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EN1 Gene(Protein Coding)

Engrailed Homeobox 1

GCID:
GC02M118842
GIFtS:
57
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
  • 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 Salivary Gland Adenoid Cystic Carcinoma. Among its related pathways are 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 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

Regulatory Elements for EN1 Gene

Enhancers for EN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around EN1 on UCSC Golden Path with GeneCards custom track

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

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 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

Proteomics data for EN1 Gene at MOPED

Protein Expression for EN1 Gene

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

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:

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 :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the engrailed homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
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
  7. Flow Cytometry

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 for EN1 Gene

MGI mutant phenotypes for EN1:
inferred from 16 alleles
GenomeRNAi human phenotypes for EN1:
genes like me logo Genes that share phenotypes with EN1: view

Animal Models for EN1 Gene

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

Animal Model Products

miRNA for EN1 Gene

miRTarBase miRNAs that target EN1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for EN1 Gene COMPARTMENTS Subcellular localization image for EN1 gene
Compartment Confidence
nucleus 5
cytosol 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for EN1 Gene

Pathways & Interactions 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:0001501 skeletal system development TAS 8684466
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008344 adult locomotory behavior IEA --
GO:0009653 anatomical structure morphogenesis TAS 8094370
GO:0009954 proximal/distal pattern formation 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
  5. Flow Cytometry

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:

Inhibitory RNA Products

Flow Cytometry 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 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



SOURCE GeneReport for Unigene cluster for EN1 Gene Hs.271977

genes like me logo Genes that share expression patterns with EN1: view

Protein tissue co-expression partners for EN1 Gene

Primer Products

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
cow
(Bos Taurus)
 Mammalia EN1 35
  • 87.39 (n)
  • 90.46 (a)
EN1 36
  • 92 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia En1 35
  • 83.67 (n)
  • 88 (a)
En1 16
En1 36
  • 92 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia EN1 35
  • 98.68 (n)
  • 99.34 (a)
EN1 36
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia En1 35
  • 84.56 (n)
  • 88 (a)
dog
(Canis familiaris)
 Mammalia EN1 36
  • 95 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia EN1 36
  • 73 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EN1 36
  • 94 (a)
 OneToOne
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 eng1b 35
  • 72.58 (n)
  • 84.4 (a)
eng1a 36
  • 59 (a)
 OneToMany
eng1b 36
  • 68 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta en 37
  • 70 (a)
inv 37
  • 61 (a)
en 36
  • 22 (a)
 ManyToMany
inv 36
  • 24 (a)
 ManyToMany
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

(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
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
rs3731613 -- 118,848,184(-) TCCCG(G/T)AGCTC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv874956 CNV Loss 21882294

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

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
salivary gland adenoid cystic carcinoma
  • adenoid cystic cancer
benign paroxysmal positional nystagmus
  • benign paroxysmal positional vertigo
sudden infant death syndrome
  • cot death
- 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 23 48 67
  2. Model-based gene selection shows engrailed 1 is associated with antipsychotic response. (PMID: 18698228) Webb B.T. … van den Oord E.J. (Pharmacogenet. Genomics 2008) 3 23
  3. 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
  4. Deregulated expression of PAX5 in medulloblastoma. (PMID: 7777574) Kozmik Z. … Aguzzi A. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 23
  5. Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (PMID: 8094370) KAPhler A. … Muenke M. (Genomics 1993) 2 3

Products for EN1 Gene

Sources for EN1 Gene

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