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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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is EN2.

Gene Wiki entry 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

Regulatory Elements for EN1 Gene

Enhancers for EN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G118223 0.9 Ensembl ENCODE 11.9 +623.4 623435 3.0 PKNOX1 RNF2 SUZ12 CBX2 BMI1 CBX8 POLR2A SMARCA4 IKZF1 RELB EN1 LOC105373578 LOC105373579
GH02G118222 0.6 ENCODE 11.9 +626.0 625984 0.2 CTCF ZNF654 ZNF511 TRIM22 BMI1 REST RAD21 SMC3 ZNF143 EZH2 EN1 LOC105373578 LOC100506797
GH02G118842 1 Ensembl ENCODE 0.7 +3.9 3905 4.4 CTCF SUZ12 MAX BMI1 RBBP5 POLR2A EZH2 L3MBTL2 RNF2 CBX2 EN1 LINC01956
GH02G118847 0.8 ENCODE 0.7 -0.2 -208 2.4 PKNOX1 FOXA2 CBX3 SUZ12 MAX ZNF384 RARA ZFHX2 GATA2 EGR1 EN1 MARCO
GH02G118855 0.9 ENCODE 0.4 -7.6 -7647 0.1 ELF3 RB1 ARID4B ZNF2 ZNF48 RAD21 ZEB1 ZNF143 THAP11 EGR2 EN1 MARCO
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EN1 on UCSC Golden Path with GeneCards custom track

Promoters for EN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000122308 983 801 CTCF ZNF777 ZNF362 RNF2 SUZ12 CBX2 ZNF384 ZBTB8A ZNF398 NFIC

Genomic Location for EN1 Gene

Chromosome:
2
Start:
118,842,171 bp from pter
End:
118,848,183 bp from pter
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

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

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

Gene Ontology (GO) - Molecular Function for EN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 21672318
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific 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 tm3(En2)Alj
  • En1 tm2(cre)Wrst
  • En1 tm1Gld
  • En1 tm1Alj
  • En1 tm2Alj
  • En1 tm1.1(Wnt1)Wrst
  • En1 tm3.1(En2)Alj

Animal Model 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

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

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 from RNA polymerase II promoter 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

Transcripts for EN1 Gene

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:

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, 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 34 35
  • 98.68 (n)
dog
(Canis familiaris)
Mammalia EN1 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EN1 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EN1 34 35
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia En1 34
  • 84.56 (n)
mouse
(Mus musculus)
Mammalia En1 34 16 35
  • 83.67 (n)
oppossum
(Monodelphis domestica)
Mammalia EN1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves EN1 35
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EN1 35
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia en1-A 34
zebrafish
(Danio rerio)
Actinopterygii eng1b 34 35
  • 72.58 (n)
eng1a 35
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta en 36 35
  • 70 (a)
inv 36 35
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-16 35
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4370 35
  • 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 Sequence Context AA Info Type
rs1000120526 -- 118,843,466(+) CTGGG(A/G)TCCCC intron-variant
rs1000996333 -- 118,849,589(+) CAAGC(C/T)GCCTC upstream-variant-2KB
rs1001293117 -- 118,842,766(+) CAAAA(A/C)TGCTG utr-variant-3-prime
rs1001346452 -- 118,842,442(+) GCACC(A/G)GAGAA utr-variant-3-prime
rs1001366688 -- 118,846,947(+) GGGGG(A/G)GGTGC reference, missense

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)

Relevant External Links 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: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tyrosinemia, type iii
  • tyrosinemia type iii
sudden infant death syndrome
  • cot death
salivary gland adenoid cystic carcinoma
  • adenoid cystic cancer
benign paroxysmal positional nystagmus
  • benign paroxysmal positional vertigo
- elite association - COSMIC cancer census association via MalaCards
Search EN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EN1

Genetic Association Database (GAD)
EN1
Human Genome Epidemiology (HuGE) Navigator
EN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EN1
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. (Psychiatr. Genet. 2008) 3 22 46 64
  2. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PMID: 15240857) Weese-Mayer D.E. … Marazita M.L. (Pediatr. Res. 2004) 3 22 46 64
  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 A.L. (Dev. Genet. 1992) 3 4 22 64
  4. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PMID: 19345444) Haubenberger D. … Zimprich A. (Neurobiol. Aging 2011) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for EN1 Gene

Sources for EN1 Gene

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