GGRNA | NM_001426.3

LOCUS       NM_001426               2962 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens engrailed homeobox 1 (EN1), mRNA.
ACCESSION   NM_001426
VERSION     NM_001426.3  GI:126090908
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 2962)
  AUTHORS   Bell,D., Bell,A., Roberts,D., Weber,R.S. and El-Naggar,A.K.
  TITLE     Developmental transcription factor EN1--a novel biomarker in human
            salivary gland adenoid cystic carcinoma
  JOURNAL   Cancer 118 (5), 1288-1292 (2012)
   PUBMED   21800291
  REMARK    GeneRIF: EN1 is a biologic predictor of poor prognosis in patients
            with salivary adenoid cystic carcinoma.
REFERENCE   2  (bases 1 to 2962)
  AUTHORS   Wang,Q., Cao,D.H., Lin,C.K., Wang,Z.D., Cui,W.T. and Jin,C.L.
  TITLE     [The regulation of UTROPHIN expression by EN1]
  JOURNAL   Yi Chuan 33 (4), 347-352 (2011)
   PUBMED   21482524
  REMARK    GeneRIF: EN1 might be a negative regulatory factor for UTROPHIN.
REFERENCE   3  (bases 1 to 2962)
  AUTHORS   Cavanillas,M.L., Fernandez,O., Comabella,M., Alcina,A., Fedetz,M.,
            Izquierdo,G., Lucas,M., Cenit,M.C., Arroyo,R., Vandenbroeck,K.,
            Alloza,I., Garcia-Barcina,M., Antiguedad,A., Leyva,L., Gomez,C.L.,
            Olascoaga,J., Otaegui,D., Blanco,Y., Saiz,A., Montalban,X.,
            Matesanz,F. and Urcelay,E.
  TITLE     Replication of top markers of a genome-wide association study in
            multiple sclerosis in Spain
  JOURNAL   Genes Immun. 12 (2), 110-115 (2011)
   PUBMED   20944657
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2962)
  AUTHORS   Wang,Q., Cao,D.H., Jin,C.L., Lin,C.K., Ma,H.W. and Wu,Y.Y.
  TITLE     A method of utrophin up-regulation through RNAi-mediated knockdown
            of the transcription factor EN1
  JOURNAL   J. Int. Med. Res. 39 (1), 161-171 (2011)
   PUBMED   21672318
  REMARK    GeneRIF: Homeobox protein engrailed-1 protein regulates
            transcription of the utrophin gene.
REFERENCE   5  (bases 1 to 2962)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 2962)
  AUTHORS   Loomis,C.A., Harris,E., Michaud,J., Wurst,W., Hanks,M. and
            Joyner,A.L.
  TITLE     The mouse Engrailed-1 gene and ventral limb patterning
  JOURNAL   Nature 382 (6589), 360-363 (1996)
   PUBMED   8684466
REFERENCE   7  (bases 1 to 2962)
  AUTHORS   Kozmik,Z., Sure,U., Ruedi,D., Busslinger,M. and Aguzzi,A.
  TITLE     Deregulated expression of PAX5 in medulloblastoma
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 92 (12), 5709-5713 (1995)
   PUBMED   7777574
REFERENCE   8  (bases 1 to 2962)
  AUTHORS   Kohler,A., Logan,C., Joyner,A.L. and Muenke,M.
  TITLE     Regional assignment of the human homeobox-containing gene EN1 to
            chromosome 2q13-q21
  JOURNAL   Genomics 15 (1), 233-235 (1993)
   PUBMED   8094370
REFERENCE   9  (bases 1 to 2962)
  AUTHORS   Logan,C., Hanks,M.C., Noble-Topham,S., Nallainathan,D.,
            Provart,N.J. and Joyner,A.L.
  TITLE     Cloning and sequence comparison of the mouse, human, and chicken
            engrailed genes reveal potential functional domains and regulatory
            regions
  JOURNAL   Dev. Genet. 13 (5), 345-358 (1992)
   PUBMED   1363401
REFERENCE   10 (bases 1 to 2962)
  AUTHORS   Logan,C., Willard,H.F., Rommens,J.M. and Joyner,A.L.
  TITLE     Chromosomal localization of the human homeo box-containing genes,
            EN1 and EN2
  JOURNAL   Genomics 4 (2), 206-209 (1989)
   PUBMED   2567700
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012665.8.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 23, 2007 this sequence version replaced gi:7710118.
            
