Entity Details

Primary name DLX4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92988
EntryNameDLX4_HUMAN
FullNameHomeobox protein DLX-4
TaxID9606
Evidenceevidence at protein level
Length240
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesDLX4

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
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:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0043565 sequence-specific DNA binding
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

Diseases

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Disease IDSourceNameDescription
616788 OMIMNon-syndromic orofacial cleft 15 (OFC15)A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.