Version 5.4
Homo sapiens Protein: RFX5
Summary
InnateDB Protein IDBP-102362.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFX5
Protein Name regulatory factor X, 5 (influences HLA class II expression)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000357864
InnateDB Gene IDBG-102358 (RFX5)
Protein Structure
UniProt Annotation
Function Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.
Subcellular Localization Nucleus.
Disease Associations Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: 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. {ECO:0000269PubMed:10825209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
Experimentally validated
Total 29 [view]
Protein-Protein 21 [view]
Protein-DNA 8 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR003150 DNA-binding RFX-type winged-helix domain
PFAM PF02257
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P48382
PhosphoSite PhosphoSite-P48382
TrEMBL Q9UG77
UniProt Splice Variant
Entrez Gene 5993
UniGene Hs.715129
RefSeq
HUGO HGNC:9986
OMIM 601863
CCDS CCDS994
HPRD 03517
IMGT
EMBL AL050135 AL391069 BC017471 CH471121 X85786
GenPept AAH17471 CAA59771 CAB43285 CAH70327 EAW53446 EAW53447 EAW53448

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca