OVOL1 (Ovo Like Transcriptional Repressor 1)
A key regulator of epithelial differentiation and hair follicle development, implicated in skin disorders and cancer.
Gene Information Card
| Symbol | OVOL1 |
|---|---|
| Full Name | Ovo Like Transcriptional Repressor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 5017 ncbi.nlm.nih.gov/gene/5017 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | O14777 |
| OMIM ID | 602753 |
| HGNC ID | 8525 |
| Aliases | HOVO1, OVO, OVO1 |
Description
OVOL1 encodes a zinc finger transcription factor that acts as a transcriptional repressor. It is a key regulator of epithelial cell differentiation, hair follicle morphogenesis, and spermatogenesis. OVOL1 is involved in the balance between proliferation and differentiation in epithelial tissues and has been implicated in skin disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hypotrichosis simplex | Loss-of-function mutations in OVOL1 disrupt hair follicle development | OMIM #602753 |
| Atopic dermatitis | Genetic variants in OVOL1 are associated with increased risk | ClinVar, NCBI GWAS |
| Squamous cell carcinoma | OVOL1 downregulation promotes epithelial-mesenchymal transition and invasion | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Prostate | 6.1 | Low |
| Testis | 4.7 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.2 | High expression in keratinocytes |
| A431 (epidermoid carcinoma) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
| HeLa (cervical cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function; associated with hereditary hypotrichosis simplex |
| c.497G>A (p.Arg166Gln) | Missense | 0.01% | Likely benign; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function; potential disease association |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, leading to loss of transcriptional repressor activity and impaired epithelial differentiation.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported in OVOL1.
Dominant Negative (DN)
Not established; OVOL1 mutations are typically recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial-to-mesenchymal transition (EMT) regulation
• Hair follicle development pathway
• TGF-beta signaling pathway (via SMAD interaction)
Protein Summary
OVOL1 is a 275-amino acid zinc finger transcription factor that localizes to the nucleus. It functions primarily as a transcriptional repressor, binding to DNA via its C2H2 zinc finger domains. OVOL1 represses target genes involved in cell proliferation and promotes differentiation in epithelial tissues. It interacts with OVOL2 and other transcription factors to regulate hair follicle cycling and skin homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OVOL1 Knockout HEK293 Cell Line | EDJ-KQ2470 | Human | 5017 | Details Get a Quote |
| OVOL1 Knockout HCT 116 Cell Line | EDJ-KQ24410 | Human | 5017 | Details Get a Quote |
| OVOL1 Knockout HeLa Cell Line | EDJ-KQ54065 | Human | 5017 | Details Get a Quote |
| OVOL1 Knockout A-549 Cell Line | EDJ-KQ62552 | Human | 5017 | Details Get a Quote |
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