EN1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | EN1 |
| Official Name | engrailed homeobox 1 [Source:HGNC Symbol;Acc:HGNC:3342] |
| Ensembl ID | ENSG00000163064 |
| Bio databases IDs | |
| Aliases | engrailed homeobox 1 |
| Synonyms | ENDOVESLB, engrailed-1, engrailed homeobox 1, LOC679094, Mo-en.1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- alpha helix
- protein binding
- Hox hexapeptide motif
- Engrailed homeobox C-terminal signature domain
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- polydactyly
- Parkinson disease
- syndactyly
- limb-brain type ENDOVE syndrome
- hypoplasia
- adenoid cystic carcinoma
- aphagia
- metastatic colorectal cancer
role in cell
- formation
- formation in
- expression in
- generation
- apoptosis
- quantity
- development
- differentiation
- binding in
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- vesicles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- drinking behavior
- multicellular organism growth
- social behavior
- cerebellum development
- neuron differentiation
- response to cocaine
- midbrain-hindbrain boundary development
- anatomical structure morphogenesis
- adult locomotory behavior
- neuron development
- positive regulation of transcription from RNA polymerase II promoter
- proximal/distal pattern formation
- dorsal/ventral pattern formation
- negative regulation of neuron apoptotic process
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- midbrain development
- skeletal system development
- dopaminergic neuron differentiation
- pigmentation
- embryonic forelimb morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity