Property Summary

NCBI Gene PubMed Count 19
Grant Count 76
R01 Count 36
Funding $20,051,262.79
PubMed Score 663.32
PubTator Score 26.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
glioblastoma multiforme 1.100 0.000
ovarian cancer 1.200 0.000

Synonym

Accession O14593 O95839 Q24JQ1 Q6FGA8
Symbols BLS
RFX-B
ANKRA1
F14150_1

Gene

PANTHER Protein Class (1)

PDB

3V30   3UXG   4QQM  

Gene RIF (8)

PMID Text
26634365 mutation results in Bare Lymphocyte Syndrome, Type 2 in a child of Mexican descent
21908431 genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1)
20414676 Findings confirm the association between the high frequency of the combined immunodeficiency and the defect in MHC class II expression and provides strong evidence for a founder effect of the 752delG26 mutation in the North African population.
18723135 RFXAP and RFXB have roles in relieving autoinhibition of RFX5
16166641 analysis of RFXANK domains and function
15964851 ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression
12618906 in vivo effects of mutations on the expression of the RFXANK RNA and protein
11836625 Low levels of RFX-B are found in macrophages of colorectal cancer patients, partly explaining immunodeficiency in cancer.

AA Sequence

MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSSPQAGSSLKHS      1 - 70
TTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKPDERGFTPLIWASAFGEIETV     71 - 140
RFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALL    141 - 210
ARGADLTTEADSGYTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE                        211 - 260
//

Text Mined References (22)

PMID Year Title
26634365 2016 Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent.
22649097 2012 Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.
21908431 2011 Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
20732328 2010 Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.
20414676 2010 The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.
18723135 2008 Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16166641 2005 New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.
15964851 2005 Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
More...