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EN1 Gene(Protein Coding)

Engrailed Homeobox 1

GCID:
GC02M118842
GIFtS:
47
Genes Participants
UDN Logo

Aliases for EN1 Gene

Aliases for EN1 Gene

  • Engrailed Homeobox 1 2 3 5
  • Homeobox Protein En-1 3 4
  • Hu-En-1 3 4
  • Homeobox Protein Engrailed-1 3
  • 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 Tyrosinemia, Type Iii and Sudden Infant Death Syndrome. Among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EN1 Gene

Genomics for EN1 Gene

Products:

  1. Regulatory Element

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
GH02I118846 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 0.0 -1 2.8 PKNOX1 ZNF335 GATA2 EGR1 CREM ZNF362 USF2 ZNF398 SP1 NFIC EN1 MARCO
GH02I118223 Enhancer 0.8 Ensembl ENCODE 11.9 +623.4 623435 3 PKNOX1 SUZ12 BMI1 CBX8 POLR2A IKZF1 MLLT1 EZH2 SPI1 LOC105373578 EN1 LOC105373579 GC02M118174
GH02I118222 Enhancer 0.6 ENCODE 11.9 +626.0 625983 0.2 CTCF ZNF654 ZNF511 TRIM22 SIN3A BMI1 REST RAD21 SMC3 ZNF143 EN1 LOC105373578 LOC100506797 GC02M118174
GH02I118842 Enhancer 0.8 Ensembl ENCODE 0.8 +3.9 3905 4.4 L3MBTL2 SUZ12 MAX BMI1 SP1 POLR2A E2F8 CTBP2 MGA EZH2 EN1 LINC01956
GH02I118855 Enhancer 0.8 ENCODE 0.4 -7.6 -7647 0.1 ELF3 RB1 ARID4B ZNF2 ZNF48 RAD21 ZEB1 ZNF335 ARID2 ZNF143 EN1 MARCO
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EN1 gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for EN1 Gene

Proteins for EN1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for EN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EN1 Gene

No Post-translational modifications

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EN1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 21672318
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
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 tm2Alj
  • En1 tm2(cre)Wrst
  • En1 tm1.1(Wnt1)Wrst
  • En1 tm1Alj
  • En1 tm1Gld
  • En1 tm3(En2)Alj
  • En1 tm3.1(En2)Alj

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Nucleus.

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 1
extracellular 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for EN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 24399192
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:0007275 multicellular organism development IEA --
GO:0008344 adult locomotory behavior 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for EN1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EN1 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(6) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EN1 Gene

Engrailed homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for EN1 Gene

GeneLoc Exon Structure for
EN1
ECgene alternative splicing isoforms for
EN1

Expression for EN1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for EN1 Gene
mRNA expression by BioGPS for EN1 GenemRNA expression by GTEx 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, PaxDb, and MOPED for EN1 Gene



Protein tissue co-expression partners for EN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EN1 Gene:

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

Primer Products

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 33 34
  • 98.68 (n)
dog
(Canis familiaris)
 Mammalia EN1 34
  • 95 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EN1 34
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia EN1 33 34
  • 87.39 (n)
rat
(Rattus norvegicus)
 Mammalia En1 33
  • 84.56 (n)
mouse
(Mus musculus)
 Mammalia En1 33 16 34
  • 83.67 (n)
oppossum
(Monodelphis domestica)
 Mammalia EN1 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EN1 34
  • 95 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EN1 34
  • 98 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia en1-A 33
zebrafish
(Danio rerio)
 Actinopterygii eng1b 33 34
  • 72.58 (n)
eng1a 34
  • 59 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta en 35 34
  • 70 (a)
inv 34 35
  • 24 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ceh-16 34
  • 41 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.4370 34
  • 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)

Paralogs for EN1 Gene

Paralogs for EN1 Gene

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

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

Variants for EN1 Gene

Sequence variations from dbSNP and Humsavar for EN1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs749569923 likely-benign, not specified 118,846,940(-) T/C/G coding_sequence_variant, synonymous_variant
rs1000120526 -- 118,843,466(-) G/A intron_variant
rs1000996333 -- 118,849,589(-) C/T upstream_transcript_variant
rs1001293117 -- 118,842,766(-) A/C 3_prime_UTR_variant
rs1001346452 -- 118,842,442(-) G/A 3_prime_UTR_variant

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

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: HGMD, DISEASES, Novoseek, and GeneCards

- 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 22 44 58
  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 22 44 58
  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 22 58
  4. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PMID: 19345444) Haubenberger D … Zimprich A (Neurobiology of aging 2011) 3 44 58
  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 44 58

Products for EN1 Gene

Sources for EN1 Gene

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