VAX1
Ventral anterior homeobox 1
Also known as: VAX1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5SQQ9
- Gene
- VAX1
- Ensembl
- ENSG00000148704
- Chromosome
- 10
- Canonical length
- 334 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli rim
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
334 residues, UniProt reviewed canonical sequence.
>Q5SQQ9|VAX1
1 MFGKPDKMDV RCHSDAEAAR VSKNAHKESR ESKGAEGNLP AAFLKEPQGA FSASGAAEDC
61 NKSKSNSAAD PDYCRRILVR DAKGSIREII LPKGLDLDRP KRTRTSFTAE QLYRLEMEFQ
121 RCQYVVGRER TELARQLNLS ETQVKVWFQN RRTKQKKDQG KDSELRSVVS ETAATCSVLR
181 LLEQGRLLSP PGLPALLPPC ATGALGSALR GPSLPALGAG AAAGSAAAAA AAAPGPAGAA
241 SPHPPAVGGA PGPGPAGPGG LHAGAPAAGH SLFSLPVPSL LGSVASRLSS APLTMAGSLA
301 GNLQELSARY LSSSAFEPYS RTNNKEGAEK KALDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against VAX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.64
- Highest tissue expression
- 4.9 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 4.9 nTPM
- hypothalamus: 2.9 nTPM
- cerebral cortex: 0.8 nTPM
- amygdala: 0.6 nTPM
- hippocampal formation: 0.6 nTPM
- spinal cord: 0.6 nTPM
Single-cell type
- other brain neurons: 5.7 nCPM
- choroid plexus epithelial cells: 5.1 nCPM
- brain inhibitory neurons: 3.4 nCPM
- late spermatids: 3.1 nCPM
- ependymal cells: 2.6 nCPM
- oligodendrocytes: 2.3 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 18 nTPM
- basal ganglia: 11 nTPM
- white matter: 7.5 nTPM
- cerebral cortex: 5.9 nTPM
- thalamus: 4.9 nTPM
- amygdala: 2.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about VAX1.
Disease | AllUniProt
Conditions VAX1 is implicated in, by any mechanism.
- Microphthalmia, syndromic, 11 (MCOPS11) MIM:614402
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 83 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microphthalmia, syndromic 11
- Microphthalmia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.52
- gnomAD pLI
- 0.77
- gnomAD missense Z
- 0.87
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- astrocyte differentiation
- axon guidance
- brain development
- camera-type eye development
- central nervous system development
- negative regulation of neuroblast proliferation
- neuroblast proliferation
- neuroepithelial cell differentiation
- neuron differentiation
- neuron migration
- regulation of transcription by RNA polymerase II
- roof of mouth development
- skeletal muscle cell differentiation
Molecular functions
- chromatin DNA binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads VAX1 as an antibody target. Whether an autoantibody or antibody against VAX1 could matter depends on whether native VAX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
VAX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label VAX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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