            Summary: Homeobox-containing genes are thought to have a role in
            controlling development. In Drosophila, the 'engrailed' (en) gene
            plays an important role during development in segmentation, where
            it is required for the formation of posterior compartments.
            Different mutations in the mouse homologs, En1 and En2, produced
            different developmental defects that frequently are lethal. The
            human engrailed homologs 1 and 2 encode homeodomain-containing
            proteins and have been implicated in the control of pattern
            formation during development of the central nervous system.
            [provided by RefSeq, Jul 2008].
            
            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##
            RNAseq introns :: single sample supports all introns ERS025081,
                              ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1878              AC012665.8         38108-39985         c
            1879-2962           AC012665.8         33973-35056         c
FEATURES             Location/Qualifiers
     source          1..2962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.2"
     gene            1..2962
                     /gene="EN1"
                     /note="engrailed homeobox 1"
                     /db_xref="GeneID:2019"
                     /db_xref="HGNC:3342"
                     /db_xref="MIM:131290"
     exon            1..1878
                     /gene="EN1"
                     /inference="alignment:Splign:1.39.8"
     variation       427
                     /gene="EN1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:70949945"
     variation       435
                     /gene="EN1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3754856"
     variation       443
                     /gene="EN1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3754857"
     misc_feature    897..899
                     /gene="EN1"
                     /note="upstream in-frame stop codon"
     STS             933..2302
                     /gene="EN1"
                     /db_xref="UniSTS:480875"
     STS             946..2277
                     /gene="EN1"
                     /db_xref="UniSTS:483132"
     CDS             1017..2195
                     /gene="EN1"
                     /note="engrailed homolog 1; hu-En-1; homeobox protein
                     en-1"
                     /codon_start=1
                     /product="homeobox protein engrailed-1"
                     /protein_id="NP_001417.3"
                     /db_xref="GI:126090909"
                     /db_xref="CCDS:CCDS2123.1"
                     /db_xref="GeneID:2019"
                     /db_xref="HGNC:3342"
                     /db_xref="MIM:131290"
                     /translation="

MEEQQPEPKSQRDSALGAAAAATPGGLSLSLSPGASGSSGSGSDGDSVPVSPQPAPPSPPAAPCLPPLAHHPHLPPHPPPPPPQHLAAPAHQPQPAAQLHRTTNFFIDNILRPDFGCKKEQPPPQLLVAAAARGGAGGGGRVERDRGQTAAGRDPVHPLGTRAPGAASLLCAPDANCGPPDGSQPAAAGAGASKAGNPAAAAAAAAAAVAAAAAAAAAKPSDTGGGGSGGGAGSPGAQGTKYPEHGNPAILLMGSANGGPVVKTDSQQPLVWPAWVYCTRYSDRPSSGPRTRKLKKKKNEKEDKRPRTAFTAEQLQRLKAEFQANRYITEQRRQTLAQELSLNESQIKIWFQNKRAKIKKATGIKNGLALHLMAQGLYNHSTTTVQDKDESE

"
     misc_feature    1923..2102
                     /gene="EN1"
                     /note="Region: homeobox domain"
     misc_feature    1929..2096
                     /gene="EN1"
                     /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(1929..1940,1944..1946,1995..1997,2013..2015,
                     2052..2054,2058..2063,2070..2075,2079..2087,2091..2096)
                     /gene="EN1"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(1932..1934,1941..1943,2061..2063,2070..2075,
                     2082..2084)
                     /gene="EN1"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     misc_feature    2097..2192
                     /gene="EN1"
                     /note="Engrailed homeobox C-terminal signature domain;
                     Region: Engrail_1_C_sig; pfam10525"
                     /db_xref="CDD:119045"
     variation       1505
                     /gene="EN1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:79126103"
     variation       1637
                     /gene="EN1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:77704181"
     variation       1786
                     /gene="EN1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:78210121"
     exon            1879..2962
                     /gene="EN1"
                     /inference="alignment:Splign:1.39.8"
     variation       2045
                     /gene="EN1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76483309"
     STS             2313..2483
                     /gene="EN1"
                     /standard_name="D9S2047"
                     /db_xref="UniSTS:49321"
     STS             2324..2935
                     /gene="EN1"
                     /standard_name="EN1_604"
                     /db_xref="UniSTS:277204"
     STS             2728..2878
                     /gene="EN1"
                     /standard_name="RH104030"
                     /db_xref="UniSTS:98355"
     polyA_signal    2938..2943
                     /gene="EN1"
     polyA_site      2962
                     /gene="EN1"
ORIGIN

agctcacagacccataatcctgcatttctctaacaagttgtttatggagttgcttctccatttgcctacatcccaaaattcacccctcccgggtttcttctgccccctcctgagtcccggcctgaaggagggggagggacgcgggtgcgggcgcgggtgggggagggcggacccgacgcacagggccagcgccgaggcgccccctctccgccagcggttgacgcccccggattatttatccgcaaagtcccgcgcgcgcccattgggccgaggcccgagtgtcagcgcgagtcccggctcgccattggctccgcacacgtgcggccctgactcacgtgcttccggtttgaaggcaaaaagtgtgcctgggtgattttttttttaagcgagagagtttgtgcaaagatccgagctgtcagagatttgaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaacagcccggcgctggcggagacgcgctctccctgcaaaaaaagcaaaggcgattaaaggcgctgccagcctcacgctctgggcacagctgagcgtgacactcggggaagtcaaacccctcactactgcctaggaagatggctagactttaaatactatttttttccctttaagaaaaaaattattggagctttttttcttgctttctttttccttttctttttctttttttccttcatttttttggccgtggcttactccccatttaaatcaaatcattgaatctggttgcagaaagaaaaaagaaatagccaagtgtctccatatctggatgtctacaaattagagagggagagacagcgagatctatctgctagataagaacgagcgatccaggccagacgcctgagcttttttcctgcacccgccccgtgccttcgctgaggcttcgcctgcctccttcctccgcgcacccccacgggccgctggcaaagtggggtggggagcgaggcggtgggggcgggggccggcgcggcggccggggcggcggggcggccgagcatggaagaacagcagccggaacctaaaagtcagcgcgactcggccctcggcgcggcggcggcggcgactccgggcggcctcagcctgagcctcagtccgggcgccagcggcagcagcggcagcggcagcgatggagacagcgtgccggtgtccccgcagcctgcgcccccctcgccgcccgcggcgccttgcctgccgcccctggcccaccacccgcacctccccccacaccccccgcccccgccgcctcagcatctcgcggcgcctgctcaccagccgcagccagcggcccagctgcaccgcaccaccaactttttcatcgacaacatcctgaggccggacttcggctgcaaaaaggagcagccgccaccgcagcttctggtggctgcggcggccagaggaggcgcaggaggaggaggccgggtcgagcgtgacagaggccagactgccgcaggtagagaccctgtccacccgttgggcacccgggcgccaggcgctgcctcgctcctgtgcgccccggacgcgaactgtggcccacccgacggctcccagccagccgccgccggcgcgggcgcgtctaaagctgggaacccggctgcggcggcggcggcggccgcggcggcagtggcggcggcggcggcggccgcagcagccaagccctcggacaccggtggcggcggcagtggaggcggcgcggggagccccggagcgcagggcaccaaatacccggagcacggcaacccggctatcctacttatgggctcagccaacggcgggcccgtggtcaaaactgactcgcagcagcctctcgtatggcccgcctgggtgtactgcacacgttattcggatcgtccatcctccggtccgcgcaccaggaagctgaagaagaagaagaacgagaaggaggacaagcggccgcggaccgcgttcacggccgagcagctgcagagactcaaggcggagttccaggcaaaccgctacatcacggagcagcggcggcagaccctggcccaggaactcagcctcaacgagtcccagatcaagatctggttccagaacaagcgcgccaagatcaagaaagccacaggcatcaagaacggcctggcgctgcacctcatggcccagggactgtacaaccactccaccaccacggtccaggacaaagacgagagcgagtagccgccacaggccggggccgcgcccgcgccccctcccggcaccgccgccgtcgtctcccggcccctcgctgggggagaaagcatctgctccaaggagggagggagcgcagggaaaagagcgagagagacagaaagagagcctcagaatggacaatgacgttgaaacgcagcatttttgaaaagggagaaagactcggacaggtgctatcgaaaaataagatccattctctattcccagtataagggacgaaactgcgaactccttaaagctctatctagccaaaccgcttacgaccttgtatatatttaatttcaggtaaggaaaacacatacgtgtagcgatctctatttgctggacatttttattaatctcctttattattattgttataattattataattattataattattttatcccctcccccaccgcctcgctgcccccgcccagtttcgttttcgttgcctttttcatttgaatgtcattgcttctccggtgcctcccgacccgcatcgccggccctggtttctctgggacttttctttgtgtgcgagagtgtgtttcctttcgtgtctgcccacctcttctcccccacctcccgggtcccttctgtcggtctgtctgttctgcccccctttcgttttccggagacttgttgagaaatacgaccccacagactgcgagactgaaccgccgctacaagccaaagattttattatgttcagaaacctgtagtctgaaataaagtgtacactgtgctcacga

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