• Gene id: 2972

Gene Summary

• Gene Symbol: BRF1   Gene   UCSC   Ensembl
• Aliases: BRF, BRF-1, CFDS, GTF3B, HEL-S-76p, TAF3B2, TAF3C, TAFIII90, TF3B90, TFIIIB90, hBRF
• Gene name: BRF1 RNA polymerase III transcription initiation factor subunit
• Alternate names: transcription factor IIIB 90 kDa subunit, B - related factor 1, BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB, BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit, TATA box binding protein (TBP)-associate,
• Gene location: 14q32.33 (105315576: 105209285)     Exons: 23     NC_000014.9
• Gene summary(Entrez): 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 g
• OMIM: 606513

Protein Summary

• Protein general information: Q92994  
  • Name: Transcription factor IIIB 90 kDa subunit (TFIIIB90) (hTFIIIB90) (B related factor 1) (BRF 1) (hBRF) (TAF3B2) (TATA box binding protein associated factor, RNA polymerase III, subunit 2)
  • Length: 677  
  • Mass: 73840
• Sequence:

  MTGRVCRGCGGTDIELDAARGDAVCTACGSVLEDNIIVSEVQFVESSGGGSSAVGQFVSLDGAGKTPTLGGGFHV
  NLGKESRAQTLQNGRRHIHHLGNQLQLNQHCLDTAFNFFKMAVSRHLTRGRKMAHVIAACLYLVCRTEGTPHMLL
  DLSDLLQVNVYVLGKTFLLLARELCINAPAIDPCLYIPRFAHLLEFGEKNHEVSMTALRLLQRMKRDWMHTGRRP
  SGLCGAALLVAARMHDFRRTVKEVISVVKVCESTLRKRLTEFEDTPTSQLTIDEFMKIDLEEECDPPSYTAGQRK
  LRMKQLEQVLSKKLEEVEGEISSYQDAIEIELENSRPKAKGGLASLAKDGSTEDTASSLCGEEDTEDEELEAAAS
  HLNKDLYRELLGGAPGSSEAAGSPEWGGRPPALGSLLDPLPTAASLGISDSIRECISSQSSDPKDASGDGELDLS
  GIDDLEIDRYILNESEARVKAELWMRENAEYLREQREKEARIAKEKELGIYKEHKPKKSCKRREPIQASTAREAI
  EKMLEQKKISSKINYSVLRGLSSAGGGSPHREDAQPEHSASARKLSRRRTPASRSGADPVTSVGKRLRPLVSTQP
  AKKVATGEALLPSSPTLGAEPARPQAVLVESGPVSYHADEEADEEEPDEEDGEPCVSALQMMGSNDYGCDGDEDD
  GY

• Structural information:
  • Interpro: IPR011665  IPR013763  IPR036915  IPR000812  IPR013150   IPR013137  
  • Prosite: PS51134
  • CDD: cd00043
  • STRING: ENSP00000448323
• Other Databases: GeneCards:  BRF1  Malacards:  BRF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006352	DNA-templated transcription, initiation	IBA	biological process
GO:0001006	RNA polymerase III type 3 promoter sequence-specific DNA binding	IBA	molecular function
GO:0000126	transcription factor TFIIIB complex	IBA	cellular component
GO:0070898	RNA polymerase III preinitiation complex assembly	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006352	DNA-templated transcription, initiation	IEA	biological process
GO:0017025	TBP-class protein binding	IEA	molecular function
GO:0070897	transcription preinitiation complex assembly	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006384	transcription initiation from RNA polymerase III promoter	TAS	biological process
GO:0009303	rRNA transcription	TAS	biological process
GO:0006383	transcription by RNA polymerase III	TAS	biological process
GO:0009304	tRNA transcription	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045945	positive regulation of transcription by RNA polymerase III	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000126	transcription factor TFIIIB complex	NAS	cellular component

Diseases

Associated diseases	References
Cerebellofaciodental syndrome	KEGG:H02271
Cerebellofaciodental syndrome	KEGG:H02271
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq