BRF1 BRF1 general transcription factor IIIB subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRF1provided by HGNC
Official Full Name: BRF1 general transcription factor IIIB subunitprovided by HGNC
Primary source: HGNC:HGNC:11551
See related: Ensembl:ENSG00000185024 MIM:604902; AllianceGenome:HGNC:11551
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRF; CFDS; hBRF; BRF-1; GTF3B; TAF3C; TAF3B2; TF3B90; TAFIII90; TFIIIB90; HEL-S-76p
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]
Expression: Ubiquitous expression in fat (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105209286..105315589, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99451085..99562978, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (105675623..105781926, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.
Title: A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.
TFIIB-related factor 1 is a nucleolar protein that promotes RNA polymerase I-directed transcription and tumour cell growth.
Title: TFIIB-related factor 1 is a nucleolar protein that promotes RNA polymerase I-directed transcription and tumour cell growth.
tRNA biogenesis and specific aminoacyl-tRNA synthetases regulate senescence stability under the control of mTOR.
Title: tRNA biogenesis and specific aminoacyl-tRNA synthetases regulate senescence stability under the control of mTOR.
Comprehensive Analysis of Prognostic and Genetic Signatures for General Transcription Factor III (GTF3) in Clinical Colorectal Cancer Patients Using Bioinformatics Approaches.
Title: Comprehensive Analysis of Prognostic and Genetic Signatures for General Transcription Factor III (GTF3) in Clinical Colorectal Cancer Patients Using Bioinformatics Approaches.
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Title: Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
Title: Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
The transcription factor Sp1 modulates RNA polymerase III gene transcription by controlling BRF1 and GTF3C2 expression in human cells.
Title: The transcription factor Sp1 modulates RNA polymerase III gene transcription by controlling BRF1 and GTF3C2 expression in human cells.
BRF1 accelerates prostate tumourigenesis and perturbs immune infiltration.
Title: BRF1 accelerates prostate tumourigenesis and perturbs immune infiltration.
Runx2 mediates the deregulation of Brf1 and Pol III genes and its abnormal expression predicts the worse prognosis of breast cancer.
Title: The significance of Runx2 mediating alcohol-induced Brf1 expression and RNA Pol III gene transcription.
Recent studies have demonstrated that Brf1 is overexpressed in most ER+ (estrogen receptor positive) cases of breast cancer and the change in cellular levels of Brf1 reflects the therapeutic efficacy and prognosis of this disease. It suggests that Brf1 may be a potential diagnosis biomarker and a therapeutic target of alcohol-associated breast cancer.
Title: Alcohol Intake and Abnormal Expression of Brf1 in Breast Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cerebellar-facial-dental syndrome MedGen: C4015495 OMIM: 616202 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35829 (e-PCR)
- UniSTS:27162

NoName (e-PCR)
- UniSTS:484123

G35414 (e-PCR)
- UniSTS:25449

G54046 (e-PCR)
- UniSTS:109428

G35352 (e-PCR)
- UniSTS:57016

RH79138 (e-PCR)
- UniSTS:53463

SGC31908 (e-PCR)
- UniSTS:62446

BRF1_3377 (e-PCR)
- UniSTS:462063

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase III general transcription initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase III type 3 promoter sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables TBP-class protein binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase III	IEA Inferred from Electronic Annotation more info
involved_in rRNA transcription	TAS Traceable Author Statement more info	PubMed
involved_in tRNA transcription	TAS Traceable Author Statement more info	PubMed
involved_in transcription by RNA polymerase III	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation at RNA polymerase III promoter	TAS Traceable Author Statement more info	PubMed
involved_in transcription preinitiation complex assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIIB complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIIB complex	NAS Non-traceable Author Statement more info	PubMed
part_of transcription preinitiation complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transcription factor IIIB 90 kDa subunit

Names: B - related factor 1; BRF1 RNA polymerase III transcription initiation factor subunit; 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)-associated factor 3C; TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2; TBP - associated factor, RNA polymerase III, 90kD; epididymis secretory sperm binding protein Li 76p; general transcription factor IIIB, 90kD subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029489.1 RefSeqGene

Range

19577..111292

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242786.2 → NP_001229715.1 transcription factor IIIB 90 kDa subunit isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant (1). The resulting isoform (4) is shorter at the N-terminus and contains an insert compared to isoform 1.

