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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
General
ankyrin repeat domain protein (ANKRD)
DNA-binding protein
protein subunit
Properties
SIZE: entity length = 260 aa
MW = 28 kD
COMPARTMENT: cell nucleus
MOTIF: ankyrin repeat
NAME: ankyrin repeat
SITE: 89-118
ankyrin repeat
NAME: ankyrin repeat
SITE: 123-152
ankyrin repeat
NAME: ankyrin repeat
SITE: 156-185
ankyrin repeat
NAME: ankyrin repeat
SITE: 189-218
ankyrin repeat
NAME: ankyrin repeat
SITE: 222-251
Database Correlations
OMIM correlations
MORBIDMAP 603200
UniProt O14593
Pfam PF00023
Entrez Gene 8625
Kegg hsa:8625
References
- UniProt :accession O14593
- RFXANKbase; Note: RFXANK mutation db
http://bioinf.uta.fi/RFXANKbase/
Component-of
regulatory factor X (RFX)