EN1 - engrailed homeobox 1 Gene

Homo sapiens

Also known as ENDOVESLB

Gene ID: 2019 | Gene type: protein coding

About EN1

Cytogenetic location: 2q14.2 Genomic coordinates (GRCh38): 2:118,842,171-118,847,648 (from NCBI)

This gene has 2 transcripts (splice variants), 239 orthologues, 3 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

Summary

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]

EN1 Products(1)

mRNA	Protein	Name
NM_001426.4	NP_001417.3	homeobox protein engrailed-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21672318	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	21672318	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21672318	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	24399192	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EN1 Protein Structure

Homeobox

Engrail_1_C_sig

0
100
200
300
392 a.a.

Protein Preferred Names

Protein Names

homeobox protein engrailed-1

engrailed homolog 1

Related Diseases

Diseases

Alias

Endove Syndrome, Limb-Brain Type

ENDOVESLB	Mesomelia Of Lower Extremities With Hand, Foot, And Brain Anomalies
Mlehfb

Eccrine Porocarcinoma

Porocarcinoma	Eccrine Porocarcinoma Of Skin
Malignant Eccrine Poroma

Endove Syndrome, Limb-Only Type

ENDOVESL	Mesomelia Of Lower Extremities With Hand And Foot Anomalies
Mlehf

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures

MRD55	Mental Retardation, Autosomal Dominant 55, With Seizures
Autosomal Dominant Mental Retardation 55	Autosomal Dominant Intellectual Developmental Disorder 55
Autosomal Dominant Intellectual Developmental Disorder-55 With Seizures	Mental Retardation, Autosomal Dominant, Type 55, With Seizures

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Arthrogryposis, Distal, Type 2a

Freeman-Sheldon Syndrome	Craniocarpotarsal Dystrophy
Craniocarpotarsal Dysplasia	DA2A
Whistling Face-Windmill Vane Hand Syndrome	Fss
Distal Arthrogryposis Type 2a	Whistling Face Syndrome
Freeman-Burian Syndrome	Arthrogryposis Distal Type 2a
Distal Arthrogryposis, Type 2a	Fbs
Arthrogryposis, Distal, 2a

Cerebellar Hypoplasia

Salivary Gland Adenoid Cystic Carcinoma

Cylindroma

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (32)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139298	L319		≥98.0%	Unkown
HY-W010639	4-Penten-1-ol		99.78%	Unkown
HY-W013507	Methyl 2-(3-oxo-2-(pent-2-en-1-yl)cyclopentyl)acetate		99.37%	Unkown
HY-W000981	1-Cyclopentenylboronic acid		≥97.0%	Unkown
HY-W015515	L-Citronellol		/	Unkown
HY-W016976	Allyl heptanoate		≥95.0%	Unkown
HY-N12135	15α-Hydroxy-20-oxo-6,7-seco-ent-kaur-16-en-1,7α(6,11α)-diolide		/	Unkown
HY-N1873	(E)-4-(3,4-Dimethoxyphenyl)but-3-en-1-ol		/	Unkown
HY-N2296	(2R,3R)-3,7-Dihydroxy-2-(4-hydroxyphenyl)-5-methoxy-8-(3-methylbut-2-en-1-yl)chroman-4-one		/	Unkown
HY-RS04365	EN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W015936	(E)-Hex-2-en-1-ol		99.71%	Unkown
HY-W017558	(Z)-Non-6-en-1-ol		/	Unkown
HY-W127449	trans-2-Nonen-1-ol		/	Unkown
HY-W283271	3-Methylcyclohex-2-en-1-ol		/	Unkown
HY-Y0400S	2-Bromoethylammonium-d4 bromide		/	Unkown
HY-165707	3-(((Z)-Octadec-9-en-1-yl)oxy)propane-1,2-diyl dioleate		/	Unkown
HY-165708	7(E)-Nonadecenol		/	Unkown
HY-165708A	(Z)-Nonadec-7-en-1-ol		/	Unkown
HY-165728	(Z)-Octadec-9-en-1-yl methylglycinate		/	Unkown
HY-165841	11(E)-Octadecenol		/	Unkown
HY-165883	15(Z)-Tetracosenol		/	Unkown
HY-165894	Myristoleyl behenate		/	Unkown
HY-166005	Myristoleyl laurate		/	Unkown
HY-166006	Myristoleyl myristate		/	Unkown
HY-N12898	(Z)-Tetradec-7-en-1-ol	Activator	/	Unkown
HY-N9018	4-(6-Methyl-4-oxohept-5-en-2-yl)cyclohex-2-en-1-one		/	Unkown
HY-W008836S	(E)-Hex-3-en-1-ol-d2		/	Unkown
HY-W009815S2	6-Heptyltetrahydro-2H-pyran-2-one-d7		/	Unkown
HY-W026038	(Z)-Non-2-en-1-ol		/	Unkown
HY-W142921S	Allyl methyl disulfide-d3		/	Unkown
HY-W838865	11-Dodecenol		/	Unkown
HY-W923632	(Z)-Tetradec-9-en-1-ol		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EN1	RGD	RGD:1595088
Mus musculus	EN1	MGD	MGI:95389
Bos taurus	EN1	VGNC	VGNC:28487
Felis catus	EN1	VGNC	VGNC:107530
Canis familiaris	EN1	VGNC	VGNC:54804
Macaca mulatta	EN1	VGNC	VGNC:104525
Others	EN1	NCBI

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