InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VAX1

Summary

InnateDB Protein

IDBP-90781.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VAX1

Protein Name

ventral anterior homeobox 1

Synonyms

MCOPS11;

Species

Homo sapiens

Ensembl Protein

ENSP00000358207

InnateDB Gene

IDBG-90777 (VAX1)

Protein Structure

UniProt Annotation

Function

Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Microphthalmia, syndromic, 11 (MCOPS11) [MIM:614402]: A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269PubMed:22095910}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0031490	chromatin DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001764	neuron migration
GO:0006351	transcription, DNA-templated
GO:0007399	nervous system development
GO:0007406	negative regulation of neuroblast proliferation
GO:0007411	axon guidance
GO:0007417	central nervous system development
GO:0007420	brain development
GO:0030154	cell differentiation
GO:0035914	skeletal muscle cell differentiation
GO:0043010	camera-type eye development
GO:0060021	palate development