ReMap 2018 v1.2

An integrative ChIP-seq analysis of regulatory regions

RFX5

Function : regulatory factor X5
Description : A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]

Classification  

Super Class Helix-turn-helix domains
Class Fork head / winged helix factors
Family RFX-related factors
Sub Family None

External references

Ensembl ENSG00000143390
RefSeq NP_000440
Uniprot P48382
Aliases -
UCSC Gene coordinates chr1:151340639-151347318

External Links

JASPAR MA0510.2
Wikipedia RFX5
WikiGenes RFX5
Transcription Factor Encylopedia RFX5    
GeneCards RFX5
FactorBook RFX5


Genomic visualization & Analyses for MACS

Datasets
quality
DNA constraint
Motifs UCSC genome
browser

Downloading peaks and sequences for MACS

All peaks BED file
Merged peaks
(non-redundant peaks)
BED file
Peak sequences FASTA file

MACS - Datasets retained for RFX5

Genomic visualization & Analyses for JAMM

Datasets
quality
DNA constraint
Motifs UCSC genome
browser

Downloading peaks and sequences for JAMM

All peaks BED file
Merged peaks
(non-redundant peaks)
BED file
Peak sequences FASTA file

JAMM - Datasets retained for RFX5