BRF1 gene

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Cerebellofaciodental syndrome

From UniProt:

Cerebellofaciodental syndrome (CFDS): 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. [MIM:616202]

Cytogenetic Location: 14q, which is the long (q) arm of chromosome 14

Molecular Location: base pairs 105,209,286 to 105,315,577 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q, which is the long (q) arm of chromosome 14
  • BRF
  • BRF-1
  • CFDS
  • GTF3B
  • hBRF
  • HEL-S-76p
  • TAF3B2
  • TAF3C
  • TAFIII90
  • TF3B90
  • TFIIIB90