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Aliases for RFX1 Gene

Aliases for RFX1 Gene

  • Regulatory Factor X, 1 (Influences HLA Class II Expression) 2 3
  • Enhancer Factor C 2 3 4
  • MHC Class II Regulatory Factor RFX 2 3
  • Trans-Acting Regulatory Factor 1 2 3
  • Transcription Factor RFX1 3 4
  • Regulatory Factor X 1 3 4
  • RFX 3 4
  • MHC Class II Regulatory Factor RFX1 3
  • 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 is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the X-boxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for RFX1 Gene

RFX1 (Regulatory Factor X, 1 (Influences HLA Class II Expression)) is a Protein Coding gene. Diseases associated with RFX1 include mhc class ii deficiency and hepatitis b. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RFX1 Gene

Genomics for RFX1 Gene

Regulatory Elements for RFX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RFX1 Gene

Start:
13,961,530 bp from pter
End:
14,007,083 bp from pter
Size:
45,554 bases
Orientation:
Minus strand

Genomic View for RFX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    Protein attributes for RFX1 Gene

    Size:
    979 amino acids
    Molecular mass:
    104758 Da
    Quaternary structure:
    • Binds DNA as a homodimer.

    Three dimensional structures from OCA and Proteopedia for RFX1 Gene

neXtProt entry for RFX1 Gene

Proteomics data for RFX1 Gene at MOPED

Post-translational modifications for RFX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RFX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RFX1 Gene

Domains for RFX1 Gene

Protein Domains 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 :
  • P22670
Domain:
  • Contains 1 RFX-type winged-helix DNA-binding domain.
Family:
  • Belongs to the RFX family.
genes like me logo Genes that share domains with RFX1: view

No data available for Gene Families for RFX1 Gene

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 --
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS 8289803
GO:0005515 protein binding IPI 16289097
genes like me logo Genes that share ontologies with RFX1: view

Phenotypes for RFX1 Gene

MGI mutant phenotypes for RFX1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with RFX1: view

Animal Model Products

miRNA for RFX1 Gene

miRTarBase miRNAs that target RFX1
Targeting motifs for RFX1 Gene
HOMER Transcription Factor Regulatory Elements motif RFX1
  • Consensus sequence: GGTTGCCATGGCAA Submotif: canonical Cell Type: NPC GeoId: GSE16256

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RFX1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models and Transcription Factor Targeting for RFX1 Gene

Localization for RFX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RFX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RFX1 Gene COMPARTMENTS Subcellular localization image for RFX1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 2
extracellular 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 for RFX1 Gene

SuperPathways for RFX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RFX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 8289803
GO:0006366 transcription from RNA polymerase II promoter TAS 8289803
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

Compounds for RFX1 Gene

(1) Novoseek inferred chemical compound relationships for RFX1 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 9.54 4
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RFX1

Primer Products

Flow Cytometry 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 for RFX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for RFX1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RFX1 Gene

SOURCE GeneReport for Unigene cluster for RFX1 Gene Hs.655215

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

Expression partners for RFX1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
Mammalia RFX1 35
  • 91.09 (n)
  • 95.89 (a)
RFX1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rfx1 35
  • 87.66 (n)
  • 93.12 (a)
Rfx1 16
Rfx1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RFX1 35
  • 99.63 (n)
  • 99.9 (a)
RFX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rfx1 35
  • 87.13 (n)
  • 93.57 (a)
cow
(Bos Taurus)
Mammalia RFX1 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RFX1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RFX1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RFX1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rfx1 35
  • 73.93 (n)
  • 77.21 (a)
zebrafish
(Danio rerio)
Actinopterygii rfx1a 35
  • 70.45 (n)
  • 74.9 (a)
rfx1a 36
  • 66 (a)
OneToMany
rfx1b 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rfx 37
  • 53 (a)
Rfx 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for RFX1:
  • 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

Selected 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 MAF
rs31602 -- 13,982,786(-) TGGAC(A/G)AAGTA intron-variant
rs31603 -- 13,972,425(-) cctga(A/G)gtcag intron-variant
rs31604 -- 13,969,680(-) TCACA(C/T)GTGAC intron-variant
rs897787 -- 13,983,277(+) TGTGG(A/G)GACAA intron-variant
rs1054762 -- 13,968,599(-) GACAT(C/T)AGCGC reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv3738n71 CNV Loss 21882294
nsv911102 CNV Loss 21882294
dgv3739n71 CNV Loss 21882294
dgv3740n71 CNV Loss 21882294
dgv3741n71 CNV Loss 21882294
nsv828451 CNV Loss 20364138
dgv3742n71 CNV Loss 21882294
nsv820186 CNV Loss 19587683
dgv3743n71 CNV Loss 21882294
nsv833761 CNV Loss 17160897

Relevant External Links for RFX1 Gene

HapMap Linkage Disequilibrium report
RFX1

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

Disorders for RFX1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for RFX1 Gene in MalaCards »

(3) Diseases for RFX1 Gene including...

(1) University of Copenhagen DISEASES for RFX1 Gene

(4) Novoseek inferred disease relationships for RFX1 Gene

Disease -log(P) Hits PubMed IDs
bare lymphocyte syndrome 93.8 1
immunodeficiency 39.3 2
hepatitis b 9.41 2
cancer 3.04 1

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

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

Publications for RFX1 Gene

  1. 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 23
  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 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for RFX1 Gene

Sources for RFX1 Gene

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