Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UBTF Gene

Aliases for UBTF Gene

  • Upstream Binding Transcription Factor, RNA Polymerase I 2 3 5
  • Autoantigen NOR-90 3 4
  • UBF-1 3 4
  • UBF1 3 4
  • UBF 3 4
  • 90-KDa Nucleolus Organizer Region Autoantigen 3
  • Upstream-Binding Factor 1 4
  • NOR-90 3
  • UBF2 3

External Ids for UBTF Gene

Previous GeneCards Identifiers for UBTF Gene

  • GC17M042025
  • GC17M044461
  • GC17M042294
  • GC17M042757
  • GC17M042759
  • GC17M039637
  • GC17M038046
  • GC17M042282

Summaries for UBTF Gene

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 gastric antral vascular ectasia and limited scleroderma. Among its related pathways are Akt Signaling Pathway and Assembly of RNA Polymerase-I Initiation Complex. GO annotations related to this gene include poly(A) RNA binding and binding. An important paralog of this gene is UBTFL1.

UniProtKB/Swiss-Prot for UBTF Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBTF Gene

Genomics for UBTF Gene

Regulatory Elements for UBTF Gene

Enhancers for UBTF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UBTF on UCSC Golden Path with GeneCards custom track

Promoters for UBTF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBTF on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the UBTF gene promoter:

Genomic Location for UBTF Gene

Chromosome:
17
Start:
44,205,033 bp from pter
End:
44,221,626 bp from pter
Size:
16,594 bases
Orientation:
Minus strand

Genomic View for UBTF Gene

Genes around UBTF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBTF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBTF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBTF Gene

Proteins for UBTF Gene

  • Protein details for UBTF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17480-UBF1_HUMAN
    Recommended name:
    Nucleolar transcription factor 1
    Protein Accession:
    P17480
    Secondary Accessions:
    • A8K6R8

    Protein attributes for UBTF Gene

    Size:
    764 amino acids
    Molecular mass:
    89406 Da
    Quaternary structure:
    • Homodimer. Interacts with TBP. Interacts with RASL11A, TAF1A and TAF1D. Binds to IRS1 and PIK3CA (By similarity). Interacts with DHX33. Interacts with PHF6. Interacts with CEBPA (isoform 1 and isoform 4) (PubMed:20075868).

    Three dimensional structures from OCA and Proteopedia for UBTF Gene

    Alternative splice isoforms for UBTF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBTF Gene

Proteomics data for UBTF Gene at MOPED

Post-translational modifications for UBTF Gene

  • Phosphorylated and activated by PIK3CA.
  • Ubiquitination at Lys 45, Lys 71, Lys 132, Lys 266, Lys 279, Lys 333, and Lys 216
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBTF Gene

Domains & Families for UBTF Gene

Protein Domains for UBTF Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P17480

UniProtKB/Swiss-Prot:

UBF1_HUMAN :
  • Contains 6 HMG box DNA-binding domains.
Domain:
  • Contains 6 HMG box DNA-binding domains.
genes like me logo Genes that share domains with UBTF: view

No data available for Gene Families for UBTF Gene

Function for UBTF Gene

Molecular function for UBTF Gene

GENATLAS Biochemistry:
RNA polymerase 1,associated transcription factor 1,hUBF-NORGO essential for activation of transcription of 18S and 28S RNA
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for UBTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with UBTF: view
genes like me logo Genes that share phenotypes with UBTF: view

Animal Models for UBTF Gene

MGI Knock Outs for UBTF:

Animal Model Products

miRNA for UBTF Gene

miRTarBase miRNAs that target UBTF

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBTF Gene

Localization for UBTF Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBTF Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBTF Gene COMPARTMENTS Subcellular localization image for UBTF gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for UBTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with UBTF: view

Pathways & Interactions for UBTF Gene

genes like me logo Genes that share pathways with UBTF: view

SIGNOR curated interactions for UBTF Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for UBTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006356 regulation of transcription from RNA polymerase I promoter TAS 2330041
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with UBTF: view

