BRF1 - BRF1 RNA polymerase III transcription initiation factor subunit Gene

Also Known as BRF; CFDS; hBRF; BRF-1; GTF3B; TAF3C; TAF3B2; TF3B90; TAFIII90; TFIIIB90; HEL-S-76p

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2972

About BRF1

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:105,209,286-105,315,589 (from NCBI)

This gene has 21 transcripts (splice variants), 219 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues.

Summary

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]

BRF1 Products (7)

mRNA Protein Name
NM_001242786.2 NP_001229715.1 transcription factor IIIB 90 kDa subunit isoform 4
NM_001242787.2 NP_001229716.1 transcription factor IIIB 90 kDa subunit isoform 5
NM_001242788.2 NP_001229717.1 transcription factor IIIB 90 kDa subunit isoform 6
NM_001242789.2 NP_001229718.1 transcription factor IIIB 90 kDa subunit isoform 7
NM_001242790.2 NP_001229719.1 transcription factor IIIB 90 kDa subunit isoform 8
NM_001519.4 NP_001510.2 transcription factor IIIB 90 kDa subunit isoform 1
NM_145685.3 NP_663718.1 transcription factor IIIB 90 kDa subunit isoform 3

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16713569 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BRF1 Protein Structure

TF_Zn_Ribbon

TF_Zn_Ribbon: TFIIB zinc-binding (5 - 44)

TFIIB

TFIIB: Transcription factor TFIIB repeat (93 - 161)

TFIIB

TFIIB: Transcription factor TFIIB repeat (187 - 260)

BRF1

BRF1: Brf1-like TBP-binding domain (453 - 546)

  • 0
  • 200
  • 400
  • 600
  • 677 a.a.
Protein Preferred Names Protein Names

transcription factor IIIB 90 kDa subunit

  • B - related factor 1

Related Diseases

Diseases Alias
Cerebellofaciodental Syndrome

  • Cerebellar-Facial-Dental Syndrome

  • CFDS
Inner Ear Disease

  • Labyrinthine Dysfunction

  • Diseases Of Inner Ear

  • Labyrinthine Disease

  • Abnormality Of The Inner Ear

  • Labyrinth Diseases

  • Labyrinthine Disorder

  • Nonfunctioning Labyrinth

  • Labyrinthine Loss Of Function

  • Labyrinthine Syndrome

  • Labyrinthine Disorder Nos
Primary Microcephaly

  • True Microcephaly

  • Microcephaly, Primary
Heart, Malformation Of
Heart Disease

  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure
Sensorineural Hearing Loss

  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01616 BRF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS16041 ZFP36L1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18914 Brf1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21270 Zfp36l1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25405 Brf1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27788 Zfp36l1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus BRF1 MGD MGI:1919558
Macaca mulatta BRF1 VGNC VGNC:84314
Felis catus BRF1 VGNC VGNC:60172
Rattus norvegicus BRF1 RGD RGD:1311158
Canis familiaris BRF1 VGNC VGNC:38523
Bos taurus BRF1 VGNC VGNC:26562
Others BRF1 NCBI