Entity Details

Primary name ALX3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95076
EntryNameALX3_HUMAN
FullNameHomeobox protein aristaless-like 3
TaxID9606
Evidenceevidence at transcript level
Length343
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesALX3

GO terms

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GOName
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:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007389 pattern specification process
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0042981 regulation of apoptotic process
GO:0048701 embryonic cranial skeleton 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
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR033211 Homeobox protein aristaless-like 3FamilyFamily

Diseases

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Disease IDSourceNameDescription
136760 OMIMFrontonasal dysplasia 1 (FND1)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.

Interactions

0 interactions

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