Source sequence(s)

AK294899, AL512355, BC071637

Consensus CDS

CCDS55951.1

UniProtKB/Swiss-Prot

Q92994

Related

ENSP00000388877.3, ENST00000440513.7

Conserved Domains (2) summary

COG1405
Location:1 → 151

SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]

pfam07741
Location:335 → 453

BRF1; Brf1-like TBP-binding domain
NM_001242787.2 → NP_001229716.1 transcription factor IIIB 90 kDa subunit isoform 5

See identical proteins and their annotated locations for NP_001229716.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant (1). The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK294899, AK295579, AL512355, BC071637

Consensus CDS

CCDS55950.1

UniProtKB/Swiss-Prot

Q92994

Related

ENSP00000329029.3, ENST00000327359.7

Conserved Domains (3) summary

pfam07741
Location:335 → 431

BRF1; Brf1-like TBP-binding domain

cd20553
Location:1 → 59

CYCLIN_TFIIIB90_rpt1; first cyclin box found in transcription factor IIIB 90 kDa subunit (TFIIIB90) and similar proteins

cd20554
Location:64 → 155

CYCLIN_TFIIIB90_rpt2; second cyclin box found in transcription factor IIIB 90 kDa subunit (TFIIIB90) and similar proteins
NM_001242788.2 → NP_001229717.1 transcription factor IIIB 90 kDa subunit isoform 6

See identical proteins and their annotated locations for NP_001229717.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL512355, BC016743, BC071637, BC086856, BX440529

Consensus CDS

CCDS55952.1

UniProtKB/Swiss-Prot

Q92994

Related

ENSP00000369269.2, ENST00000379937.6

Conserved Domains (2) summary

COG1405
Location:4 → 239

SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]

pfam07741
Location:423 → 519

BRF1; Brf1-like TBP-binding domain
NM_001242789.2 → NP_001229718.1 transcription factor IIIB 90 kDa subunit isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant (1). The resulting isoform 7 is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK096471, BC071637, BC086856

Consensus CDS

CCDS55949.1

UniProtKB/Swiss-Prot

Q92994

Related

ENSP00000389859.2, ENST00000446501.6

Conserved Domains (1) summary

pfam07741
Location:212 → 308

BRF1; Brf1-like TBP-binding domain
NM_001242790.2 → NP_001229719.1 transcription factor IIIB 90 kDa subunit isoform 8

See identical proteins and their annotated locations for NP_001229719.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (8) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL512355, BC016743, BX440529, N91109

Consensus CDS

CCDS55953.1

UniProtKB/TrEMBL

V9HVY2

Related

ENSP00000446707.1, ENST00000548421.2

Conserved Domains (1) summary

COG1405
Location:4 → 162

SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
NM_001519.4 → NP_001510.2 transcription factor IIIB 90 kDa subunit isoform 1

See identical proteins and their annotated locations for NP_001510.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL512355, BC016743, BC071637, BX440529, U75276

Consensus CDS

CCDS10001.1

UniProtKB/Swiss-Prot

B3KU36, B4DIG5, B7Z2N3, F5H5Z7, F8WA46, Q13223, Q3SYD9, Q5PR24, Q6IQ02, Q92994, Q96KX3, Q9HCW6, Q9HCW7, Q9HCW8

Related

ENSP00000448387.2, ENST00000547530.7

Conserved Domains (2) summary

COG1405
Location:4 → 266

SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]

pfam07741
Location:450 → 546

BRF1; Brf1-like TBP-binding domain
NM_145685.3 → NP_663718.1 transcription factor IIIB 90 kDa subunit isoform 3

See identical proteins and their annotated locations for NP_663718.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant (1). The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AJ297407, AL512355, BC071637

Consensus CDS

CCDS42001.1

Related

ENSP00000376340.4, ENST00000392557.8

Conserved Domains (2) summary

pfam07741
Location:246 → 342

BRF1; Brf1-like TBP-binding domain

cd20554
Location:1 → 66

CYCLIN_TFIIIB90_rpt2; second cyclin box found in transcription factor IIIB 90 kDa subunit (TFIIIB90) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

105209286..105315589 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431305.1 → XP_047287261.1 transcription factor IIIB 90 kDa subunit isoform X7
XM_047431304.1 → XP_047287260.1 transcription factor IIIB 90 kDa subunit isoform X6
XM_047431302.1 → XP_047287258.1 transcription factor IIIB 90 kDa subunit isoform X4
XM_011536673.3 → XP_011534975.1 transcription factor IIIB 90 kDa subunit isoform X3

