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BRF1 Gene

protein-coding   GIFtS: 61
GCID: GC14M105675

BRF1, RNA Polymerase III Transcription Initiation Factor...

(Previous names: TATA box binding protein (TBP)-associated factor, RNA polymerase...)
(Previous symbols: TAF3B2, TAF3C, GTF3B)
  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
BRF1, RNA Polymerase III Transcription Initiation Factor 90 KDa
Subunit1 2
     TAFIII902
GTF3B1 2 3 5     B - Related Factor 12
TAF3C1 2 3 5     BRF1 Homolog, Subunit Of RNA Polymerase III Transcription Initiation
Factor IIIB2
TAF3B21 2 3     Epididymis Secretory Sperm Binding Protein Li 76p2
TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase III,
GTF3B Subunit 21 2
     General Transcription Factor IIIB, 90kD Subunit2
BRF2 3     TATA Box Binding Protein (TBP)-Associated Factor 3C2
BRF-12 3     TBP - Associated Factor, RNA Polymerase III, 90kD2
TFIIIB902 3     Transcription Factor IIIB 90 KDa Subunit2
hBRF2 3     B-Related Factor 13
TF3B902 5     hTFIIIB903
BRF1 Homolog, Subunit Of RNA Polymerase III Transcription Initiation
Factor IIIB (S. Cerevisiae)1
     TATA Box-Binding Protein-Associated Factor, RNA Polymerase III, Subunit 23
HEL-S-76p2     

External Ids:    HGNC: 115511   Entrez Gene: 29722   Ensembl: ENSG000001850247   OMIM: 6049025   UniProtKB: Q929943   

Export aliases for BRF1 gene to outside databases

Previous GC identifers: GC14M103054 GC14M099666 GC14M103647 GC14M104746 GC14M085867


(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 BRF1 Gene:
This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex
plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other
small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants
encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been
identified. (provided by RefSeq, Jun 2011)

GeneCards Summary for BRF1 Gene:
BRF1 (BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit) is a protein-coding gene. Diseases associated with BRF1 include hypobetalipoproteinemia, and vaccinia. GO annotations related to this gene include TBP-class protein binding.

UniProtKB/Swiss-Prot: TF3B_HUMAN, Q92994
Function: General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct
promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is
required for transcription of the U6 promoter

Gene Wiki entry for BRF1 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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BRF1 gene promoter:
         TBP   AP-1   TFIID   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BRF1 promoter sequence
   Search Chromatin IP Primers for BRF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BRF1


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

Entrez Gene cytogenetic band: 14q   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

BRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRF1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M105675:  view genomic region     (about GC identifiers)

Start:
105,675,623 bp from pter      End:
105,781,926 bp from pter
Size:
106,304 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TF3B_HUMAN, Q92994 (See protein sequence)
Recommended Name: Transcription factor IIIB 90 kDa subunit  
Size: 677 amino acids; 73840 Da
Subunit: TFIIIB comprises at least the TATA-binding protein (TBP) and the B-related factor 1 (BRF1/TFIIIB90).
Interacts with BDP1
Sequence caution: Sequence=AAC50170.1; Type=Frameshift; Positions=344, 405;
Secondary accessions: B3KU36 B4DIG5 B7Z2N3 F5H5Z7 F8WA46 Q13223 Q3SYD9 Q5PR24 Q6IQ02 Q96KX3
Q9HCW6 Q9HCW7 Q9HCW8
Alternative splicing: 9 isoforms:  Q92994-1   Q92994-2   Q92994-3   Q92994-4   Q92994-5   Q92994-6   Q92994-7   Q92994-8   
Q92994-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRF1: NX_Q92994

Explore proteomics data for BRF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys537
  • Modification sites at PhosphoSitePlus

  • See BRF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001229715.1  NP_001229716.1  NP_001229717.1  NP_001229718.1  NP_001229719.1  NP_001510.2  NP_663718.1  

