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 hum... See more...

Aliases for EN1 Gene

Aliases for EN1 Gene

  • Engrailed Homeobox 1 2 3 5
  • Homeobox Protein Engrailed-1 3 4
  • Homeobox Protein En-1 3 4
  • Hu-En-1 3 4
  • Engrailed Homolog 1 3

External Ids for EN1 Gene

Previous GeneCards Identifiers for EN1 Gene

  • GC02M116805
  • GC02M117520
  • GC02M119506
  • GC02M119694
  • GC02M119315
  • GC02M111924

Summaries for EN1 Gene

Entrez Gene Summary for EN1 Gene

  • 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]

GeneCards Summary for EN1 Gene

EN1 (Engrailed Homeobox 1) is a Protein Coding gene. Diseases associated with EN1 include Sudden Infant Death Syndrome and Adenoid Cystic Carcinoma. Among its related pathways are Dopaminergic Neurogenesis and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is EN2.

Gene Wiki entry for EN1 Gene

Additional gene information for EN1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EN1 Gene

Genomics for EN1 Gene

GeneHancer (GH) Regulatory Elements for EN1 Gene

Promoters and enhancers for EN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J118222 Enhancer 0.6 ENCODE 11.9 +626.0 625983 0.2 CTCF REST RAD21 TRIM22 SMC3 BMI1 ZNF205 MIER3 ZNF511 ZNF654 lnc-CCDC93-3 THORLNC EN1 LOC105373578 RF01045-072
GH02J118223 Enhancer 0.6 ENCODE 11.9 +623.4 623435 3 POLR2A EZH2 PHF8 BMI1 CBX2 SMARCA4 RNF2 SPI1 TAF1 SUZ12 LOC105373578 lnc-CCDC93-3 THORLNC lnc-INSIG2-3 EN1
GH02J118842 Promoter/Enhancer 1.2 Ensembl ENCODE 0.7 +2.8 2799 8.4 USF1 ZBTB26 HES1 MYC EZH2 HDAC2 RBM25 NFIC SP2 GABPA lnc-C1QL2-3 EN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EN1

Top Transcription factor binding sites by QIAGEN in the EN1 gene promoter:
  • CUTL1
  • GR
  • GR-alpha
  • NF-kappaB1
  • Pax-4a
  • Roaz
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for EN1 Gene

Genomic Locations for EN1 Gene
chr2:118,842,171-118,848,183
(GRCh38/hg38)
Size:
6,013 bases
Orientation:
Minus strand
chr2:119,599,747-119,605,759
(GRCh37/hg19)
Size:
6,013 bases
Orientation:
Minus strand

Genomic View for EN1 Gene

Genes around EN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EN1 Gene

Proteins for EN1 Gene

  • Protein details for EN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05925-HME1_HUMAN
    Recommended name:
    Homeobox protein engrailed-1
    Protein Accession:
    Q05925
    Secondary Accessions:
    • Q4ZG44

    Protein attributes for EN1 Gene

    Size:
    392 amino acids
    Molecular mass:
    40115 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EN1 Gene

Post-translational modifications for EN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EN1 Gene

Domains & Families for EN1 Gene

Gene Families for EN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for EN1 Gene

Blocks:
  • Lambda and other repressor helix-turn-helix signature
  • 'Homeobox' engrailed-type protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EN1 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein engrailed-1 (HME1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q05925

UniProtKB/Swiss-Prot:

HME1_HUMAN :
  • Belongs to the engrailed homeobox family.
Family:
  • Belongs to the engrailed homeobox family.
genes like me logo Genes that share domains with EN1: view

Function for EN1 Gene

Molecular function for EN1 Gene

GENATLAS Biochemistry:
Drosophila segment-polarity gene engrailed homolog 1,homeo domain encoding gene,expressed in embryonic ventral limb ectoderm,regulator of the ventral limb patterning,inhibits WNT7A expression in ventral limb bud

Phenotypes From GWAS Catalog for EN1 Gene

Gene Ontology (GO) - Molecular Function for EN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 21672318
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 21672318
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IBA 21873635
genes like me logo Genes that share ontologies with EN1: view
genes like me logo Genes that share phenotypes with EN1: view

