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UBTF Gene

protein-coding   GIFtS: 59
GCID: GC17M042282

Upstream Binding Transcription Factor, RNA Polymerase I

  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
Upstream Binding Transcription Factor, RNA Polymerase I1 2     90-KDa Nucleolus Organizer Region Autoantigen2
UBF2 3 5     NOR-902
Autoantigen NOR-902 3     UBF22
UBF-12 3     Nucleolar Transcription Factor 12
UBF12 3     Upstream-Binding Factor 13

External Ids:    HGNC: 125111   Entrez Gene: 73432   Ensembl: ENSG000001083127   OMIM: 6006735   UniProtKB: P174803   

Export aliases for UBTF gene to outside databases

Previous GC identifers: GC17M042025 GC17M044461 GC17M042294 GC17M042757 GC17M042759 GC17M039637 GC17M038046


(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 UBTF Gene:
This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in
ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA
polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling
and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively
spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene
are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. (provided by RefSeq,
Aug 2011)

GeneCards Summary for UBTF Gene:
UBTF (upstream binding transcription factor, RNA polymerase I) is a protein-coding gene. Diseases associated with UBTF include treacher collins syndrome, and systemic scleroderma.

UniProtKB/Swiss-Prot: UBF1_HUMAN, P17480
Function: Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I
through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the
upstream control element

Gene Wiki entry for UBTF 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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBTF gene promoter:
         TBP   Sp1   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBTF promoter sequence
   Search Chromatin IP Primers for UBTF

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


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M042282:  view genomic region     (about GC identifiers)

Start:
42,282,401 bp from pter      End:
42,298,994 bp from pter
Size:
16,594 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: UBF1_HUMAN, P17480 (See protein sequence)
Recommended Name: Nucleolar transcription factor 1  
Size: 764 amino acids; 89406 Da
Subunit: Homodimer. Interacts with TBP. Interacts with RASL11A, TAF1A and TAF1D. Binds to IRS1 and PIK3CA (By
similarity). Interacts with DHX33. Interacts with PHF6
4 PDB 3D structures from and Proteopedia for UBTF:
1K99 (3D)        1L8Y (3D)        1L8Z (3D)        2HDZ (3D)    
Secondary accessions: A8K6R8
Alternative splicing: 2 isoforms:  P17480-1   P17480-2   

Explore the universe of human proteins at neXtProt for UBTF: NX_P17480

Explore proteomics data for UBTF at MOPED

Post-translational modifications: 

  • Phosphorylated and activated by PIK3CA (By similarity)1
  • Ubiquitination2 at Lys45, Lys71, Lys132, Lys266, Lys279, Lys333
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001070151.1  NP_001070152.1  NP_055048.1  

    ENSEMBL proteins: 
     ENSP00000345297   ENSP00000302640   ENSP00000431539   ENSP00000437180   ENSP00000390669  
     ENSP00000377231   ENSP00000432925   ENSP00000435708   ENSP00000433625   ENSP00000431295  
     ENSP00000433046  
    Reactome Protein details: P17480

    UBTF Human Recombinant Protein Products:

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    UBTF Assay Products:

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    Cloud-Clone Corp. ELISAs for UBTF
    Cloud-Clone Corp. CLIAs for UBTF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009071 HMG_box_dom

    Graphical View of Domain Structure for InterPro Entry P17480

    ProtoNet protein and cluster: P17480

    UniProtKB/Swiss-Prot: UBF1_HUMAN, P17480
    Similarity: Contains 6 HMG box DNA-binding domains


    UBTF 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: UBF1_HUMAN, P17480
    Function: Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I
    through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the
    upstream control element

         Genatlas biochemistry entry for UBTF:
    RNA polymerase 1,associated transcription factor 1,hUBF-NORGO essential for activation of transcription of 18S and
    28S RNA

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI16777843
    GO:0044822poly(A) RNA binding IDA--
         
    UBTF for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UBTF:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBTF
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBTF

    miRNA
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    miRTarBase miRNAs that target UBTF:
    hsa-mir-484 (MIRT042018), hsa-mir-18a-3p (MIRT040964), hsa-mir-760 (MIRT036787), hsa-mir-26a-5p (MIRT050121), hsa-mir-10a-5p (MIRT047647), hsa-mir-1 (MIRT023670), hsa-mir-328-3p (MIRT043779)

    Block miRNA regulation of human, mouse, rat UBTF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBTF (see all 68):
    hsa-miR-549 hsa-miR-3678-3p hsa-miR-642a hsa-miR-4254 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-519a hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidUBTF 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UBTF

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): UBTF (NM_014233)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBTF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBTF

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBTF


    (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
    UBF1_HUMAN, P17480: Nucleus, nucleolus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus ISS--
    GO:0005737cytoplasm ----

    UBTF 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 UBTF About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Escape
    RNA Polymerase I Promoter Escape0.88
    RNA Polymerase I Transcription Initiation0.55
    RNA Polymerase I Transcription Termination0.88
    Assembly of RNA Polymerase-I Initiation Complex0.32
    2RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Opening0.78
    RNA Polymerase I Chain Elongation0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    RNA Polymerase I Promoter Clearance0.78
    3ERK Signaling
    ERK Signaling0.61
    4Gene Expression
    Gene Expression0.40
    5Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for UBTF
        ERK Signaling
    Assembly of RNA Polymerase-I Initiation Complex

    2 BioSystems Pathways for UBTF
        Regulation of retinoblastoma protein
    Validated targets of C-MYC transcriptional activation

    Selected Reactome Pathways for UBTF (see all 6)
        RNA Polymerase I Chain Elongation
    RNA Polymerase I Promoter Opening
    RNA Polymerase I Promoter Escape
    NoRC negatively regulates rRNA expression
    RNA Polymerase I Transcription Termination



    UBTF for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for UBTF

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

    Selected Interacting proteins for UBTF (P174801, 2, 3 ENSP000003026404) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SETQ011051, 2, 3, ENSP000003617774EBI-396235,EBI-1053182 MINT-4544016 MINT-4543858 MINT-4543985 MINT-4544002 I2D: score=1 STRING: ENSP00000361777
    FBLP220872, 3, ENSP000002218014MINT-1894291 MINT-8373408 I2D: score=1 STRING: ENSP00000221801
    ZMYM2Q9UBW72, 3, ENSP000003723224MINT-62331 I2D: score=3 STRING: ENSP00000372322
    MYCP011061, 3, ENSP000003672074EBI-396235,EBI-447544 I2D: score=2 STRING: ENSP00000367207
    CHGBP050602, 3MINT-63514 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000183chromatin silencing at rDNA IEA--
    GO:0001832blastocyst growth ----
    GO:0006356regulation of transcription from RNA polymerase I promoter TAS2330041
    GO:0006360transcription from RNA polymerase I promoter TAS--
    GO:0006361transcription initiation from RNA polymerase I promoter TAS--

    UBTF 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 UBTF (UBF1)

    10 Novoseek inferred chemical compound relationships for UBTF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rrna 68.2 25 8609157 (5), 9611224 (2), 9843972 (2), 17182730 (2) (see all 12)
    actinomycin 57.9 1 15249688 (1)
    emetine 52.7 3 16827655 (2), 15027350 (1)
    actinomycin d 42.3 8 15265990 (2), 8041627 (1), 8871827 (1), 14729462 (1)
    cisplatin 24.6 7 8645334 (2), 8679707 (2), 9611224 (1), 11874979 (1)
    silver 17.5 2 15598984 (1), 17089916 (1)
    rapamycin 2.34 6 14612424 (2), 16079186 (1)
    agarose 0 1 11874979 (1)
    serine 0 3 8593693 (1), 9843972 (1)
    norepinephrine 0 5 7713937 (4), 8710943 (1)



    UBTF 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 UBTF gene (3 alternative transcripts): 
    NM_001076683.1  NM_001076684.2  NM_014233.3  

    Unigene Cluster for UBTF:

    Upstream binding transcription factor, RNA polymerase I
    Hs.89781  [show with all ESTs]
    Unigene Representative Sequence: NR_045058
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343638(uc002igc.3 uc002igd.3) ENST00000302904(uc010czs.3 uc010czt.3)
    ENST00000527034 ENST00000533177 ENST00000436088 ENST00000393606 ENST00000526094(uc002ige.2)
    ENST00000529383 ENST00000529947 ENST00000531368 ENST00000529373 ENST00000529042
    ENST00000530828 ENST00000537550
    miRNA
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    Block miRNA regulation of human, mouse, rat UBTF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBTF (see all 68):
    hsa-miR-549 hsa-miR-3678-3p hsa-miR-642a hsa-miR-4254 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-519a hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidUBTF 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UBTF
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): UBTF (NM_014233)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBTF
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for UBTF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBTF
      QuantiTect SYBR Green Assays in human, mouse, rat UBTF
      QuantiFast Probe-based Assays in human, mouse, rat UBTF

    Additional mRNA sequence: 

    AF289595.1 AK291733.1 AK292518.1 AK292577.1 AK296917.1 AK298008.1 AK308321.1 BC031423.1 
    BC042297.1 M61724.1 NR_045058.1 X53461.1 X56687.1 X56688.1 

    24 DOTS entries:

    DT.95269646  DT.40290288  DT.443848  DT.97794870  DT.86855132  DT.92444724  DT.120990662  DT.100028900 
    DT.95269645  DT.95269649  DT.101960888  DT.120990639  DT.40266693  DT.95269650  DT.120990536  DT.40131576 
    DT.91654659  DT.91955619  DT.100819337  DT.120990564  DT.65286767  DT.75144517  DT.91911205  DT.95269647 

    Selected AceView cDNA sequences (see all 284):

    AA582869 AW197067 BC042297 AW590081 BM976640 BM823688 BQ640761 AW406797 
    BM801037 BG315286 AA974737 AA526382 BE671708 BM981926 AA453106 BE856492 
    AI928028 AW189464 BU687626 AA812110 BE551316 BQ018214 BX448990 AW194849 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UBTF (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:              -     -     -                                               -                                   -                                         -   
    SP2:                    -     -                                               -                                   -                                         -   
    SP3:                                                                                                              -                                         -   
    SP4:                                                                                                  -           -                                             
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25a · 25b ^ 26
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for UBTF

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


    UBTF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    UBTF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBTF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89781
        Custom PCR Arrays for UBTF
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBTF

    (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 chordates.

    Orthologs for UBTF gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubtf1 , 5 upstream binding transcription factor, RNA polymerase more1, 5 91.97(n)1
    99.26(a)1
      11 (66.29 cM)5
    214291  NM_011551.51  NP_035681.21 
     1023045605 
    chicken
    (Gallus gallus)
    Aves UBTF1 upstream binding transcription factor, RNA polymerase more 88.46(n)
    96.59(a)
      100859792  XM_003643427.2  XP_003643475.2 
    lizard
    (Anolis carolinensis)
    Reptilia UBTF6
    upstream binding transcription factor, RNA polymer...
    85(a)
    1 ↔ 1
    6(66727345-66766255)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526072 similar to upstream binding transcription factor, RNA more 75.67(n)    X57561.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635572 similar to transcription factor UBF 77.93(n)   393978  BC055140.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBTF gene
    4 SIMAP similar genes for UBTF using alignment to 9 protein entries:     UBF1_HUMAN (see all proteins):
    UBTFL6    UBTFL1    SRY    HMGB1

    UBTF for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for UBTF (see all 10)
    PGOHUM00000257814 PGOHUM00000257847 PGOHUM00000257875 PGOHUM00000257901 PGOHUM00000257917


    (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 UBTF (see all 464)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1397800221,2
    --38062774(+) CAGGGA/GAAAAA 2 -- us2k10--------
    rs1148189401,2
    C,F--42281949(+) GCTTCC/TCATCA 4 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1881936611,2
    --42281965(+) CTAGAC/TGGTCC 4 -- ds50010--------
    rs1178897401,2
    F--42282057(+) CCACGA/GTAAGC 4 -- ds50011Minor allele frequency- G:0.01EA 120
    rs1394416141,2
    --42282095(+) GGGCGA/GACCCT 4 -- ds50010--------
    rs1461155501,2
    C--42282225(+) TTGAG-/AGAAAA 4 -- ds50010--------
    rs342345171,2
    C,F--42282327(+) TGGCTT/GCAAGC 4 -- ds50013Minor allele frequency- G:0.04NA WA 122
    rs2001462601,2
    --42282408(+) AAACC-/TTTG  
            
    TTTTT
    4 -- ut31 nc-transcript-variant0--------
    rs1180196381,2
    C,F--42282452(+) ACTTCC/TACAGT 4 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.01NA 120
    rs1449948521,2
    C--42282602(+) TCCCAC/TCCCAG 4 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for UBTF (42282401 - 42298994 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for UBTF:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510713CNV Loss20534489
    nsv908271CNV Loss21882294
    nsv908269CNV Loss21882294
    nsv908272CNV Loss21882294
    esv29087CNV Loss19812545
    nsv833455CNV Loss17160897
    nsv908270CNV Loss21882294
    dgv3174n71CNV Loss21882294
    dgv529n67CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBTF
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    (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: 600673    OMIM disorders: --

    17 diseases for UBTF:    
    About MalaCards
    treacher collins syndrome    systemic scleroderma    scleroderma    retinoblastoma
    herpes simplex    hepatitis c virus    tonsillitis    hepatitis c
    huntington's disease    hepatocellular carcinoma    hepatitis    hiv-1
    thyroiditis    cerebritis    breast cancer    prostatitis
    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for UBTF:
    Systemic scleroderma

    UBTF for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for UBTF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 39.5 3 11511532 (2), 8593693 (1)
    hypertrophy 26.6 15 7713937 (3), 16079186 (2), 8710943 (2), 11511532 (2) (see all 7)
    retinoblastoma 26 1 16079186 (1)
    necrosis 0 3 16827655 (2), 11455567 (1)
    tumors 0 3 16827655 (2), 16079186 (1)


    Export disorders for UBTF 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 UBTF gene, integrated from 10 sources (see all 201):
    (articles sorted by number of sources associating them with UBTF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the RNA polymerase I transcription factor hUBF/NOR-90 (UBTF) gene and localization to 17q21.3 by fluorescence in situ hybridization and radiation hybrid mapping. (PubMed id 9126496)1, 3, 9 Matera A.G.... Chan E.K. (Genomics 1997)
    2. Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins. (PubMed id 2330041)1, 2, 9 Jantzen H.M.... Tjian R. (Nature 1990)
    3. 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)
    4. Solution structure and DNA binding property of the fifth HMG box domain in comparison with the first HMG box domain in human upstream binding factor. (PubMed id 12590579)1, 2 Yang W.... Shi Y. (Biochemistry 2003)
    5. Solution structure of the first HMG box domain in human upstream binding factor. (PubMed id 11969401)1, 2 Xu Y.... Shi Y. (Biochemistry 2002)
    6. Human autoantibody to RNA polymerase I transcription factor hUBF. Molecular identity of nucleolus organizer region autoantigen NOR-90 and ribosomal RNA transcription upstream binding factor. (PubMed id 1940801)1, 2 Chan E.K.L.... Tan E.M. (J. Exp. Med. 1991)
    7. Identification of two forms of the RNA polymerase I transcription factor UBF. (PubMed id 2014238)1, 9 O'Mahony D.J. and Rothblum L.I. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    8. Phosphorylation of UBF at serine 388 is required for interaction with RNA polymerase I and activation of rDNA transcription. (PubMed id 11698641)1, 9 Voit R. and Grummt I. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    9. The species-specific RNA polymerase I transcription factor SL-1 binds to upstream binding factor. (PubMed id 8552083)1, 9 Hempel W.M....Rothblum L.I. (Mol. Cell. Biol. 1996)
    10. UBF activates RNA polymerase I transcription by stimulating promoter escape. (PubMed id 16858408)1, 9 Panov K.I....Zomerdijk J.C. (EMBO J. 2006)

    (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: 7343 HGNC: 12511 AceView: UBTF Ensembl:ENSG00000108312 euGenes: HUgn7343
    ECgene: UBTF H-InvDB: UBTF

    (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 UBTF 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 UBTF gene:
    Search GeneIP for patents involving UBTF

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



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