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RFX1 Gene

protein-coding   GIFtS: 58
GCID: GC19M014072

Regulatory Factor X, 1 (Influences HLA Class II Expression)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Regulatory Factor X, 1 (Influences HLA Class II Expression)1 2     Transcription Factor RFX12 3
Enhancer Factor C1 2 3     RFX2 3
MHC Class II Regulatory Factor RFX1 2     EFC2
Trans-Acting Regulatory Factor 11 2     MHC Class II Regulatory Factor RFX12
Regulatory Factor X 12 3     EF-C3

External Ids:    HGNC: 99821   Entrez Gene: 59892   Ensembl: ENSG000001320057   OMIM: 6000065   UniProtKB: P226703   

Export aliases for RFX1 gene to outside databases

Previous GC identifers: GC19M014429 GC19M013917 GC19M013933 GC19M013643


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bare lymphocyte syndrome. 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 RFX6.

UniProtKB/Swiss-Prot: RFX1_HUMAN, P22670
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 Wiki entry for RFX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RFX1 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   CBF-C   E2F-1   E2F   CBF-A   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFX1 promoter sequence
   Search Chromatin IP Primers for RFX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RFX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.1

RFX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RFX1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M014072:  view genomic region     (about GC identifiers)

Start:
14,072,342 bp from pter      End:
14,117,851 bp from pter
Size:
45,510 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RFX1_HUMAN, P22670 (See protein sequence)
Recommended Name: MHC class II regulatory factor RFX1  
Size: 979 amino acids; 104758 Da
Subunit: Binds DNA as a homodimer
1 PDB 3D structure from and Proteopedia for RFX1:
1DP7 (3D)    

Explore the universe of human proteins at neXtProt for RFX1: NX_P22670

Explore proteomics data for RFX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RFX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002909.4  
    ENSEMBL proteins: 
     ENSP00000254325   ENSP00000464960  

    RFX1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR003150 DNA-bd_RFX
     IPR007668 RFX1_trans_act

    Graphical View of Domain Structure for InterPro Entry P22670

    ProtoNet protein and cluster: P22670

    2 Blocks protein domains:
    IPB003150 DNA-binding RFX
    IPB007668 RFX1 transcription activation region


    UniProtKB/Swiss-Prot: RFX1_HUMAN, P22670
    Similarity: Belongs to the RFX family
    Similarity: Contains 1 RFX-type winged-helix DNA-binding domain


    RFX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RFX1_HUMAN, P22670
    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

         Genatlas biochemistry entry for RFX1:
    transactivating DNA binding regulator 1,involved in MHC class II expression,binding the MHC promoter box X

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS8289803
    GO:0005515protein binding IPI16289097
         
    RFX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rfx1):
     mortality/aging 

    RFX1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RFX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RFX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RFX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RFX1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GGTTGCCATGGCAA 

    miRNA
    Products:
        
    miRTarBase miRNAs that target RFX1:
    hsa-mir-346 (MIRT004241), hsa-mir-124-3p (MIRT022998), hsa-mir-197-3p (MIRT004209)

    Block miRNA regulation of human, mouse, rat RFX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFX1 (see all 45):
    hsa-miR-300 hsa-miR-513a-5p hsa-miR-1245 hsa-miR-200a hsa-miR-25 hsa-miR-3653 hsa-miR-570 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidRFX1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RFX1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: RFX1 (NM_002918)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFX1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for RFX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RFX1_HUMAN, P22670: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    plasma membrane2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    RFX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RFX1
    Interactions:

        GeneGlobe Interaction Network for RFX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RFX1 (P226702, 3 ENSP000002543254) via UniProtKB, MINT, STRING, and/or I2D (see all 625)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADD1P356112, 3, ENSP000002647584MINT-72730 MINT-72732 MINT-72731 I2D: score=2 STRING: ENSP00000264758
    SMAD9O151982, 3, ENSP000003691544MINT-62083 I2D: score=3 STRING: ENSP00000369154
    HDAC1Q135472, 3, ENSP000003626494MINT-7947479 I2D: score=2 STRING: ENSP00000362649
    TADA3O755282, 3MINT-63209 I2D: score=5 
    SMAD1Q157972, 3, ENSP000003057694MINT-61998 I2D: score=3 STRING: ENSP00000305769
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8289803
    GO:0006366transcription from RNA polymerase II promoter TAS8289803
    GO:0006955immune response TAS1505960

    RFX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RFX1

    1 Novoseek inferred chemical compound relationship for RFX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 9.54 4 10642512 (3), 19450544 (1)



    RFX1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RFX1 gene: 
    NM_002918.4  

    Unigene Cluster for RFX1:

    Regulatory factor X, 1 (influences HLA class II expression)
    Hs.655215  [show with all ESTs]
    Unigene Representative Sequence: NM_002918
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254325(uc002mxv.3 uc010dzi.2) ENST00000588520 ENST00000589239
    ENST00000589937 ENST00000589760 ENST00000588885 ENST00000586913
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RFX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RFX1 (see all 45):
    hsa-miR-300 hsa-miR-513a-5p hsa-miR-1245 hsa-miR-200a hsa-miR-25 hsa-miR-3653 hsa-miR-570 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidRFX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RFX1
    Predesigned siRNA for gene silencing in human, mouse, rat RFX1
    Clone
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    OriGene clones in human, mouse for RFX1 (see all 6)
    OriGene ORF clones in mouse, rat for RFX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RFX1 (NM_002918)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RFX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RFX1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RFX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RFX1
      QuantiTect SYBR Green Assays in human, mouse, rat RFX1
      QuantiFast Probe-based Assays in human, mouse, rat RFX1

    Additional mRNA sequence: 

    AK309824.1 BC049826.1 X58964.1 

    3 DOTS entries:

    DT.407374  DT.86836256  DT.40210849 

    Selected AceView cDNA sequences (see all 88):

    BG397745 AA614838 BC049826 BF984656 AI417358 BM557928 BG393282 BE043039 
    BG479691 BX096049 AW732893 H10048 AI804324 X58964 NM_002918 BU902710 
    BU615469 T28898 BG335348 AI609655 AI298921 BF508311 BU681291 BM662273 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RFX1    About this scheme

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


    ECgene alternative splicing isoforms for RFX1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RFX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTTATCTG
    RFX1 Expression
    About this image


    RFX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
    RFX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655215
        Custom PCR Arrays for RFX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RFX1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfx11 , 5 regulatory factor X, 1 (influences HLA class II expression)1, 5 87.66(n)1
    93.12(a)1
      8 (40.28 cM)5
    197241  NM_009055.41  NP_033081.31 
     840668365 
    lizard
    (Anolis carolinensis)
    Reptilia RFX16
    regulatory factor X, 1 (influences HLA class II ex...
    80(a)
    1 ↔ 1
    2(76871750-76937315)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ066285.12   -- 74.43(n)    BJ066285.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rfx1a1 regulatory factor X, 1a (influences HLA class II expression) 70.45(n)
    74.9(a)
      100038773  NM_001089553.1  NP_001083022.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rfx3 RNA polymerase II transcription factor 53(a)     --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RFX1 gene
    RFX62  RFX32  RFX82  RFX42  RFX22  
    2 SIMAP similar genes for RFX1 using alignment to 2 protein entries:     RFX1_HUMAN (see all proteins):
    RFX3    RFX2

