En1 engrailed 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: En1provided by MGI
Official Full Name: engrailed 1provided by MGI
Primary source: MGI:MGI:95389
See related: Ensembl:ENSMUSG00000058665 AllianceGenome:MGI:95389
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: En-1; Mo-en.1; engrailed-1
Summary: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including brain development; embryonic brain development; and motor learning. Acts upstream of or within several processes, including embryonic forelimb morphogenesis; nervous system development; and regionalization. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; integumental system; and limb ectoderm. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in Parkinson's disease. Orthologous to human EN1 (engrailed homeobox 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E11.5 (RPKM 5.5), whole brain E14.5 (RPKM 3.8) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 E2.3; 1 52.74 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (120530246..120535719)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (120602487..120607991)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Differential modularity of the mammalian Engrailed 1 enhancer network directs sweat gland development.
Title: Differential modularity of the mammalian Engrailed 1 enhancer network directs sweat gland development.
Conditional loss of Engrailed1/2 in Atoh1-derived excitatory cerebellar nuclear neurons impairs eupneic respiration in mice.
Title: Conditional loss of Engrailed1/2 in Atoh1-derived excitatory cerebellar nuclear neurons impairs eupneic respiration in mice.
EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells via Hedgehog Signaling.
Title: EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells via Hedgehog Signaling.
Genetic targeting of adult Renshaw cells using a Calbindin 1 destabilized Cre allele for intersection with Parvalbumin or Engrailed1.
Title: Genetic targeting of adult Renshaw cells using a Calbindin 1 destabilized Cre allele for intersection with Parvalbumin or Engrailed1.
Engrailed 1 coordinates cytoskeletal reorganization to induce myofibroblast differentiation.
Title: Engrailed 1 coordinates cytoskeletal reorganization to induce myofibroblast differentiation.
Preventing Engrailed-1 activation in fibroblasts yields wound regeneration without scarring.
Title: Preventing Engrailed-1 activation in fibroblasts yields wound regeneration without scarring.
Following intrastriatal injection of pre-formed alpha-synuclein fibrils, absence of an En1 allele leads to additional aggregation of pathological alpha-syn, potentially due to En1-loss mediated nigrostriatal impairment
Title: Loss of One Engrailed1 Allele Enhances Induced α-Synucleinopathy.
LINE-1 overexpression triggers oxidative stress-induced DNA strand breaks and that an Engrailed-1 adult function is to protect mesencephalic dopaminergic neurons through the repression of LINE-1 expression.
Title: Engrailed homeoprotein blocks degeneration in adult dopaminergic neurons through LINE-1 repression.
C57Bl/6-engrailed-1 (En1+/-) mice do not display the neurodegenerative phenotype, suggesting that susceptibility to En1 heterozygosity is genetically regulated.
Title: Identification of Multiple QTLs Linked to Neuropathology in the Engrailed-1 Heterozygous Mouse Model of Parkinson's Disease.
En1 is important for ventral nuclei of the lateral lemniscus neuron development and survival.
Title: En1 is necessary for survival of neurons in the ventral nuclei of the lateral lemniscus.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7) 1 citation
Targeted (18) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1Mit217 (e-PCR), detects polymorphism
- UniSTS:116257

RH104030 (e-PCR)
- UniSTS:98355

PMC314463P1 (e-PCR)
- UniSTS:272950

En1 (e-PCR), detects polymorphism
- UniSTS:234047

En1 (e-PCR), detects polymorphism
- UniSTS:525900

En1 (e-PCR), detects polymorphism
- UniSTS:142987

En1 (e-PCR), detects polymorphism
- UniSTS:547217

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellum development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dopaminergic neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in drinking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic forelimb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindbrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within midbrain development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in midbrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within midbrain-hindbrain boundary development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motor learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within proximal/distal pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in social behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: homeobox protein engrailed-1

Names: homeobox protein en-1; mo-En-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010133.3 → NP_034263.2 homeobox protein engrailed-1

See identical proteins and their annotated locations for NP_034263.2

Status: VALIDATED

Source sequence(s)

AC133286

Consensus CDS

CCDS15235.1

UniProtKB/Swiss-Prot

P09065, Q3USF7

Related

ENSMUSP00000078659.8, ENSMUST00000079721.9

Conserved Domains (2) summary

pfam00046
Location:315 → 368

Homeobox; Homeobox domain

pfam10525
Location:370 → 399

Engrail_1_C_sig; Engrailed homeobox C-terminal signature domain