LOCUS       NM_004097               2144 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA.
ACCESSION   NM_004097 XM_371499
VERSION     NM_004097.3
KEYWORDS    RefSeq; MANE Select.
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 2144)
  AUTHORS   Ang,C.E., Olmos,V.H., Vodehnal,K., Zhou,B., Lee,Q.Y., Sinha,R.,
            Narayanaswamy,A., Mall,M., Chesnov,K., Dominicus,C.S., Sudhof,T.
            and Wernig,M.
  TITLE     Generation of human excitatory forebrain neurons by cooperative
            binding of proneural NGN2 and homeobox factor EMX1
  JOURNAL   Proc Natl Acad Sci U S A 121 (11), e2308401121 (2024)
   PUBMED   38446849
  REMARK    GeneRIF: Generation of human excitatory forebrain neurons by
            cooperative binding of proneural NGN2 and homeobox factor EMX1.
REFERENCE   2  (bases 1 to 2144)
  AUTHORS   Han,Z., Mou,Z., Jing,Y., Jiang,R. and Sun,T.
  TITLE     EMX1 functions as a tumor inhibitor in spinal cord glioma through
            transcriptional suppression of WASF2 and inactivation of the
            Wnt/beta-catenin axis
  JOURNAL   Brain Behav 12 (8), e2684 (2022)
   PUBMED   35849030
  REMARK    GeneRIF: EMX1 functions as a tumor inhibitor in spinal cord glioma
            through transcriptional suppression of WASF2 and inactivation of
            the Wnt/beta-catenin axis.
REFERENCE   3  (bases 1 to 2144)
  AUTHORS   Jimenez-Garcia,M.P., Lucena-Cacace,A., Otero-Albiol,D. and
            Carnero,A.
  TITLE     Empty spiracles homeobox genes EMX1 and EMX2 regulate WNT pathway
            activation in sarcomagenesis
  JOURNAL   J Exp Clin Cancer Res 40 (1), 247 (2021)
   PUBMED   34364391
  REMARK    GeneRIF: Empty spiracles homeobox genes EMX1 and EMX2 regulate WNT
            pathway activation in sarcomagenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2144)
  AUTHORS   Jimenez-Garcia,M.P., Lucena-Cacace,A., Otero-Albiol,D. and
            Carnero,A.
  TITLE     Regulation of sarcomagenesis by the empty spiracles homeobox genes
            EMX1 and EMX2
  JOURNAL   Cell Death Dis 12 (6), 515 (2021)
   PUBMED   34016958
  REMARK    GeneRIF: Regulation of sarcomagenesis by the empty spiracles
            homeobox genes EMX1 and EMX2.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2144)
  AUTHORS   Kim,Y.J., Osborn,D.P., Lee,J.Y., Araki,M., Araki,K., Mohun,T.,
            Kansakoski,J., Brandstack,N., Kim,H.T., Miralles,F., Kim,C.H.,
            Brown,N.A., Kim,H.G., Martinez-Barbera,J.P., Ataliotis,P.,
            Raivio,T., Layman,L.C. and Kim,S.H.
  TITLE     WDR11-mediated Hedgehog signalling defects underlie a new
            ciliopathy related to Kallmann syndrome
  JOURNAL   EMBO Rep 19 (2), 269-289 (2018)
   PUBMED   29263200
REFERENCE   6  (bases 1 to 2144)
  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   7  (bases 1 to 2144)
  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   8  (bases 1 to 2144)
  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   9  (bases 1 to 2144)
  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   10 (bases 1 to 2144)
  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 17, 2019 this sequence version replaced NM_004097.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC045762.1, SRR1163658.552470.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258106.11/ ENSP00000258106.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-400               AC012366.10        27561-27960
            401-1447            BC045762.1         445-1491
            1448-2144           AC012366.10        44237-44933
FEATURES             Location/Qualifiers
     source          1..2144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..2144
                     /gene="EMX1"
                     /note="empty spiracles homeobox 1"
                     /db_xref="GeneID:2016"
                     /db_xref="HGNC:HGNC:3340"
                     /db_xref="MIM:600034"
     exon            1..854
