..1367,1371..1376,1383..1388,1392..1400,1404..1409) /gene="LHX9" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" misc_feature order(1245..1247,1254..1256,1374..1376,1383..1388, 1395..1397) /gene="LHX9" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:238039" variation 439 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:201066309" variation 485 /gene="LHX9" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:148027167" variation 492 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:12091190" variation 536 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:201760984" variation 575 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:374479359" variation 579 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:113693840" variation 587 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:201746672" variation 589 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:147454219" variation 604 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:144348823" exon 612..814 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 683 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:139510839" variation 744 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:377269488" exon 815..1170 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 947 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:146659273" variation 961 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:74638981" variation 963 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:143996891" variation 1002 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:200641597" variation 1015 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:372071986" variation 1026 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:145525454" variation 1044 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:149074150" variation 1064..1065 /gene="LHX9" /replace="" /replace="g" /db_xref="dbSNP:375826024" variation 1065 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:200168581" variation 1090 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:374656570" variation 1093 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:374017815" variation 1100 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:148334914" variation 1124 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:368047494" variation 1135 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:147043102" variation 1149 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:371329562" variation 1153 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:183473436" variation 1154 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:201684330" exon 1171..1373 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 1178 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:12046958" STS 1209..1443 /gene="LHX9" /standard_name="Lhx9" /db_xref="UniSTS:525919" variation 1213 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:372121857" variation 1222 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:192831993" variation 1244 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:115445561" variation 1249 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:184403189" variation 1313 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:200789883" exon 1374..2515 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 1429 /gene="LHX9" /replace="a" /replace="t" /db_xref="dbSNP:139884549" variation 1470 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:372714030" variation 1491 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:376004736" variation 1506 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:369709160" variation 1562 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:202120884" variation 1598 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:74697737" variation 1623 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:375493889" variation 1637..1638 /gene="LHX9" /replace="" /replace="t" /db_xref="dbSNP:111260868" variation 1639 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:369694327" variation 1666 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:373458786" variation 1711 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:189939240" variation 2098 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:181449909" variation 2249 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:199896763" variation 2264 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:186139205" variation 2283 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:142625651" variation 2300 /gene="LHX9" /replace="" /replace="t" /db_xref="dbSNP:200169822" ORIGIN
ctacaggcactgggaacttgcaagcagccagggaacgctgaaaatagcacgtctttttctttctttgtgttcaaaactattttctttcttcaccagattttgttttcctccccccgctgcagttgtttcccattagtaactcgatctctcagagcagtaagattcgccttctacgcctctttttccctccgcccgaattgtttgttttctgcacatctccttcagggagccgctgaggcttccccccaactcttcccagttctttttgcttcccctcggccccccaagcagaccgatttccactccatctgtttcttctcctcctttctctccctctttccctccatcctcgagcgtctctgcgctcctacagggcagccctctctggtcccttgcctccttcactcggatgagctgaaagccccgggcgtgtgtatatggaaatagtggggtgccgagcagaagacaactcgtgtcctttccgccccccagccatgctctttcacgggatctccggaggccacatccaaggcatcatggaggagatggagcgcagatccaagactgaggcccgtctggccaaaggcgcccagctcaacggccgcgacgcgggcatgcccccgctcagcccggagaagcccgccctgtgcgccggctgcgggggcaagatctcggacaggtactatctgctggctgtggacaaacagtggcatctgagatgcctgaagtgctgtgaatgtaagctggccctcgagtccgagctcacctgctttgccaaggacggtagcatttactgcaaggaggattactacagaaggttctctgtgcagagatgtgcccgctgccaccttggcatttccgcctcggagatggtcatgcgcgcccgagactctgtctaccacctgagctgcttcacctgctccacttgcaacaagactctgaccacgggcgaccatttcggcatgaaggacagcctggtgtactgccgcgcccacttcgagaccctcttgcaaggagagtatccaccgcagctgagctacacggagctggcggccaagagcggcggcctggccctgccttacttcaacggtacgggcaccgtgcagaaagggcggccccggaagcggaagagcccagcgctgggagtggacatcgtcaattacaactcaggttgtaatgagaatgaggcagaccacttggaccgggaccagcagccttatccaccctcgcagaagaccaagcgcatgcgaacctctttcaagcatcaccagctccggaccatgaaatcctactttgccatcaaccacaacccggatgccaaggacctcaagcagcttgcccagaaaacaggtctgaccaaaagagttttgcaggtttggttccaaaacgcacgagccaaattcagaaggaaccttttgcggcaggagaatgggggtgttgataaagctgacggcacgtcgcttccggccccgccctcagcagacagcggagctctcactccacccggcactgcgaccactttaacagacctgaccaatcccactatcactgtagtgacatccgtgacctctaacatggacagccacgaatccggaagcccctcacaaactaccttaacaaaccttttctaacattggttttttttttttagtttttaaattcttcctcttctttttattattattctaattattattattttattatttacaagactttttttttcttctaacccacaagatatttggggaataaaaataacagcttggtgtgtagcatctgcagccacttggcaaatgagtttacagtattgtctcctttaagtgaatatattttgtctacaaagtgtatttggatttaaaaaaattaattaggtctttcagttggtaaggagagtttttgaataattctaataagtgcctcttaaaattgtatgttacttatttccagaatctcgaagaaaaaagaaaaaagagtggtattattatgggcaaataatcatattcccacttaaatgattaggttaataaagaaccagataattaattagttactttttaaatcttgcaattgtatgtgtgattatggagttttgaaaacgttacattttttaaatcttaaaactgaaaacttgtttttagtatttctatttcttacctgaactgttaattcaagtgaggaatatgatgaaataaaagcattaactacagacattttaaatagtaatgattaattaggtgagaaatctattacaggaatgtgacttttccttctcttaggggtgtacaactctaaaaactttttacttggttatttgtttttcaacatttgaaaaatacttaagctccctatgtatccatgaaaattccgcattgattttgacattccatacttttaacctcctaaagctaaaaacaatagctcggaaaccattctttctagttactttttttcccagggaaaatggaaataagcaaaatataatgttttaagaagtaaaaaaatcaatataatt
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:56956 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:56956 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: ISS GeneID:56956 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:56956 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:56956 -> Biological process: GO:0008045 [motor neuron axon guidance] evidence: ISS GeneID:56956 -> Biological process: GO:0008283 [cell proliferation] evidence: IEA GeneID:56956 -> Biological process: GO:0008584 [male gonad development] evidence: IEA GeneID:56956 -> Biological process: GO:0008585 [female gonad development] evidence: IEA GeneID:56956 -> Biological process: GO:0035262 [gonad morphogenesis] evidence: IEA GeneID:56956 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: ISS GeneID:56956 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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