RFX5
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2KW3, 3V30
Identifiers
Aliases	RFX5, regulatory factor X5
External IDs	OMIM: 601863 HomoloGene: 388 GeneCards: RFX5
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.3 Start 151,340,640 bp[1] End 151,347,357 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lymph node monocyte appendix rectum thymus spleen pons smooth muscle tissue gallbladder palpebral conjunctiva n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding protein binding DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5993 n/a Ensembl ENSG00000143390 n/a UniProt P48382 n/a RefSeq (mRNA) NM_000449 NM_001025603 n/a RefSeq (protein) NP_000440 NP_001020774 NP_001366341 NP_001366342 NP_001366343 NP_001366344 NP_001366345 NP_001366346 NP_001366347 NP_001366348 NP_001366349 n/a Location (UCSC) Chr 1: 151.34 – 151.35 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.^[3][4]

Function

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 Xbox 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.^[4]

Interactions

RFX5 has been shown to interact with CIITA.^[5][6]