Entity Details

Primary name VAX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5SQQ9
EntryNameVAX1_HUMAN
FullNameVentral anterior homeobox 1
TaxID9606
Evidenceevidence at protein level
Length334
SequenceStatuscomplete
DateCreated2006-06-27
DateModified2021-06-02

Ontological Relatives

GenesVAX1

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001764 neuron migration
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007406 negative regulation of neuroblast proliferation
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0030182 neuron differentiation
GO:0031490 chromatin DNA binding
GO:0035914 skeletal muscle cell differentiation
GO:0043010 camera-type eye development
GO:0060021 roof of mouth development
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000047 Helix-turn-helix motifSiteConserved site
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR033020 Ventral anterior homeobox 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
614402 OMIMMicrophthalmia, syndromic, 11 (MCOPS11)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. The disease is caused by variants affecting the gene represented in this entry.