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Aliases for RFX1 Gene

Aliases for RFX1 Gene

  • Regulatory Factor X1 2 3 5
  • Enhancer Factor C 2 3 4
  • Regulatory Factor X, 1 (Influences HLA Class II Expression) 2 3
  • MHC Class II Regulatory Factor RFX 2 3
  • Trans-Acting Regulatory Factor 1 2 3
  • Transcription Factor RFX1 3 4
  • RFX 3 4
  • MHC Class II Regulatory Factor RFX1 3
  • Regulatory Factor X 1 4
  • EF-C 4
  • EFC 3

External Ids for RFX1 Gene

Previous GeneCards Identifiers for RFX1 Gene

  • GC19M014429
  • GC19M013917
  • GC19M014072
  • GC19M013643

Summaries for RFX1 Gene

Entrez Gene Summary for RFX1 Gene

  • This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]

GeneCards Summary for RFX1 Gene

RFX1 (Regulatory Factor X1) is a Protein Coding gene. Diseases associated with RFX1 include Bare Lymphocyte Syndrome, Type Ii, Complementation Group C and Combined T Cell And B Cell Immunodeficiency. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is RFX3.

UniProtKB/Swiss-Prot for RFX1 Gene

  • Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter.

Gene Wiki entry for RFX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFX1 Gene

Genomics for RFX1 Gene

Regulatory Elements for RFX1 Gene

Enhancers for RFX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G013833 1.8 FANTOM5 ENCODE dbSUPER 25.7 +162.9 162942 23.1 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 CCDC130 TRMT1 RFX1 DCAF15 MRI1 ZNF333 LOC284454 ZSWIM4 C19orf53 RPS6P25
GH19G013005 1.7 Ensembl ENCODE dbSUPER 20.5 +999.9 999900 3.8 CREB3L1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 CCDC130 ZNF136 ZNF791 ZNF44 ZNF564 WDR83OS TRMT1 RFX1 C19orf43 ZNF442
GH19G013115 1.8 FANTOM5 ENCODE dbSUPER 19.1 +888.6 888579 7.7 CREB3L1 DMAP1 YBX1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D ZNF610 CCDC130 WDR83OS ZNF791 ZNF564 ZNF44 ZNF136 MRI1 TRMT1 ZNF799 RFX1
GH19G014000 1.8 FANTOM5 ENCODE dbSUPER 13.9 +3.4 3415 7.0 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 CCDC130 TRMT1 LOC284454 RFX1 DCAF15 MRI1 ZNF333 ZSWIM4 TECR PKN1
GH19G013160 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11 +840.2 840219 13.8 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC CCDC130 ZNF44 ZNF799 ZNF791 WDR83OS ZNF564 TRMT1 C19orf43 ZNF709 ZNF442
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RFX1 on UCSC Golden Path with GeneCards custom track

Promoters for RFX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107471 1014 2200 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D

Genomic Location for RFX1 Gene

Chromosome:
19
Start:
13,961,530 bp from pter
End:
14,007,514 bp from pter
Size:
45,985 bases
Orientation:
Minus strand

Genomic View for RFX1 Gene

Genes around RFX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RFX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RFX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RFX1 Gene

Proteins for RFX1 Gene

  • Protein details for RFX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22670-RFX1_HUMAN
    Recommended name:
    MHC class II regulatory factor RFX1
    Protein Accession:
    P22670

    Protein attributes for RFX1 Gene

    Size:
    979 amino acids
    Molecular mass:
    104758 Da
    Quaternary structure:
    • Homodimer; binds DNA as a homodimer (PubMed:10706293). Heterodimer; heterodimerizes with RFX2 and RFX3 (PubMed:10330134).

    Three dimensional structures from OCA and Proteopedia for RFX1 Gene

neXtProt entry for RFX1 Gene

Post-translational modifications for RFX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFX1 Gene

No data available for DME Specific Peptides for RFX1 Gene

Domains & Families for RFX1 Gene

Gene Families for RFX1 Gene

Suggested Antigen Peptide Sequences for RFX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22670

UniProtKB/Swiss-Prot:

RFX1_HUMAN :
  • Belongs to the RFX family.
Family:
  • Belongs to the RFX family.
genes like me logo Genes that share domains with RFX1: view

Function for RFX1 Gene

Molecular function for RFX1 Gene

GENATLAS Biochemistry:
transactivating DNA binding regulator 1,involved in MHC class II expression,binding the MHC promoter box X
UniProtKB/Swiss-Prot Function:
Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter.

