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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RFX1 Gene

protein-coding   GIFtS: 57
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 and DNA binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RFX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22670

  • RFX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RFX1 Protein Expression
    REFSEQ proteins: NP_002909.4  
    ENSEMBL proteins: 
     ENSP00000254325   ENSP00000464960  

    Human Recombinant Protein Products for RFX1: 
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    OriGene MassSpec for RFX1 
    OriGene Custom Protein Services for RFX1
    GenScript Custom Purified and Recombinant Proteins Services for RFX1
    Novus Biologicals RFX1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RFX1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    RFX1 for ontologies           About GeneDecksing



    RFX1 Antibody Products: 
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    Cloud-Clone Corp. Antibodies for RFX1 
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    LSBio Antibodies in human, mouse, rat for RFX1 

    Assay Products for RFX1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for RFX1 
    Cloud-Clone Corp. CLIAs for RFX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for RFX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    10/609 SABiosciences Target genes for RFX1 (see all 609):
    A1BG ABHD2 ABHD3 ABLIM3 ACACB ACO2 ACOT6 ACOX2 ACOX3 ACTRT1

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

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFX1
    8/45 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RFX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFX1

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of RFX1

    Clone
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    OriGene ORF clones in mouse, rat for RFX1
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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
    Sirion Biotech Customized lentivirus for stable overexpression of RFX1 
                         Customized lentivirus expression plasmids for stable overexpression of RFX1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RFX1
    Search LifeMap BioReagents cell lines for RFX1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFX1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RFX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/571 Interacting proteins for RFX1 (P226702, 3 ENSP000002543254) via UniProtKB, MINT, STRING, and/or I2D (see all 571)
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006955immune response TAS1505960

    RFX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RFX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about RFX1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RFX1
    8/45 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RFX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RFX1
    Clone
    Products:
         
    OriGene clones in human, mouse for RFX1 (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of RFX1 
                         Customized lentivirus expression plasmids for stable overexpression of RFX1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RFX1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RFX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RFX1
      QIAGEN 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 

    24/88 AceView cDNA sequences (see all 88):

    BG397745 BC049826 AA614838 NM_002918 AI417358 BG479691 BG393282 AI804324 
    AW732893 BM557928 BE043039 H10048 X58964 BX096049 BF984656 AI138329 
    BF508311 AI204295 BU681291 AI637732 AI933234 BF111397 BU615469 BU902710 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RFX1 expression in normal human tissues (normalized intensities)      RFX1 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles

    See RFX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RFX1

    SOURCE GeneReport for Unigene cluster: Hs.655215
        SABiosciences Custom PCR Arrays for RFX1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RFX1
    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RFX1 gene from 7/15 species (see all 15)    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 87.84(n)1
    93.24(a)1
      8 (40.28 cM)5
    197241  NM_009055.41  NP_033081.31 
     840668365 
    lizard
    (Anolis carolinensis)
    Reptilia RFX16
    Uncharacterized protein
    79(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) 67.25(n)
    70.03(a)
      100038773  NM_001089553.1  NP_001083022.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rfx3 RNA polymerase II transcription factor 53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea daf-196
    RFX-like transcription factor daf-19
    29(a)
    1 → many
    II(10157537-10169321)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RFX16
    Major transcriptional repressor of DNA-damage-regu...
    13(a)
    1 → many
    XII(507797-510232)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1029 SNPs in RFX1 are shown (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

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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.)
    About This Section
    OMIM gene information: 600006    OMIM disorders: --

    15 diseases for RFX1:    About MalaCards
    mhc class ii deficiency    bare lymphocyte syndrome    hepatitis b    sickle cell anemia
    hepatitis    severe combined immunodeficiency    b-cell lymphomas    vaccinia
    diffuse large b-cell lymphoma    anemia    neuroblastoma    adenocarcinoma
    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)
    About This Section

    PubMed articles for RFX1 gene, integrated from 9 sources (see all 130):
    (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. (1990)
    2. The genes for MHC class II regulatory factors RFX1 an d RFX2 are located on the short arm of chromosome 19. (PubMed id 1505960)1, 3, 9 Pugliatti L....Mach B. (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. (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. (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. (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. (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. (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. (1993)
    9. RFX1 mediates the serum-induced immediate early response of Id2 gene expression. (PubMed id 17630394)1, 9 Wang K.R....Yokota Y. (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. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5989 HGNC: 9982 AceView: RFX1 Ensembl:ENSG00000132005 euGenes: HUgn5989
    ECgene: RFX1 H-InvDB: RFX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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