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

Expression

All Expression Data

28 figures from 17 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:77277 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With vax1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
syndromic microphthalmia 11	Alliance	?Microphthalmia, syndromic 11	614402

Associated With vax1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR000047	Helix-turn-helix motif
Conserved_site	IPR017970	Homeobox, conserved site
Domain	IPR001356	Homeobox domain
Homologous_superfamily	IPR009057	Homeobox-like domain superfamily