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    EN1 engrailed homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 2019, updated on 17-Mar-2024

    Summary

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    Official Symbol
    EN1provided by HGNC
    Official Full Name
    engrailed homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:3342
    See related
    Ensembl:ENSG00000163064 MIM:131290; AllianceGenome:HGNC:3342
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ENDOVESLB
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q14.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (118842171..118847648, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119275530..119281008, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (119599747..119605224, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927709 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:119401495-119402281 Neighboring gene Sharpr-MPRA regulatory region 6388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11897 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119590580-119591348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119599819-119600399 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:119602243-119602892 and GRCh37_chr2:119602893-119603542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119607811-119608363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119610971-119611506 Neighboring gene long intergenic non-protein coding RNA 1956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119615003-119615764 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119615765-119616526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119616527-119617286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11898 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:119671170-119672369 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:119711468-119712667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119746563-119747064 Neighboring gene uncharacterized LOC124906072 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:119749973-119751172 Neighboring gene macrophage receptor with collagenous structure Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:119807422-119808621 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:119843263-119843429 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:119868745-119869944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119870527-119871192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119891922-119892422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:119892423-119892923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119914695-119915505 Neighboring gene complement C1q like 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Converting fibroblastic fates leads to wound healing without scar. Jiang D, et al. Signal Transduct Target Ther, 2021 Sep 1. PMID 34471094, Free PMC Article
    2. Homeobox transcription factor engrailed homeobox 1 is a possible diagnostic marker for adenoid cystic carcinoma and polymorphous adenocarcinoma. Baba S, et al. Pathol Int, 2021 Feb. PMID 33333616
    3. EN1 Is a Transcriptional Dependency in Triple-Negative Breast Cancer Associated with Brain Metastasis. Peluffo G, et al. Cancer Res, 2019 Aug 15. PMID 31239270, Free PMC Article
    4. Homeobox transcriptional factor engrailed homeobox 1 is expressed specifically in normal and neoplastic sweat gland cells. Miura K, et al. Histopathology, 2018 Jun. PMID 29436004
    5. Engrailed 1 overexpression as a potential prognostic marker in quintuple-negative breast cancer. Kim YJ, et al. Cancer Biol Ther, 2018 Apr 3. PMID 29333926, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TGFbeta-induced EN1 promotes tumor budding of adenoid cystic carcinoma in patient-derived organoid model.
      Title: TGFβ-induced EN1 promotes tumor budding of adenoid cystic carcinoma in patient-derived organoid model.
    2. [En1 promotes cell proliferation and migration via Hedgehog signaling pathway in esophageal squamous cell carcinoma].
      Title: [En1 promotes cell proliferation and migration via Hedgehog signaling pathway in esophageal squamous cell carcinoma].
    3. The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding.
      Title: The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding.
    4. EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells via Hedgehog Signaling.
      Title: EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells via Hedgehog Signaling.
    5. Converting fibroblastic fates leads to wound healing without scar.
      Title: Converting fibroblastic fates leads to wound healing without scar.
    6. Repeated mutation of a developmental enhancer contributed to human thermoregulatory evolution.
      Title: Repeated mutation of a developmental enhancer contributed to human thermoregulatory evolution.
    7. Engrailed 1 coordinates cytoskeletal reorganization to induce myofibroblast differentiation.
      Title: Engrailed 1 coordinates cytoskeletal reorganization to induce myofibroblast differentiation.
    8. Homeobox transcription factor engrailed homeobox 1 is a possible diagnostic marker for adenoid cystic carcinoma and polymorphous adenocarcinoma.
      Title: Homeobox transcription factor engrailed homeobox 1 is a possible diagnostic marker for adenoid cystic carcinoma and polymorphous adenocarcinoma.
    9. Engrailed Homeobox 1 and Cytokeratin 19 Are Independent Diagnostic Markers of Eccrine Porocarcinoma and Distinguish It From Squamous Cell Carcinoma.
      Title: Engrailed Homeobox 1 and Cytokeratin 19 Are Independent Diagnostic Markers of Eccrine Porocarcinoma and Distinguish It From Squamous Cell Carcinoma.
    10. EN1 transcription factor regulates neurogenesis-related genes and is associated with brain metastasis in triple-negative breast cancer.
      Title: EN1 Is a Transcriptional Dependency in Triple-Negative Breast Cancer Associated with Brain Metastasis.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Endove syndrome, limb-brain type
    MedGen: C5543142 OMIM: 619218 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cerebellum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dopaminergic neuron differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in drinking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic brain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in midbrain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in midbrain-hindbrain boundary development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motor learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pigmentation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to cocaine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    homeobox protein engrailed-1
    Names
    engrailed homolog 1
    homeobox protein en-1
    hu-En-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007123.1 RefSeqGene

      Range
      5536..11013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001426.4 → NP_001417.3  homeobox protein engrailed-1

      See identical proteins and their annotated locations for NP_001417.3

      Status: REVIEWED

      Source sequence(s)
      AC012665
      Consensus CDS
      CCDS2123.1
      UniProtKB/Swiss-Prot
      Q05925, Q4ZG44
      Related
      ENSP00000295206.5, ENST00000295206.7
      Conserved Domains (2) summary
      pfam00046
      Location:306 → 359
      Homeobox; Homeobox domain
      pfam10525
      Location:361 → 390
      Engrail_1_C_sig; Engrailed homeobox C-terminal signature domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      118842171..118847648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      119275530..119281008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05925.3 GenPept UniProtKB/Swiss-Prot:Q05925

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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