Drugs & Compounds for UBTF Gene

(4) Drugs for UBTF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for UBTF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UBTF: view

Transcripts for UBTF Gene

Unigene Clusters for UBTF Gene

Upstream binding transcription factor, RNA polymerase I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBTF Gene

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:
SP6:
SP7: - - - -
SP8: -
SP9: -

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for UBTF Gene

GeneLoc Exon Structure for
UBTF
ECgene alternative splicing isoforms for
UBTF

Expression for UBTF Gene

mRNA expression in normal human tissues for UBTF Gene

Protein differential expression in normal tissues from HIPED for UBTF Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.9) and Blymphocyte (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBTF Gene



SOURCE GeneReport for Unigene cluster for UBTF Gene Hs.89781

genes like me logo Genes that share expression patterns with UBTF: view

Protein tissue co-expression partners for UBTF Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UBTF Gene

Orthologs for UBTF Gene

This gene was present in the common ancestor of chordates.

Orthologs for UBTF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBTF 35
  • 94.08 (n)
  • 97.91 (a)
UBF 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubtf 35
  • 91.97 (n)
  • 99.26 (a)
Ubtf 16
Ubtf 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBTF 35
  • 97.28 (n)
  • 96.74 (a)
UBTF 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubtf 35
  • 90.49 (n)
  • 98.3 (a)
dog
(Canis familiaris)
Mammalia UBTF 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBTF 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBTF 35
  • 88.46 (n)
  • 96.59 (a)
-- 36
  • 89 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia UBTF 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10891 35
ubtf 35
  • 73.62 (n)
  • 78.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC52607 35
zebrafish
(Danio rerio)
Actinopterygii ubtf 35
  • 69.86 (n)
  • 69.41 (a)
zgc63557 35
ubtf 36
  • 66 (a)
OneToOne
Species with no ortholog for UBTF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UBTF Gene

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

Paralogs for UBTF Gene

Paralogs for UBTF Gene

genes like me logo Genes that share paralogs with UBTF: view

Variants for UBTF Gene

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

Variant ID Type Subtype PubMed ID
nsv833455 CNV Loss 17160897
nsv908269 CNV Loss 21882294
nsv908270 CNV Loss 21882294
nsv908271 CNV Loss 21882294
dgv529n67 CNV Gain 20364138
nsv908272 CNV Loss 21882294
nsv510713 CNV Loss 20534489
dgv3174n71 CNV Loss 21882294
esv29087 CNV Loss 19812545

Variation tolerance for UBTF Gene

Residual Variation Intolerance Score: 8.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBTF Gene

HapMap Linkage Disequilibrium report
UBTF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for UBTF Gene

Disorders for UBTF Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBTF Gene - From: DISEASES

Disorder Aliases PubMed IDs
gastric antral vascular ectasia
  • watermelon stomach
limited scleroderma
  • crest syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UBTF in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBTF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBTF
genes like me logo Genes that share disorders with UBTF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBTF Gene

Publications for UBTF Gene

  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. (PMID: 9126496) Matera A.G. … Chan E.K. (Genomics 1997) 2 3 23 67
  2. Nucleolar retention of a translational C/EBPalpha isoform stimulates rDNA transcription and cell size. (PMID: 20075868) MA1ller C. … Calkhoven C.F. (EMBO J. 2010) 3 23
  3. Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF. (PMID: 19527688) Lin C.I. … Yeh N.H. (Biochem. Biophys. Res. Commun. 2009) 3 23
  4. Asymmetrical distribution of the transcriptionally competent NORs in mitosis. (PMID: 18502146) KalmA!rovA! M. … Smirnov E. (J. Struct. Biol. 2008) 3 23
  5. RNA polymerase I-specific subunit CAST/hPAF49 has a role in the activation of transcription by upstream binding factor. (PMID: 16809778) Panov K.I. … Zomerdijk J.C.B.M. (Mol. Cell. Biol. 2006) 3 23

Products for UBTF Gene

Sources for UBTF Gene

Content