Animal Models for EN1 Gene

MGI Knock Outs for EN1:
  • En1 En1<tm1Alj>
  • En1 En1<tm1Gld>
  • En1 En1<tm3(En2)Alj>
  • En1 En1<tm3.1(En2)Alj>
  • En1 En1<tm2(cre)Wrst>
  • En1 En1<tm2Alj>
  • En1 En1<tm1.1(Wnt1)Wrst>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EN1 Gene

Localization for EN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EN1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA 24399192
GO:0016586 RSC-type complex IBA 21873635
genes like me logo Genes that share ontologies with EN1: view

Pathways & Interactions for EN1 Gene

genes like me logo Genes that share pathways with EN1: view

Pathways by source for EN1 Gene

Gene Ontology (GO) - Biological Process for EN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 21672318
GO:0001501 skeletal system development TAS 8684466
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with EN1: view

No data available for SIGNOR curated interactions for EN1 Gene

Drugs & Compounds for EN1 Gene

No Compound Related Data Available

Transcripts for EN1 Gene

mRNA/cDNA for EN1 Gene

1 REFSEQ mRNAs :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EN1

Alternative Splicing Database (ASD) splice patterns (SP) for EN1 Gene

No ASD Table

Relevant External Links for EN1 Gene

GeneLoc Exon Structure for
EN1

Expression for EN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EN1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x10.8), Brain - Substantia nigra (x8.3), Muscle - Skeletal (x8.0), and Skin - Not Sun Exposed (Suprapubic) (x7.0).

Protein differential expression in normal tissues from HIPED for EN1 Gene

This gene is overexpressed in Adipocyte (55.3) and Bone (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EN1 Gene



Protein tissue co-expression partners for EN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EN1

SOURCE GeneReport for Unigene cluster for EN1 Gene:

Hs.271977

Evidence on tissue expression from TISSUES for EN1 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with EN1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EN1 Gene

Orthologs for EN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EN1 31 30
  • 98.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EN1 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EN1 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EN1 31 30
  • 87.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia En1 30
  • 84.56 (n)
mouse
(Mus musculus)
Mammalia En1 17 31 30
  • 83.67 (n)
oppossum
(Monodelphis domestica)
Mammalia EN1 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves EN1 31
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EN1 31
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia en1-A 30
zebrafish
(Danio rerio)
Actinopterygii eng1b 31 30
  • 72.58 (n)
OneToMany
eng1a 31
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta inv 31 32
  • 24 (a)
ManyToMany
en 31 32
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-16 31
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4370 31
  • 28 (a)
OneToMany
Species where no ortholog for EN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for EN1 Gene

ENSEMBL:
Gene Tree for EN1 (if available)
TreeFam:
Gene Tree for EN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EN1: view image

Paralogs for EN1 Gene

Paralogs for EN1 Gene

(2) SIMAP similar genes for EN1 Gene using alignment to 1 proteins:

  • HME1_HUMAN
genes like me logo Genes that share paralogs with EN1: view

Variants for EN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EN1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs749569923 Likely Benign: not specified 118,846,940(-) T/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EN1 Gene

Variant ID Type Subtype PubMed ID
nsv1072021 CNV deletion 25765185
nsv1118875 CNV deletion 24896259
nsv582783 CNV gain 21841781
nsv954799 CNV deletion 24416366

Variation tolerance for EN1 Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EN1 Gene

Human Gene Mutation Database (HGMD)
EN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EN1 Gene

Disorders for EN1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EN1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sudden infant death syndrome
  • sids
adenoid cystic carcinoma
  • salivary gland adenoid cystic carcinoma
purine-pyrimidine metabolic disorder
  • inborn errors of purine-pyrimidine metabolism
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search EN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EN1 Gene

Publications for EN1 Gene

  1. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PMID: 19018235) Laroche F … Robel L (Psychiatric genetics 2008) 3 23 41 54
  2. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PMID: 15240857) Weese-Mayer DE … Marazita ML (Pediatric research 2004) 3 23 41 54
  3. Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions. (PMID: 1363401) Logan C … Joyner AL (Developmental genetics 1992) 3 4 23 54
  4. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PMID: 19345444) Haubenberger D … Zimprich A (Neurobiology of aging 2011) 3 41 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for EN1 Gene

Sources for EN1 Gene