Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol VAX1 contributors: mct - updated : 11-02-2014
HGNC name ventral anterior homeobox 1
HGNC id 12660
Corresponding disease
MCOPS11 microphthalmia, syndromic 11
Location 10q25.3      Physical location : 118.888.031 - 118.897.812
Synonym symbol(s) MGC126743, MGC126745
DNA
TYPE like-sequence
SPECIAL FEATURE
text tightly linked to EMX2 in mouse and human
STRUCTURE 9.78 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1968 34 334 - 1999 1060103
4 - 4494 - 186 - 1999 1060103
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis   
Visualeye    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text specifically, in the developing basal forebrain and optic nerve
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix turn helix, DNA binding domain
  • HOMOLOGY
    Homologene
    FAMILY
  • EMX homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in the establishment of structures of the visual system
  • essential for the correct differentiation of ependyma and astrocytes
  • potent regulator of subventricular zone organization and NSC proliferation, with important consequences on postnatal neurogenesis
  • homeodomain transcription factor with a role in eye and optic chiasm development, causing the rostral oral ectoderm to form an ectopic fold that eventually develops into a separate second pituitary with all the pituitary cell types and neuronal fibers characteristic of the normal pituitary
  • might be involved in the pathogenesis of optic nerve dysplasia
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCOPS11
    Susceptibility to nonsyndromic cleft lip with or without cleft palate (NSCL/P)
    Variant & Polymorphism SNP
  • rs10787760, rs6585429 and rs1871345 polymorphisms associated with NSCL/P
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS