DNA-binding protein RFXANK; regulatory factor X subunit B; RFX-B; regulatory factor X-associated ankyrin-containing protein; ankyrin repeat family A protein 1 (RFXANK, ANKRA1, RFXB)

Function

• component of regulatory factor X (RFX)
• activates transcription from class II MHC promoters
• activation requires the activity of the MHC class II transactivator (MHC2TA)
• may regulate other genes in the cell
• isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes

Structure

• the 3rd ankyrin repeat is required for association with the 2 other RFX subunits; RFX5 & RFXAP
• contains 5 ANK repeats

Compartment

nucleus

Alternative splicing

named isoforms=2

Expression

ubiquitous

Pathology

• defects in RFXANK are a cause of bare lymphocyte syndrome 2

More general terms

• protein subunit
• DNA-binding protein
• ankyrin repeat domain protein (ANKRD)

Component of

• regulatory factor X (RFX)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8625
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8625
• OMIM: https://mirror.omim.org/entry/209920
• OMIM: https://mirror.omim.org/entry/603200
• UniProt: http://www.uniprot.org/uniprot/O14593.html