Conserved Domains (4) summary

COG1405
Location:4 → 216

SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]

cd00043
Location:93 → 170

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

pfam07741
Location:404 → 496

BRF1; Brf1-like TBP-binding domain

pfam08271
Location:4 → 43

TF_Zn_Ribbon; TFIIB zinc-binding
XM_005267561.5 → XP_005267618.1 transcription factor IIIB 90 kDa subunit isoform X1

See identical proteins and their annotated locations for XP_005267618.1

Conserved Domains (5) summary

COG1405
Location:4 → 266

SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]

cd00043
Location:93 → 170

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

pfam07741
Location:453 → 545

BRF1; Brf1-like TBP-binding domain

pfam08271
Location:4 → 43

TF_Zn_Ribbon; TFIIB zinc-binding

cl00050
Location:187 → 260

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
XM_047431303.1 → XP_047287259.1 transcription factor IIIB 90 kDa subunit isoform X5
XM_047431310.1 → XP_047287266.1 transcription factor IIIB 90 kDa subunit isoform X12
XM_047431308.1 → XP_047287264.1 transcription factor IIIB 90 kDa subunit isoform X11
XM_047431307.1 → XP_047287263.1 transcription factor IIIB 90 kDa subunit isoform X9
XM_047431306.1 → XP_047287262.1 transcription factor IIIB 90 kDa subunit isoform X8
XM_024449553.2 → XP_024305321.1 transcription factor IIIB 90 kDa subunit isoform X13

Conserved Domains (1) summary

pfam07741
Location:212 → 308

BRF1; Brf1-like TBP-binding domain
XM_005267563.5 → XP_005267620.1 transcription factor IIIB 90 kDa subunit isoform X10

See identical proteins and their annotated locations for XP_005267620.1

Conserved Domains (2) summary

pfam07741
Location:246 → 342

BRF1; Brf1-like TBP-binding domain

cd20554
Location:1 → 66

CYCLIN_TFIIIB90_rpt2; second cyclin box found in transcription factor IIIB 90 kDa subunit (TFIIIB90) and similar proteins
XM_047431311.1 → XP_047287267.1 transcription factor IIIB 90 kDa subunit isoform X14
XM_011536672.4 → XP_011534974.1 transcription factor IIIB 90 kDa subunit isoform X2

Conserved Domains (5) summary

COG1405
Location:4 → 266

SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]

cd00043
Location:93 → 170

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

pfam07741
Location:454 → 546

BRF1; Brf1-like TBP-binding domain

pfam08271
Location:4 → 43

TF_Zn_Ribbon; TFIIB zinc-binding

cl00050
Location:187 → 260

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

99451085..99562978 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375914.1 → XP_054231889.1 transcription factor IIIB 90 kDa subunit isoform X7
XM_054375913.1 → XP_054231888.1 transcription factor IIIB 90 kDa subunit isoform X6
XM_054375911.1 → XP_054231886.1 transcription factor IIIB 90 kDa subunit isoform X4
XM_054375910.1 → XP_054231885.1 transcription factor IIIB 90 kDa subunit isoform X3
XM_054375908.1 → XP_054231883.1 transcription factor IIIB 90 kDa subunit isoform X1
XM_054375912.1 → XP_054231887.1 transcription factor IIIB 90 kDa subunit isoform X5
XM_054375918.1 → XP_054231893.1 transcription factor IIIB 90 kDa subunit isoform X11
XM_054375915.1 → XP_054231890.1 transcription factor IIIB 90 kDa subunit isoform X8
XM_054375919.1 → XP_054231894.1 transcription factor IIIB 90 kDa subunit isoform X12
XM_054375916.1 → XP_054231891.1 transcription factor IIIB 90 kDa subunit isoform X9
XM_054375920.1 → XP_054231895.1 transcription factor IIIB 90 kDa subunit isoform X13
XM_054375917.1 → XP_054231892.1 transcription factor IIIB 90 kDa subunit isoform X10
XM_054375921.1 → XP_054231896.1 transcription factor IIIB 90 kDa subunit isoform X14
XM_054375909.1 → XP_054231884.1 transcription factor IIIB 90 kDa subunit isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_145696.1: Suppressed sequence

Description

NM_145696.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.