EN1 (gene)

Homeobox protein engrailed-1 is a protein that in humans is encoded by the EN1 gene.[5][6]

EN1
Identifiers
AliasesEN1, engrailed homeobox 1
External IDsOMIM: 131290 MGI: 95389 HomoloGene: 50663 GeneCards: EN1
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q14.2Start118,842,171 bp[1]
End118,847,648 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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: 118.84 – 118.85 MbChr 1: 120.6 – 120.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.[6]

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.[7] 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.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000163064 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000058665 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. "Entrez Gene: EN1 engrailed homeobox 1".
  7. 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.
  8. 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

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


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