Version 5.4
Bos taurus Gene: RFX5
Summary
InnateDB Gene IDBG-633118.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFX5
Gene Name DNA-binding protein RFX5
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000017580
Encoded Proteins
IDBP-684812
regulatory factor X, 5 (influences HLA class II expression)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000143390:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:19505669-19510571
Strand Forward strand
Band
Transcripts
ENSBTAT00000023377 ENSBTAP00000023377
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000143390
View Gene Order
ENSMUSG00000005774
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04612
Antigen processing and presentation pathway
hsa05340
Primary immunodeficiency pathway
mmu04612
Antigen processing and presentation pathway
mmu05340
Primary immunodeficiency pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E1BGG6
UniProt Splice Variant
Entrez Gene 539884
UniGene Bt.61172
RefSeq NM_001205726 XM_005203928 XM_005203929
HUGO HGNC:9986
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02007251
GenPept
RNA Seq Atlas 539884

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