Version 5.4
Homo sapiens Gene: RFXAP
Summary
InnateDB Gene IDBG-24576.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFXAP
Gene Name regulatory factor X-associated protein
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000133111
Encoded Proteins
IDBP-24578
regulatory factor X-associated protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:36819224-36829104
Strand Forward strand
Band q13.3
Transcripts
ENST00000255476 ENSP00000255476
ENST00000472888
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 8 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003713 transcription coactivator activity
Biological Process
GO:0045893 positive regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000036615
View Gene Order
ENSBTAG00000005351
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04612
Antigen processing and presentation pathway
hsa05340
Primary immunodeficiency pathway
INOH
PID NCI
Cross-References
SwissProt O00287
TrEMBL
UniProt Splice Variant
Entrez Gene 5994
UniGene Hs.24422
RefSeq NM_000538
HUGO HGNC:9988
OMIM 601861
CCDS CCDS9359
HPRD
IMGT
EMBL AK313912 AL159973 BC026088 CH471075 Y12812
GenPept AAH26088 BAG36635 CAA73338 CAH71159 EAX08575
RNA Seq Atlas 5994

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