EN1 (gene)

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Engrailed homeobox 1
Identifiers
Symbol EN1
External IDs OMIM131290 MGI95389 HomoloGene50663 GeneCards: EN1 Gene
RNA expression pattern
PBB GE EN1 220559 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2019 13798
Ensembl ENSG00000163064 ENSMUSG00000058665
UniProt Q05925 P09065
RefSeq (mRNA) NM_001426 NM_010133
RefSeq (protein) NP_001417 NP_034263
Location (UCSC) Chr 2:
119.6 – 119.61 Mb
Chr 1:
120.6 – 120.61 Mb
PubMed search [1] [2]

Homeobox protein engrailed-1 is a protein that in humans is encoded by the EN1 gene.[1][2]

Function[edit]

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.[2]

Engrailed (En) 1 is a homeobox gene that helps primarily regulate development in the dorsal midbrain and anterior hindbrain (cerebellum and colliculi) of humans. The expression of En1 is regulated until 13 days after fertilization by Fgf8, which controls the development of the forebrain and hindbrain. En1 is first expressed in this region on day 9.5 after fertilization for about 12 hours until En2 is expressed. After En2 expression, En1 is expressed again in other tissues such as somites and limb ectoderm throughout development.[3] A knockout mouse model with the En1 homeobox deleted was developed; mice died less than 24 hours after birth because they refused to feed, although they had the physical ability. The brains of the mice were studied and most of the cerebellum, colliculi, and cranial nerves 3 and 4 were missing. There was clear deletion in the mid-hindbrain, isthmus, junction region that began at day 9.5 after fertilization. All of the mice demonstrated marked forepaw deformities including fusion of digits and sixth digits. The 13th ribs and sternums displayed delayed and abnormal ossification. The mouse model demonstrated that the expression of En1 is critical in the correct development of the brain, limbs, and sternum.[4]

References[edit]

  1. ^ Kohler A, Logan C, Joyner AL, Muenke M (Mar 1993). "Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21". Genomics 15 (1): 233–235. doi:10.1006/geno.1993.1045. PMID 8094370. 
  2. ^ a b "Entrez Gene: EN1 engrailed homeobox 1". 
  3. ^ Sgaier SK, Lao Z, Villanueva MP, Berenshteyn F, Stephen D, Turnbull RK, Joyner AL (June 2007). "Genetic subdivision of the tectum and cerebellum into functionally related regions based on differential sensitivity to engrailed proteins". Development 134 (12): 2325–35. doi:10.1242/dev.000620. PMC 2840613. PMID 17537797. 
  4. ^ Wurst W, Auerbach AB, Joyner AL (July 1994). "Multiple developmental defects in Engrailed-1 mutant mice: an early mid-hindbrain deletion and patterning defects in forelimbs and sternum". Development 120 (7): 2065–75. PMID 7925010. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.