BRF1
Transcription factor IIIB 90 kDa subunit
Also known as: BRF, GTF3B, hBRF, TAF3B2, TAF3C, TF3B_HUMAN, TFIIIB90
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92994
- Gene
- BRF1
- Ensembl
- ENSG00000185024
- Chromosome
- 14
- Canonical length
- 677 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
677 residues, UniProt reviewed canonical sequence.
>Q92994|BRF1
1 MTGRVCRGCG GTDIELDAAR GDAVCTACGS VLEDNIIVSE VQFVESSGGG SSAVGQFVSL
61 DGAGKTPTLG GGFHVNLGKE SRAQTLQNGR RHIHHLGNQL QLNQHCLDTA FNFFKMAVSR
121 HLTRGRKMAH VIAACLYLVC RTEGTPHMLL DLSDLLQVNV YVLGKTFLLL ARELCINAPA
181 IDPCLYIPRF AHLLEFGEKN HEVSMTALRL LQRMKRDWMH TGRRPSGLCG AALLVAARMH
241 DFRRTVKEVI SVVKVCESTL RKRLTEFEDT PTSQLTIDEF MKIDLEEECD PPSYTAGQRK
301 LRMKQLEQVL SKKLEEVEGE ISSYQDAIEI ELENSRPKAK GGLASLAKDG STEDTASSLC
361 GEEDTEDEEL EAAASHLNKD LYRELLGGAP GSSEAAGSPE WGGRPPALGS LLDPLPTAAS
421 LGISDSIREC ISSQSSDPKD ASGDGELDLS GIDDLEIDRY ILNESEARVK AELWMRENAE
481 YLREQREKEA RIAKEKELGI YKEHKPKKSC KRREPIQAST AREAIEKMLE QKKISSKINY
541 SVLRGLSSAG GGSPHREDAQ PEHSASARKL SRRRTPASRS GADPVTSVGK RLRPLVSTQP
601 AKKVATGEAL LPSSPTLGAE PARPQAVLVE SGPVSYHADE EADEEEPDEE DGEPCVSALQ
661 MMGSNDYGCD GDEDDGYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BRF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 27 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 27 nTPM
- cerebellum: 25 nTPM
- hypothalamus: 22 nTPM
- cerebral cortex: 22 nTPM
- midbrain: 20 nTPM
- hippocampal formation: 20 nTPM
Single-cell type
- epicardial cells: 96 nCPM
- hematopoietic stem cells: 82 nCPM
- oligodendrocytes: 59 nCPM
- pdcs: 59 nCPM
- retinal horizontal cells: 58 nCPM
- adrenal medulla cells: 53 nCPM
Immune cell
- non-classical monocyte: 4 nTPM
- plasmacytoid DC: 3.2 nTPM
- NK-cell: 2.5 nTPM
- eosinophil: 1.9 nTPM
- gdT-cell: 1.6 nTPM
- memory CD8 T-cell: 1.6 nTPM
Brain region
- white matter: 79 nTPM
- medulla oblongata: 73 nTPM
- pons: 67 nTPM
- thalamus: 59 nTPM
- midbrain: 58 nTPM
- cerebral cortex: 57 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BRF1.
Disease | AllUniProt
Conditions BRF1 is implicated in, by any mechanism.
- Cerebellofaciodental syndrome (CFDS) MIM:616202
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 261 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cerebellar-facial-dental syndrome
- Inborn genetic diseases
- See cases
- BRF1-related disorder
- Colorectal cancer
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.6
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.14
- DepMap mean gene effect
- -1.26
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA-templated transcription initiation
- rRNA transcription
- transcription by RNA polymerase III
- transcription initiation at RNA polymerase III promoter
- transcription preinitiation complex assembly
- tRNA transcription
Molecular functions
- RNA polymerase III general transcription initiation factor activity
- RNA polymerase III type 3 promoter sequence-specific DNA binding
- TBP-class protein binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Transcription factor TFIIB
- Zinc finger, TFIIB-type
- Transcription factor TFIIB, cyclin-like domain
- Cyclin-like domain
- Cyclin-like superfamily
- Transcription factor TFIIB repeat
- TFIIB zinc-binding
- Brf1, TBP-binding domain
- Brf1-like TBP-binding domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BRF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BRF1 as an antibody target. Whether an autoantibody or antibody against BRF1 could matter depends on whether native BRF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BRF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BRF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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