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FLASH GENE

Symbol

EN1

contributors: mct - updated : 27-03-2019

HGNC name	engrailed homeobox 1
HGNC id	3342

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001426 2 - 2962 NP_001417 - 392 - 2014 24685177

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain hindbrain cerebellum     Mus musculus Fetal Reproductive female system placenta     lowly Respiratory lung       lowly Skin/Tegument skin appendages skin gland       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     lowly Epithelial secretory glandular exocrine   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Mus musculus Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	pregnancy, embryo, ventral limb ectoderm

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an eukaryotic translation initiation factor 4E (eIF4E) binding domain
	five EN homology regions (EH)
	a Groucho binding domain
	two PBX binding domains
	an helix-turn-helix DNA binding domain
	a cell penetration domain
	a C-terminal transcriptional repression domain

HOMOLOGY

interspecies	homolog to murine En1 (95.10 pc)
	homolog to drosophila en (70.00 pc)

intraspecies

paralog to EN2 gene

Homologene

FAMILY

engrailed homeobox family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	regulator of the ventral limb patterning
	inhibiting WNT7A expression in ventral limb bud
	involved in transcriptional and translational modulation
	seems to be capable of acting as a morphogen in its own right
	EN1, EN2 represent a new class of genes that are fundamental to patterning cerebellum foliation throughout the mediolateral axis and that act late in development
	EN1, EN2 are required for patterning the morphological and molecular domains along both axes, as well as for the establishment of the normal afferent topography required to generate a fully functional cerebellum
	functions upstream of FGFR2 in regulating early calvarial osteogenic differentiation, and likely it plays an additional role in precluding premature osteogenic conversion of the sutural mesenchyme
	EN1 and EN2 have overlapping functions in the cells derived from each progenitor zone in regulating formation of additional fissures and for extensive cerebellar growth
	is an activator of intrinsic inflammatory pathways associated with prosurvival in basal-like breast cancer
	expressed in the ventral ectoderm of the developing limb where it plays an instructive role in the dorsal-ventral patterning of the forelimb (PMUID: 25710467)
	EN1 but not EN2 has a direct and specific repulsive effect on motor axons of the lateral aspect of the lateral motor column (LMC) but not on medial LMC projections
	important roles for EN1 in the development and maturation of a diverse group of brainstem auditory neurons
	is a gene important for ventral nuclei of the lateral lemniscus (VNLL) neuron development and survival
	regulated levels of PITX3 and EN1 control the size and rostral/caudal-identity of the Mesodiencephalic dopaminergic (mdDA) neuronal population
	plays an important role in the regionalization of the neural tube

CELLULAR PROCESS	nucleotide, transcription, regulation
	protein, translation regulation

PHYSIOLOGICAL PROCESS

development , nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

binding

cell & other

REGULATION

induced by

FGF8

Other

regulated by NURF complex

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     repression of the entire 4-Mb band of chromosome 2q.14.2, associated with global methylation of histone H3 Lys9 in colorectal cancer tumoral     --other   expressed focally in the epidermal neoplasms of seborrheic keratosis and squamous cell carcinoma constitutional         causes mispatterning of the forelimb and thus defects in the dorsal-ventral pathfinding choice of motor axons

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

En1 knockout mice