2025-05-09 20:14:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001014434 2078 bp mRNA linear PRI 18-APR-2013 DEFINITION Homo sapiens LIM homeobox 9 (LHX9), transcript variant 2, mRNA. ACCESSION NM_001014434 VERSION NM_001014434.1 GI:62241032 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 2078) 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 2078) 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 2078) 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 2078) 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 2078) 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 2078) 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 AA316988.1, AJ277915.1 and AY273889.2. 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 (2) differs in the 5' UTR and coding region compared to variant 1, resulting in a protein that maintains the reading frame but has a shorter N-terminus. ##Evidence-Data-START## Transcript exon combination :: AJ277915.1 [ECO:0000332] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-27 AA316988.1 1-27 28-1191 AJ277915.1 1-1164 1192-2078 AY273889.2 1629-2515 FEATURES Location/Qualifiers source 1..2078 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q31.1" gene 1..2078 /gene="LHX9" /note="LIM homeobox 9" /db_xref="GeneID:56956" /db_xref="HGNC:14222" /db_xref="MIM:606066" exon 1..55 /gene="LHX9" /inference="alignment:Splign:1.39.8" misc_feature 4..6 /gene="LHX9" /note="upstream in-frame stop codon" variation 9 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:375387397" variation 14 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:200719762" variation 20 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:371771009" CDS 28..1194 /gene="LHX9" /note="isoform 2 is encoded by transcript variant 2; LIM/homeobox protein Lhx9; LIM homeobox protein 9" /codon_start=1 /product="LIM/homeobox protein Lhx9 isoform 2" /protein_id="NP_001014434.1" /db_xref="GI:62241033" /db_xref="CCDS:CCDS30962.1" /db_xref="GeneID:56956" /db_xref="HGNC:14222" /db_xref="MIM:606066" /translation="
MLNGTTLEAAMLFHGISGGHIQGIMEEMERRSKTEARLAKGAQLNGRDAGMPPLSPEKPALCAGCGGKISDRYYLLAVDKQWHLRCLKCCECKLALESELTCFAKDGSIYCKEDYYRRFSVQRCARCHLGISASEMVMRARDSVYHLSCFTCSTCNKTLTTGDHFGMKDSLVYCRAHFETLLQGEYPPQLSYTELAAKSGGLALPYFNGTGTVQKGRPRKRKSPALGVDIVNYNSGCNENEADHLDRDQQPYPPSQKTKRMRTSFKHHQLRTMKSYFAINHNPDAKDLKQLAQKTGLTKRVLQVWFQNARAKFRRNLLRQENGGVDKADGTSLPAPPSADSGALTPPGTATTLTDLTNPTITVVTSVTSNMDSHESGSPSQTTLTNLF
" misc_feature 181..372 /gene="LHX9" /note="The first LIM domain of Lhx2; Region: LIM1_Lhx2; cd09469" /db_xref="CDD:188853" misc_feature order(211..213,220..222,274..276,283..285,292..294, 301..303,358..360,367..369) /gene="LHX9" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188853" misc_feature 385..561 /gene="LHX9" /note="The second LIM domain of Lhx2 and Lhx9 family; Region: LIM2_Lhx2_Lhx9; cd09377" /db_xref="CDD:188763" misc_feature order(397..399,406..408,463..465,472..474,481..483, 490..492,547..549,556..558) /gene="LHX9" /note="Zn binding site [ion binding]; other site" /db_xref="CDD:188763" misc_feature 802..975 /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(802..816,820..822,871..873,889..891,928..930, 934..939,946..951,955..963,967..972) /gene="LHX9" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" misc_feature order(808..810,817..819,937..939,946..951,958..960) /gene="LHX9" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:238039" exon 56..174 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 99 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:201760984" variation 138 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:374479359" variation 142 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:113693840" variation 150 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:201746672" variation 152 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:147454219" variation 167 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:144348823" exon 175..377 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 246 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:139510839" variation 307 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:377269488" exon 378..733 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 510 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:146659273" variation 524 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:74638981" variation 526 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:143996891" variation 565 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:200641597" variation 578 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:372071986" variation 589 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:145525454" variation 607 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:149074150" variation 627..628 /gene="LHX9" /replace="" /replace="g" /db_xref="dbSNP:375826024" variation 628 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:200168581" variation 653 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:374656570" variation 656 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:374017815" variation 663 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:148334914" variation 687 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:368047494" variation 698 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:147043102" variation 712 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:371329562" variation 716 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:183473436" variation 717 /gene="LHX9" /replace="a" /replace="c" /db_xref="dbSNP:201684330" exon 734..936 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 741 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:12046958" STS 772..1006 /gene="LHX9" /standard_name="Lhx9" /db_xref="UniSTS:525919" variation 776 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:372121857" variation 785 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:192831993" variation 807 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:115445561" variation 812 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:184403189" variation 876 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:200789883" exon 937..2078 /gene="LHX9" /inference="alignment:Splign:1.39.8" variation 992 /gene="LHX9" /replace="a" /replace="t" /db_xref="dbSNP:139884549" variation 1033 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:372714030" variation 1054 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:376004736" variation 1069 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:369709160" variation 1125 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:202120884" variation 1161 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:74697737" variation 1186 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:375493889" variation 1200..1201 /gene="LHX9" /replace="" /replace="t" /db_xref="dbSNP:111260868" variation 1202 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:369694327" variation 1229 /gene="LHX9" /replace="c" /replace="g" /db_xref="dbSNP:373458786" variation 1274 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:189939240" variation 1661 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:181449909" variation 1812 /gene="LHX9" /replace="a" /replace="g" /db_xref="dbSNP:199896763" variation 1827 /gene="LHX9" /replace="c" /replace="t" /db_xref="dbSNP:186139205" variation 1846 /gene="LHX9" /replace="g" /replace="t" /db_xref="dbSNP:142625651" variation 1863 /gene="LHX9" /replace="" /replace="t" /db_xref="dbSNP:200169822" ORIGIN
gcgtgatccactccttttcctctaagaatgctgaacggtaccactctagaggcagccatgctctttcacgggatctccggaggccacatccaaggcatcatggaggagatggagcgcagatccaagactgaggcccgtctggccaaaggcgcccagctcaacggccgcgacgcgggcatgcccccgctcagcccggagaagcccgccctgtgcgccggctgcgggggcaagatctcggacaggtactatctgctggctgtggacaaacagtggcatctgagatgcctgaagtgctgtgaatgtaagctggccctcgagtccgagctcacctgctttgccaaggacggtagcatttactgcaaggaggattactacagaaggttctctgtgcagagatgtgcccgctgccaccttggcatttccgcctcggagatggtcatgcgcgcccgagactctgtctaccacctgagctgcttcacctgctccacttgcaacaagactctgaccacgggcgaccatttcggcatgaaggacagcctggtgtactgccgcgcccacttcgagaccctcttgcaaggagagtatccaccgcagctgagctacacggagctggcggccaagagcggcggcctggccctgccttacttcaacggtacgggcaccgtgcagaaagggcggccccggaagcggaagagcccagcgctgggagtggacatcgtcaattacaactcaggttgtaatgagaatgaggcagaccacttggaccgggaccagcagccttatccaccctcgcagaagaccaagcgcatgcgaacctctttcaagcatcaccagctccggaccatgaaatcctactttgccatcaaccacaacccggatgccaaggacctcaagcagcttgcccagaaaacaggtctgaccaaaagagttttgcaggtttggttccaaaacgcacgagccaaattcagaaggaaccttttgcggcaggagaatgggggtgttgataaagctgacggcacgtcgcttccggccccgccctcagcagacagcggagctctcactccacccggcactgcgaccactttaacagacctgaccaatcccactatcactgtagtgacatccgtgacctctaacatggacagccacgaatccggaagcccctcacaaactaccttaacaaaccttttctaacattggttttttttttttagtttttaaattcttcctcttctttttattattattctaattattattattttattatttacaagactttttttttcttctaacccacaagatatttggggaataaaaataacagcttggtgtgtagcatctgcagccacttggcaaatgagtttacagtattgtctcctttaagtgaatatattttgtctacaaagtgtatttggatttaaaaaaattaattaggtctttcagttggtaaggagagtttttgaataattctaataagtgcctcttaaaattgtatgttacttatttccagaatctcgaagaaaaaagaaaaaagagtggtattattatgggcaaataatcatattcccacttaaatgattaggttaataaagaaccagataattaattagttactttttaaatcttgcaattgtatgtgtgattatggagttttgaaaacgttacattttttaaatcttaaaactgaaaacttgtttttagtatttctatttcttacctgaactgttaattcaagtgaggaatatgatgaaataaaagcattaactacagacattttaaatagtaatgattaattaggtgagaaatctattacaggaatgtgacttttccttctcttaggggtgtacaactctaaaaactttttacttggttatttgtttttcaacatttgaaaaatacttaagctccctatgtatccatgaaaattccgcattgattttgacattccatacttttaacctcctaaagctaaaaacaatagctcggaaaccattctttctagttactttttttcccagggaaaatggaaataagcaaaatataatgttttaagaagtaaaaaaatcaatataatt
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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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