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

Aliases for BRF1 Gene

Aliases for BRF1 Gene

  • BRF1, RNA Polymerase III Transcription Initiation Factor 90 KDa Subunit 2 3 5
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase III, GTF3B Subunit 2 2 3
  • TFIIIB90 3 4
  • TAF3B2 3 4
  • GTF3B 3 4
  • TAF3C 3 4
  • BRF-1 3 4
  • HBRF 3 4
  • BRF 3 4
  • BRF1 Homolog, Subunit Of RNA Polymerase III Transcription Initiation Factor IIIB (S. Cerevisiae) 2
  • BRF1 Homolog, Subunit Of RNA Polymerase III Transcription Initiation Factor IIIB 3
  • TATA Box-Binding Protein-Associated Factor, RNA Polymerase III, Subunit 2 4
  • TATA Box Binding Protein (TBP)-Associated Factor 3C 3
  • TBP - Associated Factor, RNA Polymerase III, 90kD 3
  • Epididymis Secretory Sperm Binding Protein Li 76p 3
  • General Transcription Factor IIIB, 90kD Subunit 3
  • Transcription Factor IIIB 90 KDa Subunit 3
  • B - Related Factor 1 3
  • B-Related Factor 1 4
  • HEL-S-76p 3
  • HTFIIIB90 4
  • TAFIII90 3
  • TF3B90 3
  • CFDS 3

External Ids for BRF1 Gene

Previous HGNC Symbols for BRF1 Gene

  • TAF3B2
  • TAF3C
  • GTF3B

Previous GeneCards Identifiers for BRF1 Gene

  • GC14M103054
  • GC14M099666
  • GC14M103647
  • GC14M104746
  • GC14M105675
  • GC14M085867

Summaries for BRF1 Gene

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 Cerebellofaciodental Syndrome and Adult Syndrome. Among its related pathways are RNA Polymerase III Transcription Initiation and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include TBP-class protein binding.

UniProtKB/Swiss-Prot for BRF1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRF1 Gene

Genomics for BRF1 Gene

Regulatory Elements for BRF1 Gene

Enhancers for BRF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around BRF1 on UCSC Golden Path with GeneCards custom track

Promoters for BRF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BRF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BRF1 Gene

Chromosome:
14
Start:
105,209,286 bp from pter
End:
105,315,589 bp from pter
Size:
106,304 bases
Orientation:
Minus strand

Genomic View for BRF1 Gene

Genes around BRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRF1 Gene

Proteins for BRF1 Gene

  • Protein details for BRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92994-TF3B_HUMAN
    Recommended name:
    Transcription factor IIIB 90 kDa subunit
    Protein Accession:
    Q92994
    Secondary Accessions:
    • B3KU36
    • B4DIG5
    • B7Z2N3
    • F5H5Z7
    • F8WA46
    • Q13223
    • Q3SYD9
    • Q5PR24
    • Q6IQ02
    • Q96KX3
    • Q9HCW6
    • Q9HCW7
    • Q9HCW8

    Protein attributes for BRF1 Gene

    Size:
    677 amino acids
    Molecular mass:
    73840 Da
    Quaternary structure:
    • TFIIIB comprises at least the TATA-binding protein (TBP) and the B-related factor 1 (BRF1/TFIIIB90). Interacts with BDP1.
    SequenceCaution:
    • Sequence=AAC50170.1; Type=Frameshift; Positions=344, 405; Evidence={ECO:0000305};

    Alternative splice isoforms for BRF1 Gene

neXtProt entry for BRF1 Gene

Post-translational modifications for BRF1 Gene

  • Ubiquitination at Lys 537
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BRF1 Gene

Domains & Families for BRF1 Gene

Gene Families for BRF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92994

UniProtKB/Swiss-Prot:

TF3B_HUMAN :
  • Belongs to the TFIIB family.
  • Contains 1 TFIIB-type zinc finger.
Family:
  • Belongs to the TFIIB family.
Similarity:
  • Contains 1 TFIIB-type zinc finger.
genes like me logo Genes that share domains with BRF1: view

Function for BRF1 Gene

Molecular function for BRF1 Gene

GENATLAS Biochemistry:
butyrate response factor 1,member of the immediate early response gene family, specifying a putative nuclear transcription factor
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for BRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0017025 TBP-class protein binding IEA --
genes like me logo Genes that share ontologies with BRF1: view
genes like me logo Genes that share phenotypes with BRF1: view

Human Phenotype Ontology for BRF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for BRF1 Gene

miRTarBase miRNAs that target BRF1

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BRF1 Gene

Localization for BRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BRF1 Gene COMPARTMENTS Subcellular localization image for BRF1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for BRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000126 transcription factor TFIIIB complex NAS 8943358
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with BRF1: view