    ENSEMBL proteins: 
     ENSP00000376340   ENSP00000369269   ENSP00000448323   ENSP00000448387   ENSP00000389859  
     ENSP00000446901   ENSP00000329029   ENSP00000388877   ENSP00000450151   ENSP00000448723  
     ENSP00000449788   ENSP00000450258   ENSP00000449173   ENSP00000447521   ENSP00000448823  
     ENSP00000446707   ENSP00000369264  
    Reactome Protein details: Q92994

    BRF1 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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    HGNC Gene Families:
    GTF: General transcription factors

    5 InterPro protein domains:
     IPR011665 BRF1_TBP-bd
     IPR000812 TFIIB
     IPR013763 Cyclin-like
     IPR013150 TFIIB_cyclin
     IPR013137 Znf_TFIIB

    Graphical View of Domain Structure for InterPro Entry Q92994

    ProtoNet protein and cluster: Q92994

    4 Blocks protein domains:
    IPB000812 Transcription factor TFIIB family
    IPB006670 Cyclin
    IPB011665 Brf1-like TBP-binding
    IPB013137 Zinc finger


    UniProtKB/Swiss-Prot: TF3B_HUMAN, Q92994
    Similarity: Belongs to the TFIIB family
    Similarity: Contains 1 TFIIB-type zinc finger


    BRF1 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: TF3B_HUMAN, Q92994
    Function: General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct
    promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is
    required for transcription of the U6 promoter

         Genatlas biochemistry entry for BRF1:
    butyrate response factor 1,member of the immediate early response gene family, specifying a putative nuclear
    transcription factor

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
    GO:0017025TBP-class protein binding IEA--
         
    BRF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BRF1:
     Synthetic lethal with c-Myc af 

    Animal Models:
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    (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
    TF3B_HUMAN, Q92994: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000126transcription factor TFIIIB complex NAS8943358
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--

    BRF1 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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    SuperPaths for BRF1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.88
    RNA Polymerase III Transcription Initiation From Type 1 Promoter0.77
    RNA Polymerase III Abortive And Retractive Initiation0.88
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Transcription0.88
    2Transcription of tRNA
    Assembly of RNA Polymerase-III Initiation Complex0.00
    Transcription of tRNA
    3RNA Polymerase I Promoter Opening
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    4ERK Signaling
    ERK Signaling0.61
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BRF1
        ERK Signaling
    Transcription of tRNA
    Assembly of RNA Polymerase-III Initiation Complex

    1 BioSystems Pathway for BRF1
        Integrated Pancreatic Cancer Pathway


    3 Reactome Pathways for BRF1
        RNA Polymerase III Transcription Initiation From Type 1 Promoter
    RNA Polymerase III Transcription Initiation From Type 2 Promoter
    RNA Polymerase III Abortive And Retractive Initiation



    BRF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BRF1
    Interactions:

        GeneGlobe Interaction Network for BRF1

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

    Selected Interacting proteins for BRF1 (Q929942, 3 ENSP000003290294) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBPP202262, 3, ENSP000002303544MINT-2859470 I2D: score=4 STRING: ENSP00000230354
    RBL2Q089993, ENSP000002621334I2D: score=4 STRING: ENSP00000262133
    TP53P046373, ENSP000002693054I2D: score=3 STRING: ENSP00000269305
    DTNBP1Q96EV83, ENSP000003416804I2D: score=2 STRING: ENSP00000341680
    GTF3C3Q9Y5Q93, ENSP000002639564I2D: score=2 STRING: ENSP00000263956
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006352DNA-templated transcription, initiation ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006383transcription from RNA polymerase III promoter TAS--
    GO:0006384transcription initiation from RNA polymerase III promoter TAS7624363
    GO:0009303rRNA transcription TAS7624363

    BRF1 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 BRF1 (TF3B)

    3 Novoseek inferred chemical compound relationships for BRF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    butyrate 62.4 8 12198173 (1), 15880358 (1), 15538381 (1), 18419273 (1) (see all 7)
    trna 34.2 1 15592529 (1)
    zinc 20.5 7 10733531 (3), 12198173 (2), 14518004 (1), 16227591 (1)



    BRF1 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,
    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 BRF1 gene (8 alternative transcripts): 
    NM_001242786.1  NM_001242787.1  NM_001242788.1  NM_001242789.1  NM_001242790.1  NM_001519.3  NM_145685.2  NM_145696.1  

    Unigene Cluster for BRF1:

    BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)
    Hs.424484  [show with all ESTs]
    Unigene Representative Sequence: NM_001519
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000392557(uc001yql.2 uc001yqn.2 uc010axh.1 uc010axj.1)
    ENST00000379937 ENST00000546474(uc001yqp.2 uc010axg.1 uc010tyo.1 uc010typ.1)
    ENST00000547374(uc010axi.1) ENST00000547530(uc001yqk.2) ENST00000446501(uc001yqo.2)
    ENST00000551787 ENST00000546997 ENST00000327359 ENST00000440513 ENST00000549044
    ENST00000547562 ENST00000547052 ENST00000549655 ENST00000552127 ENST00000546417
    ENST00000550208 ENST00000550375
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    Additional mRNA sequence: 

    AJ297406.1 AJ297407.1 AJ297408.1 AK096471.1 AK124665.1 AK125024.1 AK126499.1 AK294899.1 
    AK295579.1 BC016743.2 BC071637.1 BC086856.1 BC103859.1 BC103860.2 BC103861.2 BC127832.1 
    BC133655.1 BC150588.1 U75276.1 

    15 DOTS entries:

    DT.100789165  DT.413284  DT.120730112  DT.101955870  DT.101977952  DT.104677  DT.100789163  DT.101982454 
    DT.75103268  DT.95302185  DT.120730115  DT.100029563  DT.120730187  DT.75103267  DT.95272769 

    15 AceView cDNA sequences:

    NM_001519 NM_145685 AK124665 CR607892 NM_145696 BC071637 AJ297406 AJ297408 
    AK126499 U75276 AK096471 BC016743 AJ297407 AK125024 U28838 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BRF1 (see all 15)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b · 15c ·
    SP1:                          -           -     -     -     -                                                           -     -                 -     -         
    SP2:        -                 -           -     -     -     -                                                           -     -                 -     -         
    SP3:                                                        -                                                           -     -                 -     -         
    SP4:                                                                                                                                            -     -         
    SP5:                                                        -                                                     -     -     -     -     -     -     -     -   

    ExUns: 15d · 15e ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                -                           
    SP2:                                -                           
    SP3:                                -                           
    SP4:                                -                           
    SP5:  -     -     -     -     -     -     -     -     -         


    ECgene alternative splicing isoforms for BRF1

    (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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    BRF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BRF1 Expression
    About this image

    BRF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.424484
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    In Situ
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    (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 and fungi.

    Orthologs for BRF1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brf11 , 5 BRF1 homolog, subunit of RNA polymerase III transcription more1, 5 83.33(n)1
    89.94(a)1
      12 (61.47 cM)5
    723081  NM_028193.31  NP_082469.21 
     1129598625 
    chicken
    (Gallus gallus)
    Aves BRF11 BRF1 homolog, subunit of RNA polymerase III transcription more 72.12(n)
    78.08(a)
      423503  XM_004936420.1  XP_004936477.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRF16
    BRF1, RNA polymerase III transcription initiation ...
    77(a)
    1 ↔ 1
    1(1079588-1327255)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL871614.22   -- 78.35(n)    AL871614.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi40c102 wufi40c10 75.15(n)   334316  BC060523.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Brf1 , 3 regulation of transcription from Pol
    III promoter more3
    Brf1
    56(a)3
    55.47(n)1
    51.63(a)1
      420871  NM_142359.21  NP_650616.21 
    worm
    (Caenorhabditis elegans)
    Secernentea brf-11 , 3 transcription initiation factor IIB3
    brf-11
    48(a)3
    45.85(n)1
    44.94(a)1
      II(7305805-7308362)3
    1741991  NM_063125.41  NP_495526.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BRF1(YGR246C)4
    BRF11
    TFIIIB B-related factor, one of three subunits of RNA more4
    BRF11
    48.06(n)1
    44.18(a)1
      7(984272-982482)4
    8531611, 4  NP_011762.11, 4 


    ENSEMBL Gene Tree for BRF1 (if available)
    TreeFam Gene Tree for BRF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 BRF1 (see all 2011)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357234
    A colorectal cancer sample4--see VAR_0357232 V M mis40--------
    rs1180917771,2
    C,F--105675216(+) CCCACC/TTGCAC 6 -- ds50011Minor allele frequency- T:0.06EA 120
    rs23127411,2
    C,F,A--105675235(-) CCCAGA/GGGCCC 6 -- ds500111Minor allele frequency- G:0.39NA WA CSA 254
    rs727097141,2
    C--105675337(+) CCGTTT/CCACTT 6 -- ds50013Minor allele frequency- C:0.08NA WA 240
    rs118460221,2
    C,F,H--105675399(+) GGGACT/CTGTCC 6 -- ds500112Minor allele frequency- C:0.33NA WA CSA EA 378
    rs758278581,2
    F--105675476(+) AGTAGT/CTGGGG 6 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1132839991,2
    C,F--105675612(+) GACAAG/CCCTCA 6 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs1833321361,2
    --105675693(+) AGCCCA/TGGCAG 6 -- ut310--------
    rs1135510761,2
    C,F--105675695(+) CCCTGG/ACAGGA 6 -- ut311Minor allele frequency- A:0.50CSA 2
    rs82701,2
    C,F,O,A,H--105675701(-) CCTGGG/TTCCTG 6 -- ut31 ese324Minor allele frequency- T:0.36MN NS EA NA WA CSA 2159

    HapMap Linkage Disequilibrium report for BRF1 (105675623 - 105781926 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BRF1 (see all 51):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749286CNV Deletion23290073
    esv2749290CNV Deletion23290073
    esv1158096CNV Deletion17803354
    esv2749282CNV Deletion23290073
    esv2265156CNV Deletion18987734
    esv2749284CNV Deletion23290073
    esv1410440CNV Deletion17803354
    esv2953CNV Deletion18987735
    dgv311e201CNV Deletion23290073
    esv2749288CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for BRF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604902    OMIM disorders: --

    11 diseases for BRF1:    
    About MalaCards
    hypobetalipoproteinemia    vaccinia    breast and colorectal cancer    pancreatic cancer
    schizophrenia    ataxia    cervicitis    pancreatitis
    squamous cell carcinoma    colorectal cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for BRF1:
    Hypobetalipoproteinemia

    BRF1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for BRF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 17968325 (2), 18394985 (1)

    Genetic Association Database (GAD): BRF1
    Human Genome Epidemiology (HuGE) Navigator: BRF1 (1 document)

    Export disorders for BRF1 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 BRF1 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with BRF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RNA polymerase III transcription from the human U6 and adenovirus type 2 VAI promoters has different requirements for human BRF, a subunit of human TFIIIB. (PubMed id 8943358)1, 2, 3, 9 Mital R.... Hernandez N. (Mol. Cell. Biol. 1996)
    2. Structure and function of a human transcription factor TFIIIB subunit that is evolutionarily conserved and contains both TFIIB- and high- mobility-group protein 2-related domains. (PubMed id 7624363)1, 2, 3 Wang Z. and Roeder R.G. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    3. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. Alternatively spliced hBRF variants function at different RNA polymerase III promoters. (PubMed id 10921893)1, 2 McCulloch V.... Lobo-Ruppert S.M. (EMBO J. 2000)
    8. Differential expression of the TFIIIB subunits Brf1 and Brf2 in cancer cells. (PubMed id 18700021)1, 9 Cabarcas S....Schramm L. (BMC Mol. Biol. 2008)
    9. The AU-rich element mRNA decay-promoting activity of BRF1 is regulated by mitogen-activated protein kinase-activated protein kinase 2. (PubMed id 18326031)1, 9 Maitra S....Chen C.Y. (RNA 2008)
    10. The ARE-dependent mRNA-destabilizing activity of BRF1 is regulated by protein kinase B. (PubMed id 15538381)1, 9 Schmidlin M....Moroni C. (EMBO J. 2004)

    (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: 2972 HGNC: 11551 AceView: BRF1 Ensembl:ENSG00000185024 euGenes: HUgn2972
    ECgene: BRF1 H-InvDB: BRF1

    (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 BRF1 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 BRF1 gene:
    Search GeneIP for patents involving BRF1

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



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