Entity Details

Primary name PRDM5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NQX1
EntryNamePRDM5_HUMAN
FullNamePR domain zinc finger protein 5
TaxID9606
Evidenceevidence at protein level
Length630
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesPRDM5

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000278 mitotic cell cycle
GO:0000976 transcription cis-regulatory region binding
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
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:0005730 nucleolus
GO:0008168 methyltransferase activity
GO:0010468 regulation of gene expression
GO:0016575 histone deacetylation
GO:0016604 nuclear body
GO:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0051567 histone H3-K9 methylation
GO:1990830 cellular response to leukemia inhibitory factor

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001214 SET domainDomainDomain
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR017125 PR-domain zinc finger protein PRDM5-likeFamilyFamily
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily
IPR044415 PRDM5, PR/SET domainDomainDomain

Diseases

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Disease IDSourceNameDescription
614170 OMIMBrittle cornea syndrome 2 (BCS2)A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. The disease is caused by variants affecting the gene represented in this entry.