VAX1 Gene Summary [Human]
This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | VAX1 |
| Official Name | ventral anterior homeobox 1 [Source:HGNC Symbol;Acc:HGNC:12660] |
| Ensembl ID | ENSG00000148704 |
| Bio databases IDs | |
| Aliases | ventral anterior homeobox 1 |
| Synonyms | LOC108349709, MCOPS11, ventral anterior homeobox 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human VAX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- syndromic microphthalmia type 11
- microphthalmia
- coloboma
- cleft palate
- hypogonadism
- delayed puberty
regulated by
- ZFHX3
- RGFP966
role in cell
- proliferation
- quantity
- binding in
- activation in
- differentiation
- binding
- migration
- number
- penetration
- guidance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VAX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuroepithelial cell differentiation
- astrocyte differentiation
- neuron differentiation
- palate development
- axon guidance
- brain development
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- neuron migration
- neuroblast proliferation
- negative regulation of neuroblast proliferation
- central nervous system development
- skeletal muscle cell differentiation
- camera-type eye development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity