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FLASH GENE
Symbol RFX5 contributors: mct/npt - updated : 03-01-2012
HGNC name regulatory factor X, 5 (influences HLA class II expression)
HGNC id 9986
Corresponding disease
BLS2C Bare lymphocyte syndrome type II
Location 1q21.3      Physical location : 151.313.115 - 151.319.769
Synonym name regulatory factor X, 5
DNA
TYPE functioning gene
STRUCTURE 6.65 kb     11 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence HSs hypertensive site
motif
MAPPING cloned Y linked N status confirmed
Physical map
HCP1 1q21.3 cytochrome c, somatic pseudogene SETDB1 1q21 SET domain, bifurcated 1 LASS2 1q11 LAG1 longevity assurance homolog 2 (S. cerevisiae) ANXA9 1q21 annexin A9 FLJ11280 1q21.3 hypothetical protein FLJ11280 BNIPL 1q21.2 BCL2/adenovirus E1B 19kD interacting protein like HTCD37 1q21 TcD37 homolog FLJ20519 1q21.3 hypothetical protein FLJ20519 SPEC1 1q21.2 hypothetical protein FLJ20519 AF1Q 1q21 hypothetical protein FLJ20519 MGC29891 1q21.3 hypothetical protein MGC29891 SEMA6C 1q21.2 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C FLJ23467 1q21.3 hypothetical protein FLJ23467 LOC388695 1 similar to hypothetical protein SB145 SCNM1 1q21.3 sodium channel modifier 1 TMOD4 1q12 tropomodulin 4 (muscle) TCFL1 1q21 transcription factor-like 1 PIP5K1A 1q22-q24 phosphatidylinositol-4-phosphate 5-kinase, type I, alpha PSMD4 1q21.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 KIAA1441 1q21.3 KIAA1441 protein PIK4CB 1q21 phosphatidylinositol 4-kinase, catalytic, beta polypeptide RFX5 1q21 regulatory factor X, 5 (influences HLA class II expression) SELENBP1 1q21-q22 selenium binding protein 1 PSMB4 1q21 proteasome (prosome, macropain) subunit, beta type, 4 POGZ 1q21.1 pogo transposable element with ZNF domain CGN 1q21 cingulin TUFT1 1q21-q23 tuftelin 1 SNX27 1q21.3 sorting nexin family member 27 TNRC4 1q21 trinucleotide repeat containing 4 FLJ36032 1q21.3 hypothetical protein FLJ36032 MRPL9 1q21 mitochondrial ribosomal protein L9
RNA
TRANSCRIPTS type messenger
text variants 1 and 2 encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3618 - 616 - 2005 15655668
11 - 3611 - 616 - 2005 15655668
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
Lymphoid/Immunelymph node   highly
 thymus   highly
Reproductivefemale systemuteruscervix highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a specific DNA-binding domain, and RFX complex binds to X-box DNA, using this DNA binding domain
  • a dimerization domain
  • an oligomerization domain, promoting formation of a dimer of dimers of RFX5
  • HOMOLOGY
    interspecies homolog to murine Rfx5
    Homologene
    FAMILY
  • RFX family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • two RFX5 molecules and one RFXAP molecule assemble in the cytoplasm prior to nuclear localization, a process mediated by an N-terminal "dimerization domain" of RFX5 (RFX5(N)) and a C-terminal domain of RFXAP (RFXAP(C)
  • basic FUNCTION
  • transactivating DNA binding regulatory factor 5l, involved in MHC class II expression
  • important repressors of collagen gene transcription through a RFX binding site spanning the transcription start site
  • subunit of RFX complex involved in transcription regulation of MHCII molecules
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    pathway RFX5/HDAC2 implicated in interferon-gamma-mediated repression
    a component
  • subunit of the multimeric phosphoprotein complex RFX, containing RFX5, RFXANK, RFXAP
  • dimerizes through two separate domains
  • forms the heterotrimeric RFX complex together with RFX5 and RFXAP, all are required for expression of MHCII genes
  • INTERACTION
    DNA binding to the MHC promoter box X
    RNA
    small molecule
    protein
  • HDAC2 cooperates with RFX5 to down-regulate collagen promoter activity
  • specifically interacts with histone deacetylase 2 (HDAC2) and the mammalian transcriptional repressor SIN3B
  • interaction between RFX5 and RFXAP promote folding of a poorly structured region of RFXAP, which is required for high affinity binding of RFXB to the RFX5/RFXAP complex
  • cell & other
    REGULATION
    Other DNA binding of RFX5 is inhibited by domains flanking its DNA binding domain, and both RFXAP and RFXB are required to overcome the inhibition of both domains
    ASSOCIATED DISORDERS
    corresponding disease(s) BLS2C
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    RFX5(L66A) point mutation prevents dimerization of the RFX complexes and may result a loss of MHCII gene expression
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS