LOCUS       NM_001426               2427 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens engrailed homeobox 1 (EN1), mRNA.
ACCESSION   NM_001426
VERSION     NM_001426.4
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 2427)
  AUTHORS   Hui,Z., Wang,B., Liu,Z., Wei,J., Gan,J., Landstrom,M., Mu,Y. and
            Zang,G.
  TITLE     TGFbeta-induced EN1 promotes tumor budding of adenoid cystic
            carcinoma in patient-derived organoid model
  JOURNAL   Int J Cancer 154 (10), 1814-1827 (2024)
   PUBMED   38282121
  REMARK    GeneRIF: TGFbeta-induced EN1 promotes tumor budding of adenoid
            cystic carcinoma in patient-derived organoid model.
REFERENCE   2  (bases 1 to 2427)
  AUTHORS   Zhao,N., Gong,T.Y., Wei,Z.C., Cong,J., Liu,Z.H. and Chen,H.Y.
  TITLE     [En1 promotes cell proliferation and migration via Hedgehog
            signaling pathway in esophageal squamous cell carcinoma]
  JOURNAL   Zhonghua Zhong Liu Za Zhi 46 (2), 99-107 (2024)
   PUBMED   38418183
  REMARK    GeneRIF: [En1 promotes cell proliferation and migration via
            Hedgehog signaling pathway in esophageal squamous cell carcinoma].
REFERENCE   3  (bases 1 to 2427)
  AUTHORS   Wang,Y., Huang,X., Zhang,Q., Cheng,C., Qin,Z., Lu,L. and Huang,Q.
  TITLE     The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates
            EN1 expression by modulating DNA methylation and E2F6 binding
  JOURNAL   J Mol Med (Berl) 102 (2), 273-284 (2024)
   PUBMED   38153509
  REMARK    GeneRIF: The osteoporosis susceptibility SNP rs188303909 at 2q14.2
            regulates EN1 expression by modulating DNA methylation and E2F6
            binding.
REFERENCE   4  (bases 1 to 2427)
  AUTHORS   Xu,J., Roe,J.S., Lee,E., Tonelli,C., Ji,K.Y., Younis,O.W.,
            Somervile,T.D.D., Yao,M., Milazzo,J.P., Tiriac,H., Kolarzyk,A.M.,
            Lee,E., Grem,J.L., Lazenby,A.J., Grunkemeyer,J.A.,
            Hollingsworth,M.A., Grandgenett,P.M., Borowsky,A.D., Park,Y.,
            Vakoc,C.R., Tuveson,D.A. and Hwang,C.I.
  TITLE     Engrailed-1 Promotes Pancreatic Cancer Metastasis
  JOURNAL   Adv Sci (Weinh) 11 (6), e2308537 (2024)
   PUBMED   38110836
  REMARK    GeneRIF: Engrailed-1 Promotes Pancreatic Cancer Metastasis.
REFERENCE   5  (bases 1 to 2427)
  AUTHORS   Chang,J., Guo,C., Li,J., Liang,Z., Wang,Y., Yu,A., Liu,R., Guo,Y.,
            Chen,J. and Huang,S.
  TITLE     EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells
            via Hedgehog Signaling
  JOURNAL   Int J Mol Sci 23 (3), 1123 (2022)
   PUBMED   35163043
  REMARK    GeneRIF: EN1 Regulates Cell Growth and Proliferation in Human
            Glioma Cells via Hedgehog Signaling.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2427)
  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 2427)
  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 2427)
  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 2427)
  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 2427)
  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 Jul 17, 2019 this sequence version replaced NM_001426.3.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR12514508.387298.1,
                                           SRR14038197.74164.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295206.7/ ENSP00000295206.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1343              AC012665.8         38108-39450         c
            1344-2427           AC012665.8         33973-35056         c
FEATURES             Location/Qualifiers
     source          1..2427
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.2"
     gene            1..2427
                     /gene="EN1"
                     /gene_synonym="ENDOVESLB"
                     /note="engrailed homeobox 1"
                     /db_xref="GeneID:2019"
                     /db_xref="HGNC:HGNC:3342"
                     /db_xref="MIM:131290"
     exon            1..1343
                     /gene="EN1"
                     /gene_synonym="ENDOVESLB"
                     /inference="alignment:Splign:2.1.0"
     CDS             482..1660
                     /gene="EN1"
                     /gene_synonym="ENDOVESLB"
                     /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="CCDS:CCDS2123.1"
