Version 5.4
Mus musculus Gene: Rfx5
Summary
InnateDB Gene IDBG-171037.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Rfx5
Gene Name regulatory factor X, 5 (influences HLA class II expression)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000005774
Encoded Proteins
IDBP-171041
regulatory factor X, 5 (influences HLA class II expression)
IDBP-267059
regulatory factor X, 5 (influences HLA class II expression)
IDBP-267061
regulatory factor X, 5 (influences HLA class II expression)
IDBP-267063
regulatory factor X, 5 (influences HLA class II expression)
IDBP-267065
regulatory factor X, 5 (influences HLA class II expression)
IDBP-539065
regulatory factor X, 5 (influences HLA class II expression)
IDBP-534950
regulatory factor X, 5 (influences HLA class II expression)
IDBP-538576
regulatory factor X, 5 (influences HLA class II expression)
IDBP-532393
regulatory factor X, 5 (influences HLA class II expression)
IDBP-537760
regulatory factor X, 5 (influences HLA class II expression)
IDBP-534933
regulatory factor X, 5 (influences HLA class II expression)
IDBP-537637
regulatory factor X, 5 (influences HLA class II expression)
IDBP-536509
regulatory factor X, 5 (influences HLA class II expression)
IDBP-542170
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 3:94954075-94961561
Strand Forward strand
Band F2.1
Transcripts
ENSMUST00000029772 ENSMUSP00000029772
ENSMUST00000107260 ENSMUSP00000102881
ENSMUST00000107255 ENSMUSP00000102876
ENSMUST00000107254 ENSMUSP00000102875
ENSMUST00000107253 ENSMUSP00000102874
ENSMUST00000137088 ENSMUSP00000117963
ENSMUST00000142311 ENSMUSP00000119704
ENSMUST00000152869 ENSMUSP00000121157
ENSMUST00000144132 ENSMUSP00000114908
ENSMUST00000140331 ENSMUSP00000118014
ENSMUST00000140294
ENSMUST00000145472 ENSMUSP00000116675
ENSMUST00000148803
ENSMUST00000147237 ENSMUSP00000118586
ENSMUST00000132393 ENSMUSP00000117999
ENSMUST00000145031 ENSMUSP00000118099
ENSMUST00000142708
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 18 interaction(s) predicted by orthology.
Predicted by orthology
Total 18 [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:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000143390
View Gene Order
ENSBTAG00000017580
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04612
Antigen processing and presentation pathway
mmu05340
Primary immunodeficiency pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04612
Antigen processing and presentation pathway
hsa05340
Primary immunodeficiency pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.24308
RefSeq NM_017395 XM_006501693 XM_006501694 XM_006501695 XM_006501696 XM_006501697 XM_006501698 XM_006501699 XM_006501700
OMIM
CCDS CCDS17598
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

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