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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000449 11 - 3618 NP_000440 - 616 - 2005 15655668 NM_001025603 11 - 3611 NP_001020774 - 616 - 2005 15655668

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine       Lymphoid/Immune lymph node       highly   thymus       highly Reproductive female system uterus cervix   highly Respiratory respiratory tract trachea     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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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