Version 5.4
Homo sapiens Gene: RFXANK
Summary
InnateDB Gene IDBG-39533.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RFXANK
Gene Name regulatory factor X-associated ankyrin-containing protein
Synonyms ANKRA1; BLS; F14150_1; RFX-B
Species Homo sapiens
Ensembl Gene ENSG00000064490
Encoded Proteins
IDBP-39535
regulatory factor X-associated ankyrin-containing protein
IDBP-245888
regulatory factor X-associated ankyrin-containing protein
IDBP-295493
regulatory factor X-associated ankyrin-containing protein
IDBP-376455
regulatory factor X-associated ankyrin-containing protein
IDBP-376490
regulatory factor X-associated ankyrin-containing protein
IDBP-594317
regulatory factor X-associated ankyrin-containing protein
IDBP-585891
regulatory factor X-associated ankyrin-containing protein
IDBP-600073
regulatory factor X-associated ankyrin-containing protein
IDBP-589551
regulatory factor X-associated ankyrin-containing protein
IDBP-760122
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 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. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. [provided by RefSeq, Jul 2008]
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 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. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:19192229-19201869
Strand Forward strand
Band p13.11
Transcripts
ENST00000303088 ENSP00000305071
ENST00000392324 ENSP00000376138
ENST00000407360 ENSP00000384572
ENST00000421262 ENSP00000393159
ENST00000456252 ENSP00000409138
ENST00000540981 ENSP00000440325
ENST00000543157
ENST00000541873
ENST00000545522
ENST00000535017 ENSP00000444280
ENST00000543118
ENST00000540977
ENST00000544923 ENSP00000441042
ENST00000536253 ENSP00000440321
ENST00000593273 ENSP00000466913
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 24 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003712 transcription cofactor activity
GO:0005515 protein binding
GO:0042826 histone deacetylase binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0007265 Ras protein signal transduction
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0045171 intercellular bridge
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000036120
View Gene Order
ENSBTAG00000001762
Not yet available
Pathways
NETPATH
NetPath_4
EGFR1 pathway
REACTOME
KEGG
hsa04612
Antigen processing and presentation pathway
hsa05340
Primary immunodeficiency pathway
INOH
PID NCI
hdac_classii_pathway
Signaling events mediated by HDAC Class II
Cross-References
SwissProt
TrEMBL H0YFZ0
UniProt Splice Variant
Entrez Gene 8625
UniGene
RefSeq NM_001278727 NM_001278728 NM_003721 NM_134440 XM_005260134 XM_005260135 XM_005260136 XM_005260137 XM_006722930
HUGO HGNC:9987
OMIM 603200
CCDS CCDS12395 CCDS12396 CCDS62611
HPRD 04435
IMGT
EMBL AC002126 AC003110
GenPept
RNA Seq Atlas 8625

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