BRF1 - BRF1 RNA polymerase III transcription initiation factor subunit Gene

Homo sapiens

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

Gene ID: 2972 | Gene type: protein coding

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	Reference	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

TFIIB

BRF1

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01616	BRF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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