ENAH (Enabled homolog, Drosophila) is a protein-coding gene located on human chromosome 1 (band 1q42.12). It encodes the protein enabled homolog (also known as Mena or NDPP1), a member of the Ena/VASP (Enabled/vasodilator-stimulated phosphoprotein) family of actin-regulatory proteins.
Gene Details
- Full name: ENAH actin regulator
- Aliases: ENA, MENA, NDPP1, FLJ10773
- Chromosomal location: Chromosome 1, q42.12 (GRCh38: 225,486,835 – 225,653,142 bp)
- Gene size: Approximately 157 kb, containing 14 major exons
- Entrez Gene ID: 55740 (human); 13800 (mouse)
- UniProt ID: Q8N8S7 (human); Q03173 (mouse)
Protein Function
The ENAH-encoded protein (protein enabled homolog / Mena) is an actin-regulatory scaffold that:
- Couples membrane receptors and adhesion structures to actin filament assembly
- Promotes the formation of filopodia and lamellipodia
- Regulates focal adhesion dynamics
- Facilitates cell motility and migration
- Participates in axon guidance
- Binds actin, profilin, SH3 domains, and WW domains
Molecular Interactions
ENAH has been shown to interact with:
- ABI1 (Abl interactor 1)
- ZYX (Zyxin)
- PCARE (Photoreceptor cilium actin regulator)
- Profilin
- FE65 (via WW domain interaction)
Clinical Significance
- Overexpression of ENAH has been associated with poor survival in various cancers, including gastric cancer and breast cancer
- Diseases associated with ENAH include Alacrima, Achalasia, and Impaired Intellectual Development Syndrome and gastric papillary adenocarcinoma
- The protein is a serex-defined antigen overexpressed in breast cancer, capable of eliciting both humoral and CD8+ T-cell immune responses
Expression
ENAH is broadly expressed in human tissues, with highest levels found in the saphenous vein, colon epithelium, secondary oocytes, vena cava, urethra, seminal vesicle, cardia, ventricular zone, Achilles tendon, and skeletal muscle of the rectus abdominis.
