Entity Details

Primary name COE3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H4W6
EntryNameCOE3_HUMAN
FullNameTranscription factor COE3
TaxID9606
Evidenceevidence at protein level
Length596
SequenceStatuscomplete
DateCreated2001-05-04
DateModified2021-06-02

Ontological Relatives

GenesEBF3

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:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0046983 protein dimerization activity

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR002909 IPT domainDomainDomain
IPR003523 Transcription factor COEFamilyFamily
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR014756 Immunoglobulin E-setFamilyHomologous superfamily
IPR018350 Transcription factor COE, conserved siteSiteConserved site
IPR032200 Transcription factor COE, DNA-binding domainDomainDomain
IPR032201 Transcription factor COE, helix-loop-helix domainDomainDomain
IPR036638 Helix-loop-helix DNA-binding domain superfamilyFamilyHomologous superfamily
IPR038006 Transcription factor COE, IPT domainDomainDomain
IPR038173 Transcription factor COE, DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617330 OMIMHypotonia, ataxia, and delayed development syndrome (HADDS)An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux. The disease is caused by variants affecting the gene represented in this entry.