Gene
vax1
- ID
- ZDB-GENE-030904-9
- Name
- ventral anterior homeobox 1
- Symbol
- vax1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in camera-type eye morphogenesis; negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator; and nervous system development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in syndromic microphthalmia. Is expressed in several structures, including eye; forebrain; forebrain neural keel; optic cup; and optic vesicle. Orthologous to human VAX1 (ventral anterior homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 31 figures from 19 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77277 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| syndromic microphthalmia 11 | Alliance | ?Microphthalmia, syndromic 11 | 614402 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | EMX/VAX/Noto Homeobox Transcription Factors | Helix-turn-helix motif | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4I9B5
|
317 | |||||
|
UniProtKB:Q801E0
|
317 |
Interactions and Pathways
No data available
Plasmids
No data available