Pathways & Interactions for BRF1 Gene

genes like me logo Genes that share pathways with BRF1: view

Interacting Proteins for BRF1 Gene

Gene Ontology (GO) - Biological Process for BRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006383 transcription from RNA polymerase III promoter TAS 8943358
GO:0006384 transcription initiation from RNA polymerase III promoter IEA --
GO:0009303 rRNA transcription TAS 7624363
GO:0009304 tRNA transcription TAS 8943358
genes like me logo Genes that share ontologies with BRF1: view

No data available for SIGNOR curated interactions for BRF1 Gene

Drugs & Compounds for BRF1 Gene

(1) Drugs for BRF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for BRF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BRF1: view

Transcripts for BRF1 Gene

Unigene Clusters for BRF1 Gene

BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae):
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BRF1 Gene

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: - - - - - - - - -
SP6: - - - -
SP7: - - -
SP8: - - - -
SP9: - -
SP10:
SP11:
SP12:
SP13: - - -
SP14: - -
SP15: - -

ExUns: 15d · 15e ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: -
SP2: -
SP3: -
SP4: -
SP5: - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for BRF1 Gene

GeneLoc Exon Structure for
BRF1
ECgene alternative splicing isoforms for
BRF1

Expression for BRF1 Gene

mRNA expression in normal human tissues for BRF1 Gene

Protein differential expression in normal tissues from HIPED for BRF1 Gene

This gene is overexpressed in Plasma (30.4), Heart (20.4), and Retina (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BRF1 Gene:

BRF1

SOURCE GeneReport for Unigene cluster for BRF1 Gene:

Hs.424484
genes like me logo Genes that share expression patterns with BRF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BRF1 Gene

Orthologs for BRF1 Gene

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

Orthologs for BRF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BRF1 34
  • 82.81 (n)
  • 86.28 (a)
BRF1 35
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRF1 34
  • 85.62 (n)
  • 88.95 (a)
BRF1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brf1 34
  • 83.33 (n)
  • 89.94 (a)
Brf1 16
Brf1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brf1 34
  • 79.84 (n)
  • 84.43 (a)
oppossum
(Monodelphis domestica)
Mammalia BRF1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRF1 35
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BRF1 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRF1 34
  • 72.12 (n)
  • 78.08 (a)
BRF1 35
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRF1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brf1 34
  • 69.55 (n)
  • 74.39 (a)
zebrafish
(Danio rerio)
Actinopterygii brf1b 34
  • 66.52 (n)
  • 68.16 (a)
wufi40c10 34
brf1b 35
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Brf 36
  • 56 (a)
Brf 34
  • 55.47 (n)
  • 51.63 (a)
Brf 35
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004233 34
  • 54.68 (n)
  • 48.96 (a)
worm
(Caenorhabditis elegans)
Secernentea brf-1 36
  • 48 (a)
brf-1 34
  • 45.85 (n)
  • 44.94 (a)
brf-1 35
  • 32 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL213W 34
  • 49.54 (n)
  • 38.74 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05434g 34
  • 43.75 (n)
  • 37.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BRF1 34
  • 48.06 (n)
  • 44.18 (a)
BRF1 35
  • 30 (a)
OneToOne
BRF1 37
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes brf1 34
  • 46.28 (n)
  • 44.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6827 35
  • 46 (a)
OneToOne
Species where no ortholog for BRF1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for BRF1 Gene

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

Paralogs for BRF1 Gene

No data available for Paralogs for BRF1 Gene

Variants for BRF1 Gene

Sequence variations from dbSNP and Humsavar for BRF1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs371981699 A colorectal cancer sample 105,217,692(+) GAGCA(C/T)GCTAT reference, missense
rs370270828 Cerebellofaciodental syndrome (CFDS) 105,241,292(+) GCGCC(A/G)GCCTG intron-variant, reference, missense
rs606231416 Cerebellofaciodental syndrome (CFDS) 105,241,282(-) CCCCT(C/T)GGGCC intron-variant, reference, missense
rs373957300 Cerebellofaciodental syndrome (CFDS) 105,228,832(+) GCAGC(A/G)TGGAC reference, missense
rs606231450 Cerebellofaciodental syndrome (CFDS) 105,226,674(-) CCCCC(A/C)CTCGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BRF1 Gene