                     /db_xref="GeneID:2019"
                     /db_xref="HGNC:HGNC:3342"
                     /db_xref="MIM:131290"
                     /translation="MEEQQPEPKSQRDSALGAAAAATPGGLSLSLSPGASGSSGSGSD
                     GDSVPVSPQPAPPSPPAAPCLPPLAHHPHLPPHPPPPPPQHLAAPAHQPQPAAQLHRT
                     TNFFIDNILRPDFGCKKEQPPPQLLVAAAARGGAGGGGRVERDRGQTAAGRDPVHPLG
                     TRAPGAASLLCAPDANCGPPDGSQPAAAGAGASKAGNPAAAAAAAAAAVAAAAAAAAA
                     KPSDTGGGGSGGGAGSPGAQGTKYPEHGNPAILLMGSANGGPVVKTDSQQPLVWPAWV
                     YCTRYSDRPSSGPRTRKLKKKKNEKEDKRPRTAFTAEQLQRLKAEFQANRYITEQRRQ
                     TLAQELSLNESQIKIWFQNKRAKIKKATGIKNGLALHLMAQGLYNHSTTTVQDKDESE
                     "
     exon            1344..2427
                     /gene="EN1"
                     /gene_synonym="ENDOVESLB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2403..2408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EN1"
                     /gene_synonym="ENDOVESLB"
                     /note="hexamer: AATAAA"
     polyA_site      2427
                     /gene="EN1"
                     /gene_synonym="ENDOVESLB"
                     /note="major polyA site"
ORIGIN      
        1 gggcacagct gagcgtgaca ctcggggaag tcaaacccct cactactgcc taggaagatg
       61 gctagacttt aaatactatt tttttccctt taagaaaaaa attattggag ctttttttct
      121 tgctttcttt ttccttttct ttttcttttt ttccttcatt tttttggccg tggcttactc
      181 cccatttaaa tcaaatcatt gaatctggtt gcagaaagaa aaaagaaata gccaagtgtc
      241 tccatatctg gatgtctaca aattagagag ggagagacag cgagatctat ctgctagata
      301 agaacgagcg atccaggcca gacgcctgag cttttttcct gcacccgccc cgtgccttcg
      361 ctgaggcttc gcctgcctcc ttcctccgcg cacccccacg ggccgctggc aaagtggggt
      421 ggggagcgag gcggtggggg cgggggccgg cgcggcggcc ggggcggcgg ggcggccgag
      481 catggaagaa cagcagccgg aacctaaaag tcagcgcgac tcggccctcg gcgcggcggc
      541 ggcggcgact ccgggcggcc tcagcctgag cctcagtccg ggcgccagcg gcagcagcgg
      601 cagcggcagc gatggagaca gcgtgccggt gtccccgcag cctgcgcccc cctcgccgcc
      661 cgcggcgcct tgcctgccgc ccctggccca ccacccgcac ctccccccac accccccgcc
      721 cccgccgcct cagcatctcg cggcgcctgc tcaccagccg cagccagcgg cccagctgca
      781 ccgcaccacc aactttttca tcgacaacat cctgaggccg gacttcggct gcaaaaagga
      841 gcagccgcca ccgcagcttc tggtggctgc ggcggccaga ggaggcgcag gaggaggagg
      901 ccgggtcgag cgtgacagag gccagactgc cgcaggtaga gaccctgtcc acccgttggg
      961 cacccgggcg ccaggcgctg cctcgctcct gtgcgccccg gacgcgaact gtggcccacc
     1021 cgacggctcc cagccagccg ccgccggcgc gggcgcgtct aaagctggga acccggctgc
     1081 ggcggcggcg gcggccgcgg cggcagtggc ggcggcggcg gcggccgcag cagccaagcc
     1141 ctcggacacc ggtggcggcg gcagtggagg cggcgcgggg agccccggag cgcagggcac
     1201 caaatacccg gagcacggca acccggctat cctacttatg ggctcagcca acggcgggcc
     1261 cgtggtcaaa actgactcgc agcagcctct cgtatggccc gcctgggtgt actgcacacg
     1321 ttattcggat cgtccatcct ccggtccgcg caccaggaag ctgaagaaga agaagaacga
     1381 gaaggaggac aagcggccgc ggaccgcgtt cacggccgag cagctgcaga gactcaaggc
     1441 ggagttccag gcaaaccgct acatcacgga gcagcggcgg cagaccctgg cccaggaact
     1501 cagcctcaac gagtcccaga tcaagatctg gttccagaac aagcgcgcca agatcaagaa
     1561 agccacaggc atcaagaacg gcctggcgct gcacctcatg gcccagggac tgtacaacca
     1621 ctccaccacc acggtccagg acaaagacga gagcgagtag ccgccacagg ccggggccgc
     1681 gcccgcgccc cctcccggca ccgccgccgt cgtctcccgg cccctcgctg ggggagaaag
     1741 catctgctcc aaggagggag ggagcgcagg gaaaagagcg agagagacag aaagagagcc
     1801 tcagaatgga caatgacgtt gaaacgcagc atttttgaaa agggagaaag actcggacag
     1861 gtgctatcga aaaataagat ccattctcta ttcccagtat aagggacgaa actgcgaact
     1921 ccttaaagct ctatctagcc aaaccgctta cgaccttgta tatatttaat ttcaggtaag
     1981 gaaaacacat acgtgtagcg atctctattt gctggacatt tttattaatc tcctttatta
     2041 ttattgttat aattattata attattataa ttattttatc ccctccccca ccgcctcgct
     2101 gcccccgccc agtttcgttt tcgttgcctt tttcatttga atgtcattgc ttctccggtg
     2161 cctcccgacc cgcatcgccg gccctggttt ctctgggact tttctttgtg tgcgagagtg
     2221 tgtttccttt cgtgtctgcc cacctcttct cccccacctc ccgggtccct tctgtcggtc
     2281 tgtctgttct gccccccttt cgttttccgg agacttgttg agaaatacga ccccacagac
     2341 tgcgagactg aaccgccgct acaagccaaa gattttatta tgttcagaaa cctgtagtct
     2401 gaaataaagt gtacactgtg ctcacga
//
