EN1 - engrailed homeobox 1 Gene

Also Known as ENDOVESLB

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2019

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
21672318 GOA
Cellular Component GO Annotation Evidence References 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

Homeobox: Homeobox domain (304 - 360)

Engrail_1_C_sig

Engrail_1_C_sig: Engrailed homeobox C-terminal signature domain (361 - 392)

  • 0
  • 100
  • 200
  • 300
  • 392 a.a.
Protein Preferred Names Protein Names

homeobox protein engrailed-1

  • engrailed homolog 1

EN1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82310 EN1 Antibody (YA2055) WB, IP, FC Human, Mouse, Rat

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

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