Entity Details

Primary name RFX5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48382
EntryNameRFX5_HUMAN
FullNameDNA-binding protein RFX5
TaxID9606
Evidenceevidence at protein level
Length616
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesRFX5

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0006357 regulation of transcription by RNA polymerase II
GO:0043565 sequence-specific DNA binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0090575 RNA polymerase II transcription regulator complex
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR003150 DNA-binding RFX-type winged-helix domainDomainDomain
IPR029298 RFX5, C-terminalDomainDomain
IPR033486 DNA-binding protein RFX5FamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily
IPR039779 RFX-like DNA-binding proteinFamilyFamily
IPR040889 RFX5, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
209920 OMIMBare lymphocyte syndrome 2 (BLS2)A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. The disease is caused by variants affecting the gene represented in this entry.