Gene Ontology (GO) - Molecular Function for RFX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding TAS 8289803
GO:0005515 protein binding IPI 16289097
genes like me logo Genes that share ontologies with RFX1: view
genes like me logo Genes that share phenotypes with RFX1: view

Animal Model Products

CRISPR Products

Transcription Factor Targets for RFX1 Gene

Selected GeneGlobe predicted Target genes for RFX1
Targeted motifs for RFX1 Gene
HOMER Transcription Factor Regulatory Elements motif RFX1
  • Consensus sequence: GGTTGCCATGGCAA Submotif: canonical Cell Type: NPC GEO ID: GSE16256

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Animal Models for RFX1 Gene

Localization for RFX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RFX1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RFX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RFX1: view

Pathways & Interactions for RFX1 Gene

No Data Available

SIGNOR curated interactions for RFX1 Gene

Activates:

Gene Ontology (GO) - Biological Process for RFX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006955 immune response TAS 1505960
genes like me logo Genes that share ontologies with RFX1: view

No data available for Pathways by source for RFX1 Gene

Drugs & Compounds for RFX1 Gene

(1) Additional Compounds for RFX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RFX1: view

Transcripts for RFX1 Gene

Unigene Clusters for RFX1 Gene

Regulatory factor X, 1 (influences HLA class II expression):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RFX1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11
SP1:
SP2: -
SP3: - - -
SP4:

Relevant External Links for RFX1 Gene

GeneLoc Exon Structure for
RFX1
ECgene alternative splicing isoforms for
RFX1

Expression for RFX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RFX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RFX1 Gene

This gene is overexpressed in CD8 Tcells (11.6), Blymphocyte (8.2), and Placenta (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RFX1 Gene



Protein tissue co-expression partners for RFX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RFX1 Gene:

RFX1

SOURCE GeneReport for Unigene cluster for RFX1 Gene:

Hs.655215

Evidence on tissue expression from TISSUES for RFX1 Gene

  • Liver(4.4)
  • Blood(2.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with RFX1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RFX1 Gene

Orthologs for RFX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RFX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RFX1 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia RFX1 34 35
  • 91.09 (n)
oppossum
(Monodelphis domestica)
Mammalia RFX1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfx1 34 16 35
  • 87.66 (n)
rat
(Rattus norvegicus)
Mammalia Rfx1 34
  • 87.13 (n)
cow
(Bos Taurus)
Mammalia RFX1 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFX1 35
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFX1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfx1 34
  • 73.93 (n)
zebrafish
(Danio rerio)
Actinopterygii rfx1a 34 35
  • 70.45 (n)
rfx1b 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rfx 36 35
  • 53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
Species where no ortholog for RFX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RFX1 Gene

ENSEMBL:
Gene Tree for RFX1 (if available)
TreeFam:
Gene Tree for RFX1 (if available)

Paralogs for RFX1 Gene

Paralogs for RFX1 Gene

(2) SIMAP similar genes for RFX1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RFX1: view

Variants for RFX1 Gene

Sequence variations from dbSNP and Humsavar for RFX1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs766888168 Benign 13,963,151(+) CTCGC(C/T)CTTGG reference, missense
rs1000005785 -- 13,983,709(+) TCAGG(C/T)CCCTC intron-variant
rs1000032415 -- 14,003,291(+) CCCGG(-/C)CAGGA intron-variant
rs1000174432 -- 13,988,592(+) TGTGC(C/T)AGGTG intron-variant
rs1000199008 -- 13,992,824(+) TTTGC(-/AA)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RFX1 Gene

Variant ID Type Subtype PubMed ID
nsv1134755 CNV deletion 24896259
nsv820186 CNV loss 19587683
nsv828451 CNV loss 20364138
nsv833761 CNV loss 17160897
nsv953979 CNV deletion 24416366

Variation tolerance for RFX1 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RFX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RFX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RFX1 Gene

Disorders for RFX1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RFX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type ii, complementation group c
  • bare lymphocyte syndrome, type ii, complementation group e
combined t cell and b cell immunodeficiency
  • combined immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search RFX1 in MalaCards View complete list of genes associated with diseases

Genatlas disease for RFX1 Gene

immunodeficiency,severe combined with defective expression of MHC class II gene

Relevant External Links for RFX1

Human Genome Epidemiology (HuGE) Navigator
RFX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RFX1
genes like me logo Genes that share disorders with RFX1: view

No data available for UniProtKB/Swiss-Prot for RFX1 Gene

Publications for RFX1 Gene

  1. Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding. (PMID: 10706293) Gajiwala K.S. … Burley S.K. (Nature 2000) 3 4 22 64
  2. RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. (PMID: 8289803) Reith W. … Mach B. (Mol. Cell. Biol. 1994) 2 3 22 64
  3. The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19. (PMID: 1505960) Pugliatti L. … Mach B. (Genomics 1992) 2 3 22 64
  4. The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters. (PMID: 1508204) Sanchez-Herrero C. … Mach B. (Mol. Cell. Biol. 1992) 3 4 22 64
  5. MHC class II regulatory factor RFX has a novel DNA-binding domain and a functionally independent dimerization domain. (PMID: 2253877) Reith W. … Mach B. (Genes Dev. 1990) 3 4 22 64

Products for RFX1 Gene

Sources for RFX1 Gene

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