2025-05-09 19:43:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004097 2188 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA. ACCESSION NM_004097 XM_371499 VERSION NM_004097.2 GI:94536799 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 2188) AUTHORS Cocas,L.A., Miyoshi,G., Carney,R.S., Sousa,V.H., Hirata,T., Jones,K.R., Fishell,G., Huntsman,M.M. and Corbin,J.G. TITLE Emx1-lineage progenitors differentially contribute to neural diversity in the striatum and amygdala JOURNAL J. Neurosci. 29 (50), 15933-15946 (2009) PUBMED 20016109 REMARK GeneRIF: An intersectional fate-mapping analysis reveals that transgenic Emx1-lineage cells coexpressing Dlx exclusively generate medium spiny neurons but do not contribute to the excitatory neurons in the amygdala. REFERENCE 2 (bases 1 to 2188) AUTHORS Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M., Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S., Kim,Y.S. and Kim,N.S. TITLE Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags JOURNAL Biochem. Biophys. Res. Commun. 345 (3), 1022-1032 (2006) PUBMED 16712791 REFERENCE 3 (bases 1 to 2188) AUTHORS Hillier,L.W., Graves,T.A., Fulton,R.S., Fulton,L.A., Pepin,K.H., Minx,P., Wagner-McPherson,C., Layman,D., Wylie,K., Sekhon,M., Becker,M.C., Fewell,G.A., Delehaunty,K.D., Miner,T.L., Nash,W.E., Kremitzki,C., Oddy,L., Du,H., Sun,H., Bradshaw-Cordum,H., Ali,J., Carter,J., Cordes,M., Harris,A., Isak,A., van Brunt,A., Nguyen,C., Du,F., Courtney,L., Kalicki,J., Ozersky,P., Abbott,S., Armstrong,J., Belter,E.A., Caruso,L., Cedroni,M., Cotton,M., Davidson,T., Desai,A., Elliott,G., Erb,T., Fronick,C., Gaige,T., Haakenson,W., Haglund,K., Holmes,A., Harkins,R., Kim,K., Kruchowski,S.S., Strong,C.M., Grewal,N., Goyea,E., Hou,S., Levy,A., Martinka,S., Mead,K., McLellan,M.D., Meyer,R., Randall-Maher,J., Tomlinson,C., Dauphin-Kohlberg,S., Kozlowicz-Reilly,A., Shah,N., Swearengen-Shahid,S., Snider,J., Strong,J.T., Thompson,J., Yoakum,M., Leonard,S., Pearman,C., Trani,L., Radionenko,M., Waligorski,J.E., Wang,C., Rock,S.M., Tin-Wollam,A.M., Maupin,R., Latreille,P., Wendl,M.C., Yang,S.P., Pohl,C., Wallis,J.W., Spieth,J., Bieri,T.A., Berkowicz,N., Nelson,J.O., Osborne,J., Ding,L., Meyer,R., Sabo,A., Shotland,Y., Sinha,P., Wohldmann,P.E., Cook,L.L., Hickenbotham,M.T., Eldred,J., Williams,D., Jones,T.A., She,X., Ciccarelli,F.D., Izaurralde,E., Taylor,J., Schmutz,J., Myers,R.M., Cox,D.R., Huang,X., McPherson,J.D., Mardis,E.R., Clifton,S.W., Warren,W.C., Chinwalla,A.T., Eddy,S.R., Marra,M.A., Ovcharenko,I., Furey,T.S., Miller,W., Eichler,E.E., Bork,P., Suyama,M., Torrents,D., Waterston,R.H. and Wilson,R.K. TITLE Generation and annotation of the DNA sequences of human chromosomes 2 and 4 JOURNAL Nature 434 (7034), 724-731 (2005) PUBMED 15815621 REFERENCE 4 (bases 1 to 2188) AUTHORS Santi,E., Capone,S., Mennuni,C., Lahm,A., Tramontano,A., Luzzago,A. and Nicosia,A. TITLE Bacteriophage lambda display of complex cDNA libraries: a new approach to functional genomics JOURNAL J. Mol. Biol. 296 (2), 497-508 (2000) PUBMED 10669604 REFERENCE 5 (bases 1 to 2188) AUTHORS Briata,P., Di Blas,E., Gulisano,M., Mallamaci,A., Iannone,R., Boncinelli,E. and Corte,G. TITLE EMX1 homeoprotein is expressed in cell nuclei of the developing cerebral cortex and in the axons of the olfactory sensory neurons JOURNAL Mech. Dev. 57 (2), 169-180 (1996) PUBMED 8843394 REFERENCE 6 (bases 1 to 2188) AUTHORS Solaro,P., Greger,B. and Kemper,B. TITLE Detection and partial purification of a cruciform-resolving activity (X-solvase) from nuclear extracts of mouse B-cells JOURNAL Eur. J. Biochem. 