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2024-03-29 13:56:17, 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:

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

by @meso_cacase at DBCLS
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