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Regulatory factor X, 5 (influences HLA class II expression) (HGNC Symbol)
Entrez gene summary
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
A0A0A0MSQ2 [Direct mapping] DNA-binding protein RFX5
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Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
A0A0A0MSM9 [Direct mapping] DNA-binding protein RFX5
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Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
A0A0A0MT34 [Direct mapping] DNA-binding protein RFX5
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Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006357 [regulation of transcription from RNA polymerase II promoter]