    RFX1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RFX1 (see all 1029)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1164637431,2
    C,F--14072781(+) AAACCA/GGCGGC 1 -- ut311Minor allele frequency- G:0.07WA 118
    rs124630391,2
    H--14073199(+) CGGGGA/CTGGGG 1 -- ut31 ese30--------
    rs1995321071,2
    C--14073309(+) GTGTC-/AGAGTTT 1 -- ut310--------
    rs614975671,2
    F--14073411(+) CCCTGG/ACTGAG 1 -- ut312Minor allele frequency- A:0.06CSA WA 120
    rs1834843871,2
    C--14073424(+) TGGAGC/TAGTGA 1 -- ut310--------
    rs1881672411,2
    --14073472(+) GAGGGA/GTGGCG 1 -- ut310--------
    rs1117748351,2
    C--14073578(+) CTCCAT/GGGTCT 2 /M /L mis12Minor allele frequency- G:0.25CSA 4
    rs2016955011,2
    --14073635(+) CTGCGA/GCAGCT 2 P S mis10--------
    rs2012666261,2
    C--14073642(+) AGCTCC/GTCCTC 2 D E mis10--------
    rs1999546791,2
    C--14073794(+) GAACAC/TGCCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for RFX1 (14072342 - 14117851 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RFX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820186CNV Loss19587683
    nsv911102CNV Loss21882294
    nsv833761CNV Loss17160897
    dgv3743n71CNV Loss21882294
    dgv3742n71CNV Loss21882294
    dgv3738n71CNV Loss21882294
    dgv3741n71CNV Loss21882294
    nsv828451CNV Loss20364138
    dgv3739n71CNV Loss21882294
    dgv3740n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RFX1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600006    OMIM disorders: --

    17 diseases for RFX1:    
    About MalaCards
    mhc class ii deficiency    bare lymphocyte syndrome    hepatitis b    sickle cell anemia
    hepatitis    severe combined immunodeficiency    diffuse large b-cell lymphoma    b-cell lymphomas
    vaccinia    brain cancer    neuroblastoma    adenocarcinoma
    multiple myeloma    myeloma    leukemia    breast cancer
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for RFX1:
    Severe combined immunodeficiency

    RFX1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for RFX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bare lymphocyte syndrome 93.8 1 10586057 (1)
    immunodeficiency 39.3 2 8436816 (1), 8290561 (1)
    hepatitis b 9.41 2 20155784 (1), 8600444 (1)
    cancer 3.04 1 15788405 (1)

    Genatlas disease: RFX1
    immunodeficiency,severe combined with defective expression of MHC class II gene

    Human Genome Epidemiology (HuGE) Navigator: RFX1 (1 document)

    Export disorders for RFX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RFX1 gene, integrated from 10 sources (see all 131):
    (articles sorted by number of sources associating them with RFX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MHC class II regulatory factor RFX has a novel DNA-binding domain and a functionally independent dimerization domain. (PubMed id 2253877)1, 2, 9 Reith W.... Mach B. (Genes Dev. 1990)
    2. The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19. (PubMed id 1505960)1, 3, 9 Pugliatti L....Mach B. (Genomics 1992)
    3. RFX1, a transactivator of hepatitis B virus enhancer I, belongs to a novel family of homodimeric and heterodimeric DNA-binding proteins. (PubMed id 8289803)1, 3, 9 Reith W.... Mach B. (Mol. Cell. Biol. 1994)
    4. Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding. (PubMed id 10706293)1, 2, 9 Gajiwala K.S....Burley S.K. (Nature 2000)
    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. (PubMed id 1508204)1, 2, 9 Sanchez-Herrero C.... Mach B. (Mol. Cell. Biol. 1992)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. RFX1 is identical to enhancer factor C and functions as a transactivator of the hepatitis B virus enhancer. (PubMed id 8413236)1, 2 Siegrist C.A....Reith W. (Mol. Cell. Biol. 1993)
    8. Transcription factor RFX1 helps control the promoter of the mouse ribosomal protein-encoding gene rpL30 by binding to its alpha element. (PubMed id 8224874)1, 2 Safrany G. and Perry R.P. (Gene 1993)
    9. RFX1 mediates the serum-induced immediate early response of Id2 gene expression. (PubMed id 17630394)1, 9 Wang K.R....Yokota Y. (J. Biol. Chem. 2007)
    10. Nuclear import and DNA-binding activity of RFX1. Evidence for an autoinhibitory mechanism. (PubMed id 11358531)1, 9 Katan-Khaykovich Y. and Shaul Y. (Eur. J. Biochem. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5989 HGNC: 9982 AceView: RFX1 Ensembl:ENSG00000132005 euGenes: HUgn5989
    ECgene: RFX1 H-InvDB: RFX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RFX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RFX1 gene:
    Search GeneIP for patents involving RFX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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