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Symbol RFX1 contributors: SGE/npt - updated : 03-06-2010
HGNC name regulatory factor X, 1 (influences HLA class II expression)
HGNC id 9982
Corresponding disease
RFX1 immunodeficiency, severe combined
Location 19p13.12      Physical location : 14.072.342 - 14.117.134
Synonym name
  • enhancer factor C
  • trans-acting regulatory factor 1
  • MHC class II regulatory factor RFX
  • transcription factor RFX1
  • Synonym symbol(s) EFC, RFX
    TYPE functioning gene
    STRUCTURE 44.75 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - JUNB - LYL1 - RFX1 RFX1 - D19S52 - RAB8A - cen
    Authors Doyle (96)
    Physical map
    LYL1 19p13.2-p13.1 lymphoblastic leukemia derived sequence 1 FLJ20244 19p13.13 hypothetical protein FLJ20244 BTBD14B 19p13.13 BTB (POZ) domain containing 14B STX10 19p13.2 syntaxin 10 ETR101 LOC390891 19 similar to 60S RIBOSOMAL PROTEIN L12 CACNA1A 19p13.2-13.1 calcium channel, voltage-dependent, P/Q type, alpha 1A subunit MGC10471 19p13.13 hypothetical protein MGC10471 MGC3207 19p13.13 hypothetical protein MGC3207 HSPC023 19p13.13 HSPC023 protein ZSWIM4 19p13.13 zinc finger, SWIM domain containing 4 NANOS3 19p13.13 nanos homolog 3 (Drosophila) MGC11271 19p13.13 hypothetical protein MGC11271 FLJ20241 19p13.13 putative NFkB activating protein FLJ23447 19p13.13 hypothetical protein FLJ23447 LOC90379 19p13.13 hypothetical protein BC002926 RFX1 19p13.1 regulatory factor X, 1 (influences HLA class II expression) RLN3 19p13.2 relaxin 3 (H3) WSX1 LOC342979 19p13.13 hypothetical LOC342979 LOC126037 19p13.13 similar to eukaryotic translation elongation factor 1 delta isoform 1; guanine nucleotide exchange protein LOC113230 19p13.13 hypothetical protein LOC113230 PRKACA 19p13.1 protein kinase, cAMP-dependent, catalytic, alpha ASF1B 19p13.12 ASF1 anti-silencing function 1 homolog B (S. cerevisiae) LPHN1 19p13.2 latrophilin 1 CD97 19p13.2-p13.12 CD97 antigen DDX39 19p13.13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 PRKCL1 19p13.1-p12 protein kinase C-like 1 PTGER1 19p13.1 prostaglandin E receptor 1 (subtype EP1), 42kDa RGS19IP1 19p13.2-p13.1 regulator of G-protein signalling 19 interacting protein 1 DNAJB1 19p13.2 DnaJ (Hsp40) homolog, subfmaily B, member 1 GPSN2 19p13.12 glycoprotein, synaptic 2 NDUFB7 19p13.12-p13.11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa LOC388512 19 similar to Asialoglycoprotein receptor 2 (Hepatic lectin H2) (ASGP-R) (ASGPR) EMR3 19p13.1 egf-like module containing, mucin-like, hormone receptor-like 3 ZNF333 19p13 zinc finger protein 333 EMR2 19p13.1 egf-like module containing, mucin-like, hormone receptor-like sequence 2
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4392 - 979 - Reith (1994)
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     salivary gland   highly
    Lymphoid/Immunethymus   highly
     tonsils   highly
    Reproductivefemale systemplacenta   
     female systemuterus   
     male systemprostate   
     male systemtestis   
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    at STAGE
    physiological period pregnancy
    Text placenta
  • a DNA binding domain (DBD)
  • three alpha helices
  • three beta strands
  • three connecting loops
  • a dimerization domain
  • conjugated PhosphoP
    mono polymer homomer , dimer
    interspecies homolog to murine rfx1 (93.0pc)
    homolog to rattus Rfx1 (93.9pc)
  • winged-helix (hepatocyte nuclear factor (HNF)-3 forkhead) related subfamily of helix-turn-helix proteins
  • regulatory factor X gene family
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • transactivating DNA binding regulator 1, involved in MHC class II expression
  • may be important repressor of collagen gene transcription through a RFX binding site spanning the transcription start site
  • implicated in transcriptional downregulation of the proto-oncogene c-myc
  • mediates the immediate early response of the ID2 gene by serum stimulation and the function of RFX1 is regulated intramolecularly in its suppression in growth-arrested cells
  • transcription factor involved in the induction of gene expression of viruses such as human hepatitis B virus and cytomegalovirus and the suppression of cellular genes such as c-myc and the proliferating cell nuclear antigen
  • may negatively regulate the self-renewal of glioblastoma stem cells through modulating FGF1 expression level (Hsu 2010)
  • transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX2, RFX3 or RFX5
  • binding to the PNRC promoter region and negatively regulating the transcription of the PNRC gene (Zhang 2009)
  • plays a key CIITA-independent role in protecting MHCII promoters against DNA methylation (Seguin-EstÚvez 2009)
  • CELLULAR PROCESS nucleotide, transcription
    text activator
    pathway RFX1/HDAC1 implicated in methylation-mediated collagen silencing
    a component
  • binding to the MHC promoter box X
  • binding to the most upstream element of the RPL30 promoter
  • binding to 18 cis element of FGF1 promoter and thus down-regulating its mRNA expression (Hsu 2010)
  • can bind to an inverted repeat that is required for expression of hepatitis B virus gene
  • RNA
    small molecule
  • interaction with ADD1
  • interacts with HDAC1 and SIN3A
  • interacting with HDAC1 (HDAC1 enhances inhibition of collagen promoter activity by RFX1)
  • interacting with RFX2, and ALMS1 (activate ALMS1 transcription during serum starvation-induced growth arrest, most likely as part of the ciliogenic program) (Purvis 2010)
  • cell & other
    corresponding disease(s) RFX1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    silenced in gliomas
    Variant & Polymorphism
    Candidate gene
    Therapy target