230 (3), 926-933 (1995) PUBMED 7601155 REFERENCE 7 (bases 1 to 2188) 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 8 (bases 1 to 2188) AUTHORS Simeone,A., Gulisano,M., Acampora,D., Stornaiuolo,A., Rambaldi,M. and Boncinelli,E. TITLE Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex JOURNAL EMBO J. 11 (7), 2541-2550 (1992) PUBMED 1352754 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC012366.10 and BC045762.1. On May 4, 2006 this sequence version replaced gi:45598368. ##Evidence-Data-START## Transcript exon combination :: BC045762.1, BF515060.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-444 AC012366.10 27517-27960 445-1491 BC045762.1 445-1491 1492-2188 AC012366.10 44237-44933 FEATURES Location/Qualifiers source 1..2188 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13.2" gene 1..2188 /gene="EMX1" /note="empty spiracles homeobox 1" /db_xref="GeneID:2016" /db_xref="HGNC:3340" /db_xref="MIM:600034" exon 1..898 /gene="EMX1" /inference="alignment:Splign:1.39.8" misc_feature 4..6 /gene="EMX1" /note="upstream in-frame stop codon" CDS 379..1251 /gene="EMX1" /note="empty spiracles-like protein 1; empty spiracles homolog 1" /codon_start=1 /product="homeobox protein EMX1" /protein_id="NP_004088.2" /db_xref="GI:94536800" /db_xref="CCDS:CCDS1921.2" /db_xref="GeneID:2016" /db_xref="HGNC:3340" /db_xref="MIM:600034" /translation="
MCLAGCTPRKAAAPGRGALPRARLPRTAPAAATMFQPAAKRGFTIESLVAKDGGTGGGTGGGGAGSHLLAAAASEEPLRPTALNYPHPSAAEAAFVSGFPAAAAAGAGRSLYGGPELVFPEAMNHPALTVHPAHQLGASPLQPPHSFFGAQHRDPLHFYPWVLRNRFFGHRFQASDVPQDGLLLHGPFARKPKRIRTAFSPSQLLRLERAFEKNHYVVGAERKQLAGSLSLSETQVKVWFQNRRTKYKRQKLEEEGPESEQKKKGSHHINRWRIATKQANGEDIDVTSND
" misc_feature 955..1131 /gene="EMX1" /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(955..969,973..975,1024..1026,1042..1044,1081..1083, 1087..1092,1099..1104,1108..1116,1120..1125) /gene="EMX1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(961..963,970..972,1090..1092,1099..1104,1111..1113) /gene="EMX1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 538 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:376435032" variation 681 /gene="EMX1" /replace="c" /replace="t" /db_xref="dbSNP:372442704" variation 716 /gene="EMX1" /replace="g" /replace="t" /db_xref="dbSNP:369477108" variation 754 /gene="EMX1" /replace="a" /replace="c" /db_xref="dbSNP:62148125" variation 765 /gene="EMX1" /replace="c" /replace="t" /db_xref="dbSNP:202090552" variation 774 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:376419172" variation 777 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:201380329" variation 804 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:374549294" exon 899..1083 /gene="EMX1" /inference="alignment:Splign:1.39.8" STS 901..1082 /gene="EMX1" /standard_name="Emx1" /db_xref="UniSTS:226151" variation 922 /gene="EMX1" /replace="c" /replace="t" /db_xref="dbSNP:201213426" variation 990 /gene="EMX1" /replace="c" /replace="g" /db_xref="dbSNP:372502054" variation 1001 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:78718200" exon 1084..2188 /gene="EMX1" /inference="alignment:Splign:1.39.8" variation 1124 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:373889671" variation 1155 /gene="EMX1" /replace="c" /replace="t" /db_xref="dbSNP:368093885" variation 1199 /gene="EMX1" /replace="c" /replace="t" /db_xref="dbSNP:371563753" STS 1232..1804 /gene="EMX1" /standard_name="EMX1_8328" /db_xref="UniSTS:467668" variation 1243 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:376682612" variation 1282..1283 /gene="EMX1" /replace="" /replace="tgctgct" /db_xref="dbSNP:369392080" variation 1405 /gene="EMX1" /replace="c" /replace="g" /db_xref="dbSNP:115829034" variation 1482..1483 /gene="EMX1" /replace="c" /replace="g" /db_xref="dbSNP:3962109" variation 1491..1492 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:3980960" variation 1498 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:372544617" variation 1615 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:753554" variation 1648 /gene="EMX1" /replace="c" /replace="t" /db_xref="dbSNP:138979901" variation 1719 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:2077586" variation 1728 /gene="EMX1" /replace="a" /replace="g" /db_xref="dbSNP:183784760" variation 1803..1804 /gene="EMX1" /replace="" /replace="gggg" /db_xref="dbSNP:373549743" variation 1876 /gene="EMX1" /replace="a" /replace="t" /db_xref="dbSNP:189188763" variation 2067 /gene="EMX1" /replace="c" /replace="t" /db_xref="dbSNP:191539221" variation 2136 /gene="EMX1" /replace="a" /replace="c" /db_xref="dbSNP:141508812" variation 2165 /gene="EMX1" /replace="a" /replace="c" /db_xref="dbSNP:150916261" ORIGIN
aggtgagcggcggccaatgggcgagcgcggggcaggtgcccgctaactcgcgcctcgcagcgctgggcggccggggctgggcagggcagtgcggggacaccgggggctggggtcggtcccagcgggactccgaaaggagggagacgagctcaaccctcgggccttactggcagctcgcagcctagcacggagcccgcgcctgtgcgggcgcctggagctgcccgctccgccgcagcagccgccgcgcctggccgtacgctgtggccggaccccgcggtcgctcgctcacacacccctcgccgctccgcgcctggctcgcccgcgggggccgagcgcgagcgggcgggcgggggaggtgaggggtgcgggcgggtgtgcatgtgcctggctgggtgcacaccccgcaaggcggcggcgccaggacgcggagcgctccccagagcccggctgcctcgcacagctcccgcggctgcgaccatgttccagcccgcggccaagcgcggctttaccatagagtccttggtggccaaggacggcggcaccggcgggggcactggcggcgggggcgcgggctcccatctcctggcggcggccgcctccgaggaaccgctccggcccacggcgctcaactaccctcaccccagcgcggccgaggcggccttcgtgagtggcttccctgccgcggccgccgcgggcgcgggccgctcgctctacggtgggcccgagctcgtgttccccgaggccatgaaccaccccgcgctgaccgtgcatccggcgcaccagctgggcgcctccccgctgcagcccccgcactccttcttcggcgcccagcaccgggaccctctccatttctacccctgggtcctgcggaaccgcttcttcggccaccgcttccaggccagcgacgtgccccaggacgggctgcttctgcacggccccttcgcacgcaagcccaagcggatccgcacggccttctcgccctcgcagctgctgcggctggagcgcgccttcgagaagaaccactacgtggtgggcgccgagcggaagcagctggccggcagtctcagcctctccgagacgcaggtgaaggtgtggttccagaaccggaggacaaagtacaaacggcagaagctggaggaggaagggcctgagtccgagcagaagaagaagggctcccatcacatcaaccggtggcgcattgccacgaagcaggccaatggggaggacatcgatgtcacctccaatgactagggtgggcaaccacaaacccacgagggcagagtgctgcttgctgctggccaggcccctgcgtgggcccaagctggactctggccactccctggccaggctttggggaggcctggagtcatggccccacagggcttgaagcccggggccgccattgacagagggacaagcaatgggctggctgaggcctgggaccacttggccttctcctcggagagcctgcctgcctgggcgggcccgcccgccaccgcagcctcccagctgctctccgtgtctccaatctcccttttgttttgatgcatttctgttttaatttattttccaggcaccactgtagtttagtgatccccagtgtcccccttccctatgggaataataaaagtctctctcttaatgacacgggcatccagctccagccccagagcctggggtggtagattccggctctgagggccagtgggggctggtagagcaaacgcgttcagggcctgggagcctggggtggggtactggtggagggggtcaagggtaattcattaactcctctcttttgttgggggaccctggtctctacctccagctccacagcaggagaaacaggctagacatagggaagggccatcctgtatcttgagggaggacaggcccaggtctttcttaacgtattgagaggtgggaatcaggcccaggtagttcaatgggagagggagagtgcttccctctgcctagagactctggtggcttctccagttgaggagaaaccagaggaaaggggaggattggggtctgggggagggaacaccattcacaaaggctgacggttccagtccgaagtcgtgggcccaccaggatgctcacctgtccttggagaaccgctgggcaggttgagactgcagagacagggcttaaggctgagcctgcaaccagtccccagtgactc
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2016 -> Molecular function: GO:0003677 [DNA binding] evidence: NAS GeneID:2016 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:2016 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:2016 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:2016 -> Biological process: GO:0007275 [multicellular organismal development] evidence: NAS GeneID:2016 -> Biological process: GO:0009791 [post-embryonic development] evidence: IEA GeneID:2016 -> Biological process: GO:0021796 [cerebral cortex regionalization] evidence: IEA GeneID:2016 -> Biological process: GO:0030182 [neuron differentiation] evidence: IEA GeneID:2016 -> Biological process: GO:0042493 [response to drug] evidence: IEA GeneID:2016 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:2016 -> Cellular component: GO:0005634 [nucleus] evidence: NAS GeneID:2016 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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