                     /gene="EMX1"
                     /inference="alignment:Splign:2.1.0"
     CDS             335..1207
                     /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="CCDS:CCDS1921.2"
                     /db_xref="GeneID:2016"
                     /db_xref="HGNC:HGNC:3340"
                     /db_xref="MIM:600034"
                     /translation="MCLAGCTPRKAAAPGRGALPRARLPRTAPAAATMFQPAAKRGFT
                     IESLVAKDGGTGGGTGGGGAGSHLLAAAASEEPLRPTALNYPHPSAAEAAFVSGFPAA
                     AAAGAGRSLYGGPELVFPEAMNHPALTVHPAHQLGASPLQPPHSFFGAQHRDPLHFYP
                     WVLRNRFFGHRFQASDVPQDGLLLHGPFARKPKRIRTAFSPSQLLRLERAFEKNHYVV
                     GAERKQLAGSLSLSETQVKVWFQNRRTKYKRQKLEEEGPESEQKKKGSHHINRWRIAT
                     KQANGEDIDVTSND"
     exon            855..1039
                     /gene="EMX1"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..2144
                     /gene="EMX1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1579..1584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMX1"
                     /note="hexamer: AATAAA"
     polyA_site      1601
                     /gene="EMX1"
                     /note="major polyA site"
ORIGIN      
        1 aactcgcgcc tcgcagcgct gggcggccgg ggctgggcag ggcagtgcgg ggacaccggg
       61 ggctggggtc ggtcccagcg ggactccgaa aggagggaga cgagctcaac cctcgggcct
      121 tactggcagc tcgcagccta gcacggagcc cgcgcctgtg cgggcgcctg gagctgcccg
      181 ctccgccgca gcagccgccg cgcctggccg tacgctgtgg ccggaccccg cggtcgctcg
      241 ctcacacacc cctcgccgct ccgcgcctgg ctcgcccgcg ggggccgagc gcgagcgggc
      301 gggcggggga ggtgaggggt gcgggcgggt gtgcatgtgc ctggctgggt gcacaccccg
      361 caaggcggcg gcgccaggac gcggagcgct ccccagagcc cggctgcctc gcacagctcc
      421 cgcggctgcg accatgttcc agcccgcggc caagcgcggc tttaccatag agtccttggt
      481 ggccaaggac ggcggcaccg gcgggggcac tggcggcggg ggcgcgggct cccatctcct
      541 ggcggcggcc gcctccgagg aaccgctccg gcccacggcg ctcaactacc ctcaccccag
      601 cgcggccgag gcggccttcg tgagtggctt ccctgccgcg gccgccgcgg gcgcgggccg
      661 ctcgctctac ggtgggcccg agctcgtgtt ccccgaggcc atgaaccacc ccgcgctgac
      721 cgtgcatccg gcgcaccagc tgggcgcctc cccgctgcag cccccgcact ccttcttcgg
      781 cgcccagcac cgggaccctc tccatttcta cccctgggtc ctgcggaacc gcttcttcgg
      841 ccaccgcttc caggccagcg acgtgcccca ggacgggctg cttctgcacg gccccttcgc
      901 acgcaagccc aagcggatcc gcacggcctt ctcgccctcg cagctgctgc ggctggagcg
      961 cgccttcgag aagaaccact acgtggtggg cgccgagcgg aagcagctgg ccggcagtct
     1021 cagcctctcc gagacgcagg tgaaggtgtg gttccagaac cggaggacaa agtacaaacg
     1081 gcagaagctg gaggaggaag ggcctgagtc cgagcagaag aagaagggct cccatcacat
     1141 caaccggtgg cgcattgcca cgaagcaggc caatggggag gacatcgatg tcacctccaa
     1201 tgactagggt gggcaaccac aaacccacga gggcagagtg ctgcttgctg ctggccaggc
     1261 ccctgcgtgg gcccaagctg gactctggcc actccctggc caggctttgg ggaggcctgg
     1321 agtcatggcc ccacagggct tgaagcccgg ggccgccatt gacagaggga caagcaatgg
     1381 gctggctgag gcctgggacc acttggcctt ctcctcggag agcctgcctg cctgggcggg
     1441 cccgcccgcc accgcagcct cccagctgct ctccgtgtct ccaatctccc ttttgttttg
     1501 atgcatttct gttttaattt attttccagg caccactgta gtttagtgat ccccagtgtc
     1561 ccccttccct atgggaataa taaaagtctc tctcttaatg acacgggcat ccagctccag
     1621 ccccagagcc tggggtggta gattccggct ctgagggcca gtgggggctg gtagagcaaa
     1681 cgcgttcagg gcctgggagc ctggggtggg gtactggtgg agggggtcaa gggtaattca
     1741 ttaactcctc tcttttgttg ggggaccctg gtctctacct ccagctccac agcaggagaa
     1801 acaggctaga catagggaag ggccatcctg tatcttgagg gaggacaggc ccaggtcttt
     1861 cttaacgtat tgagaggtgg gaatcaggcc caggtagttc aatgggagag ggagagtgct
     1921 tccctctgcc tagagactct ggtggcttct ccagttgagg agaaaccaga ggaaagggga
     1981 ggattggggt ctgggggagg gaacaccatt cacaaaggct gacggttcca gtccgaagtc
     2041 gtgggcccac caggatgctc acctgtcctt ggagaaccgc tgggcaggtt gagactgcag
     2101 agacagggct taaggctgag cctgcaacca gtccccagtg actc
//
