Entity Details

Primary name DLX5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP56178
EntryNameDLX5_HUMAN
FullNameHomeobox protein DLX-5
TaxID9606
Evidenceevidence at protein level
Length289
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesDLX5

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
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:0001501 skeletal system development
GO:0001649 osteoblast differentiation
GO:0001958 endochondral ossification
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007399 nervous system development
GO:0008283 cell population proliferation
GO:0010628 positive regulation of gene expression
GO:0021889 olfactory bulb interneuron differentiation
GO:0030154 cell differentiation
GO:0030326 embryonic limb morphogenesis
GO:0030509 BMP signaling pathway
GO:0030855 epithelial cell differentiation
GO:0042472 inner ear morphogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0050679 positive regulation of epithelial cell proliferation
GO:0060021 roof of mouth development
GO:0060166 olfactory pit development
GO:0060325 face morphogenesis
GO:0071773 cellular response to BMP stimulus
GO:0071837 HMG box domain binding
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0097376 interneuron axon guidance
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
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
220600 OMIMSplit-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D)A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. The disease is caused by variants affecting the gene represented in this entry.