Gene
vsx1
- ID
- ZDB-GENE-990415-205
- Name
- visual system homeobox 1 homolog, chx10-like
- Symbol
- vsx1 Nomenclature History
- Previous Names
-
- etID309864.17 (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Enables chromatin binding activity and transcription cis-regulatory region binding activity. Acts upstream of or within several processes, including negative regulation of axial mesodermal cell fate specification; nervous system development; and paraxial mesodermal cell fate specification. Predicted to be active in nucleus. Is expressed in blastomere; immature eye; nervous system; and neural tube. Human ortholog(s) of this gene implicated in corneal dystrophy; keratoconus; and posterior polymorphous corneal dystrophy 1. Orthologous to human VSX1 (visual system homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 40 figures from 22 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73233 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| keratoconus | Alliance | Keratoconus 1 | 148300 |
| ?Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CVC domain | Homedomain-like superfamily | Homeobox, conserved site | Homeobox domain-containing protein | Homeodomain |
|---|---|---|---|---|---|---|---|
| UniProtKB:F1QBH3 | InterPro | 340 | |||||
| UniProtKB:O42250 | InterPro | 344 |
Interactions and Pathways
No data available
Plasmids
No data available