Variant ID Type Subtype PubMed ID
dgv1337e59 CNV duplication 20981092
dgv1338e59 CNV duplication 20981092
dgv1339e59 CNV duplication 20981092
dgv267n27 CNV loss 19166990
dgv26n68 CNV loss 17160897
dgv284e201 CNV deletion 23290073
dgv3977n54 CNV loss 21841781
dgv3983n54 CNV loss 21841781
dgv3984n54 CNV gain 21841781
dgv3985n54 CNV gain+loss 21841781
esv1010073 CNV gain 20482838
esv1158096 CNV deletion 17803354
esv1410440 CNV deletion 17803354
esv21762 CNV gain+loss 19812545
esv2265156 CNV deletion 18987734
esv22709 CNV gain+loss 19812545
esv24753 CNV loss 19812545
esv2749282 CNV deletion 23290073
esv2749283 CNV deletion 23290073
esv2749284 CNV deletion 23290073
esv2749286 CNV deletion 23290073
esv2749288 CNV deletion 23290073
esv2749290 CNV deletion 23290073
esv2749291 CNV deletion 23290073
esv2749292 CNV deletion 23290073
esv2760014 CNV loss 17122850
esv2953 CNV loss 18987735
esv29986 CNV loss 17803354
esv3329450 CNV duplication 20981092
esv3337370 CNV duplication 20981092
esv3439820 CNV duplication 20981092
esv3449332 CNV duplication 20981092
esv3552121 CNV deletion 23714750
esv3552124 CNV deletion 23714750
esv3635638 CNV loss 21293372
esv3635639 CNV gain 21293372
esv3635640 CNV gain 21293372
esv3635641 CNV gain 21293372
esv3635643 CNV gain 21293372
nsv1052190 CNV gain 25217958
nsv1054190 CNV gain 25217958
nsv1054574 CNV loss 25217958
nsv1070247 CNV deletion 25765185
nsv1070668 CNV deletion 25765185
nsv1070669 CNV deletion 25765185
nsv1070670 CNV deletion 25765185
nsv1075869 CNV duplication 25765185
nsv1112657 CNV deletion 24896259
nsv1113678 CNV deletion 24896259
nsv1115471 CNV duplication 24896259
nsv1116759 CNV tandem duplication 24896259
nsv1132387 CNV duplication 24896259
nsv1143762 CNV deletion 24896259
nsv1143763 CNV deletion 24896259
nsv1144716 CNV deletion 24896259
nsv1146619 CNV deletion 26484159
nsv1154053 CNV duplication 26484159
nsv1160204 CNV duplication 26073780
nsv1439 CNV insertion 18451855
nsv456458 CNV loss 19166990
nsv470679 CNV loss 18288195
nsv510651 CNV deletion 20534489
nsv511535 CNV gain 21212237
nsv517055 CNV gain+loss 19592680
nsv566150 CNV loss 21841781
nsv566185 CNV loss 21841781
nsv566186 CNV loss 21841781
nsv566187 CNV gain 21841781
nsv566188 CNV loss 21841781
nsv566189 CNV gain 21841781
nsv566190 CNV gain 21841781
nsv566195 CNV loss 21841781
nsv566198 CNV gain 21841781
nsv827085 CNV gain 20364138
nsv832889 CNV loss 17160897
nsv832890 CNV loss 17160897
nsv9175 CNV gain 18304495
nsv9176 CNV gain+loss 18304495
nsv952279 CNV deletion 24416366
nsv952280 CNV deletion 24416366

Variation tolerance for BRF1 Gene

Residual Variation Intolerance Score: 5.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 31.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRF1 Gene

Human Gene Mutation Database (HGMD)
BRF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRF1 Gene

Disorders for BRF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BRF1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebellofaciodental syndrome
  • cerebellar-facial-dental syndrome
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
chronic rhinitis
  • rhinitis - chronic
- elite association - COSMIC cancer census association via MalaCards
Search BRF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TF3B_HUMAN
  • Cerebellofaciodental syndrome (CFDS) [MIM:616202]: An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. {ECO:0000269 PubMed:25561519}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BRF1

Genetic Association Database (GAD)
BRF1
Human Genome Epidemiology (HuGE) Navigator
BRF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRF1
genes like me logo Genes that share disorders with BRF1: view

No data available for Genatlas for BRF1 Gene

Publications for BRF1 Gene

  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. (PMID: 8943358) Mital R. … Hernandez N. (Mol. Cell. Biol. 1996) 2 3 4 22 65
  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. (PMID: 7624363) Wang Z. … Roeder R.G. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 3 4 65
  3. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. (PMID: 25561519) Borck G. … Kubisch C. (Genome Res. 2015) 3 4 65
  4. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C. … Soranzo N. (Nature 2011) 3 46 65
  5. Cellular senescence bypass screen identifies new putative tumor suppressor genes. (PMID: 17968325) Leal J.F. … Carnero A. (Oncogene 2008) 3 22 65

Products for BRF1 Gene

Sources for BRF1 Gene

Content