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Aliases for EN1 Gene

Aliases for EN1 Gene

  • Engrailed Homeobox 1 2 3
  • 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

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 tyrosinemia. Among its related pathways are SIDS Susceptibility Pathways. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is EN2.

Gene Wiki entry for EN1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EN1 Gene

Genomics for EN1 Gene

Genomic Location for EN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EN1 Gene

Regulatory Elements 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

Proteomics data for EN1 Gene at MOPED

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 for EN1 Gene

Gene Families for EN1 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

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
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q05925
Family:
  • Belongs to the engrailed homeobox family.:
    • Q05925
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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA 21672318
GO:0003677 DNA binding --
GO:0005515 protein binding --
GO:0043565 sequence-specific DNA binding --
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for EN1 Gene

Localization for EN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EN1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EN1 Gene COMPARTMENTS Subcellular localization image for EN1 gene
Compartment Confidence
nucleus 5
cytosol 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EN1: view

Pathways for EN1 Gene

SuperPathways for EN1 Gene

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

Pathways by source for EN1 Gene

1 BioSystems pathway 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:0009653 anatomical structure morphogenesis TAS 8094370
GO:0009953 dorsal/ventral pattern formation IEA --
GO:0009954 proximal/distal pattern formation IEA --
genes like me logo Genes that share ontologies with EN1: view

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 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) (10.8), Brain - Substantia nigra (8.3), Muscle - Skeletal (8.0), and Skin - Not Sun Exposed (Suprapubic) (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EN1 Gene

SOURCE GeneReport for Unigene cluster for EN1 Gene Hs.271977

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

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 98.68 (n)
  • 99.34 (a)
EN1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EN1 35
  • 87.39 (n)
  • 90.46 (a)
EN1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EN1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia En1 35
  • 83.67 (n)
  • 88 (a)
En1 16
En1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EN1 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EN1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia En1 35
  • 84.56 (n)
  • 88 (a)
chicken
(Gallus gallus)
Aves EN1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EN1 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia en1-A 35
zebrafish
(Danio rerio)
Actinopterygii eng1a 36
  • 59 (a)
OneToMany
eng1b 35
  • 72.58 (n)
  • 84.4 (a)
eng1b 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta en 36
  • 22 (a)
ManyToMany
inv 36
  • 24 (a)
ManyToMany
en 37
  • 70 (a)
inv 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-16 36
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4370 36
  • 28 (a)
OneToMany
Species with no ortholog for EN1:
  • 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

Selected 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 MAF
rs750671 -- 118,849,314(+) AAGAA(C/T)CCCCC upstream-variant-2KB
rs893572 -- 118,849,894(-) CTTCC(G/T)CAGCC upstream-variant-2KB
rs893573 -- 118,849,442(-) AATTC(C/T)TGCTC upstream-variant-2KB
rs893574 -- 118,848,809(-) GCTTT(C/T)ATTTA upstream-variant-2KB
rs1438836 -- 118,844,728(+) GACAA(A/C)GAGTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv874956 CNV Loss 21882294

Relevant External Links for EN1 Gene

HapMap Linkage Disequilibrium report
EN1
Human Gene Mutation Database (HGMD)
EN1

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

Disorders for EN1 Gene

(2) University of Copenhagen DISEASES for EN1 Gene

(2) Novoseek inferred disease relationships for EN1 Gene

Disease -log(P) Hits PubMed IDs
sudden infant death syndrome 38.2 1
congenital malformation 18.7 1

Relevant External Links for EN1

Genetic Association Database (GAD)
EN1
Human Genome Epidemiology (HuGE) Navigator
EN1
genes like me logo Genes that share disorders with EN1: view

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

Publications for EN1 Gene

  1. 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 23
  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 23 48
  3. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PMID: 19018235) Laroche F. … Robel L. (Psychiatr. Genet. 2008) 3 23 48
  4. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 48
  5. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PMID: 19345444) Haubenberger D. … Zimprich A. (Neurobiol. Aging 2011) 3 48

Products for EN1 Gene

Sources for EN1 Gene

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