EN1 (Engrailed Homeobox 1)
Homeobox transcription factor involved in midbrain and limb development
Gene Information Card
| Symbol | EN1 |
|---|---|
| Full Name | Engrailed Homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q14.2 |
| NCBI Gene ID | 2019 ncbi.nlm.nih.gov/gene/2019 |
| Ensembl ID | ENSG00000163064 |
| UniProt ID | Q05925 |
| OMIM ID | 131290 |
| HGNC ID | 3342 |
| Aliases | En-1, engrailed homolog 1 |
Description
EN1 encodes a homeobox-containing transcription factor that plays a critical role in early embryonic development, particularly in the patterning of the midbrain and hindbrain, as well as limb formation. It is a member of the engrailed family of homeodomain proteins and acts as a transcriptional repressor. EN1 is essential for proper neuronal differentiation and survival of dopaminergic neurons in the substantia nigra.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant striatal degeneration | Heterozygous missense mutations in EN1 disrupt protein function leading to progressive motor dysfunction | OMIM #609161, ClinVar |
| Congenital limb malformations | Loss-of-function variants impair limb bud patterning | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 8.3 | Medium |
| Spinal cord | 6.1 | Low |
| Testis | 2.4 | Low |
| Kidney | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| SK-N-SH | 10.8 | Neuroblastoma cell line |
| HEK 293 | 0.5 | Low expression |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Ile) | Missense | Rare | Loss of DNA-binding activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.763_764delAG | Frameshift | Rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Most EN1 mutations result in loss of function, impairing transcriptional repression activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type EN1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway
• Wnt signaling pathway
• Neural crest differentiation
Protein Summary
EN1 is a 333-amino acid homeodomain transcription factor that localizes to the nucleus. It contains a highly conserved homeobox DNA-binding domain and an engrailed homology region (EH1) that mediates transcriptional repression via interaction with Groucho/TLE co-repressors. The protein is critical for specifying midbrain identity and maintaining dopaminergic neuron survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EN1 Knockout HEK293 Cell Line | EDJ-KQ4529 | Human | 2019 | Details Get a Quote |
| EN1 Knockout HeLa Cell Line | EDJ-KQ27145 | Human | 2019 | Details Get a Quote |
| EN1 Knockout A-549 Cell Line | EDJ-KQ61633 | Human | 2019 | Details Get a Quote |
| EN1 Knockout HCT 116 Cell Line | EDJ-KQ70118 | Human | 2019 | Details Get a Quote |
