Entity Details

Primary name DLX3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60479
EntryNameDLX3_HUMAN
FullNameHomeobox protein DLX-3
TaxID9606
Evidenceevidence at protein level
Length287
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesDLX3

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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001568 blood vessel development
GO:0001890 placenta development
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0030154 cell differentiation
GO:0030855 epithelial cell differentiation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0071895 odontoblast differentiation
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
IPR020479 Homeobox domain, metazoaDomainDomain
IPR022135 Distal-less-like homeobox protein, N-terminal domainDomainDomain

Diseases

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Disease IDSourceNameDescription
104510 OMIMAmelogenesis imperfecta 4 (AI4)An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. The disease is caused by variants affecting the gene represented in this entry.
190320 OMIMTrichodentoosseous syndrome (TDO)An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. The disease is caused by variants affecting the gene represented in this entry.