Entity Details

Primary name BRPF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP55201
EntryNameBRPF1_HUMAN
FullNamePeregrin
TaxID9606
Evidenceevidence at protein level
Length1214
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesBRPF1

GO terms

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GOName
GO:0005694 chromosome
GO:0070776 MOZ/MORF histone acetyltransferase complex
GO:0005634 nucleus
GO:1901796 regulation of signal transduction by p53 class mediator
GO:0010698 acetyltransferase activator activity
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0043966 histone H3 acetylation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0000123 histone acetyltransferase complex
GO:0042393 histone binding
GO:0043972 histone H3-K23 acetylation
GO:0046872 metal ion binding
GO:0003677 DNA binding
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0044154 histone H3-K14 acetylation

Subcellular Location

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Subcellular Location
Chromosome
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR000313 PWWP domainDomainDomain
IPR001487 BromodomainDomainDomain
IPR001965 Zinc finger, PHD-typeDomainDomain
IPR011011 Zinc finger, FYVE/PHD-typeFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR018359 Bromodomain, conserved siteSiteConserved site
IPR019542 Enhancer of polycomb-like, N-terminalDomainDomain
IPR019786 Zinc finger, PHD-type, conserved siteSiteConserved site
IPR019787 Zinc finger, PHD-fingerDomainDomain
IPR034732 Extended PHD (ePHD) domainDomainDomain
IPR035502 BR140-related, PWWD domainDomainDomain
IPR036427 Bromodomain-like superfamilyFamilyHomologous superfamily
IPR042008 BRPF1, PHD domainDomainDomain
IPR042061 Peregrin, ePHD domainDomainDomain

Diseases

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Disease IDSourceNameDescription
617333 OMIMIntellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP)An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures. The disease is caused by variants affecting the gene represented in this entry.