Entity Details

Primary name BPTF_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12830
EntryNameBPTF_HUMAN
FullNameNucleosome-remodeling factor subunit BPTF
TaxID9606
Evidenceevidence at protein level
Length3046
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesBPTF

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:0001892 embryonic placenta development
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006338 chromatin remodeling
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007420 brain development
GO:0007492 endoderm development
GO:0008134 transcription factor binding
GO:0009611 response to wounding
GO:0009952 anterior/posterior pattern specification
GO:0016589 NURF complex
GO:0030425 dendrite
GO:0035064 methylated histone binding
GO:0042766 nucleosome mobilization
GO:0043565 sequence-specific DNA binding
GO:0044297 cell body
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:1990090 cellular response to nerve growth factor stimulus

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001487 BromodomainDomainDomain
IPR001965 Zinc finger, PHD-typeDomainDomain
IPR011011 Zinc finger, FYVE/PHD-typeFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR018359 Bromodomain, conserved siteSiteConserved site
IPR018501 DDT domainDomainDomain
IPR019786 Zinc finger, PHD-type, conserved siteSiteConserved site
IPR019787 Zinc finger, PHD-fingerDomainDomain
IPR028941 WHIM2 domainDomainDomain
IPR036427 Bromodomain-like superfamilyFamilyHomologous superfamily
IPR038028 Nucleosome-remodeling factor subunit BPTFFamilyFamily

Diseases

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Disease IDSourceNameDescription
617755 OMIMNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL)An autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet. The disease is caused by variants affecting the gene represented in this entry.