Entity Details

Primary name ALX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15699
EntryNameALX1_HUMAN
FullNameALX homeobox protein 1
TaxID9606
Evidenceevidence at protein level
Length326
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesALX1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001755 neural crest cell migration
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0016604 nuclear body
GO:0042803 protein homodimerization activity
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048704 embryonic skeletal system morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR003654 OAR domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR033209 ALX homeobox protein 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
613456 OMIMFrontonasal dysplasia 3 (FND3)The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. The disease is caused by variants affecting the gene represented in this entry.