Format

Send to:

Choose Destination

BRF1 BRF1 RNA polymerase III transcription initiation factor subunit [ Homo sapiens (human) ]

Gene ID: 2972, updated on 15-Jun-2019

Summary

Official Symbol
BRF1provided by HGNC
Official Full Name
BRF1 RNA polymerase III transcription initiation factor subunitprovided by HGNC
Primary source
HGNC:HGNC:11551
See related
Ensembl:ENSG00000185024 MIM:604902
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

Genomic context

See BRF1 in Genome Data Viewer
Location:
14q32.33
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (105209286..105315577, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105675623..105781914, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene microRNA 6765 Neighboring gene jagged canonical Notch ligand 2 Neighboring gene nudix hydrolase 14 Neighboring gene BTB domain containing 6 Neighboring gene phosphofurin acidic cluster sorting protein 2 Neighboring gene ribosomal protein S20 pseudogene 33 Neighboring gene testis expressed 22

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cerebellofaciodental syndrome
MedGen: C4015495 OMIM: 616202 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42674, FLJ43034, MGC105048

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase III type 3 promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TBP-class protein binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA-templated transcription, initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase III preinitiation complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase III IEA
Inferred from Electronic Annotation
more info
 
rRNA transcription TAS
Traceable Author Statement
more info
PubMed 
tRNA transcription TAS
Traceable Author Statement
more info
PubMed 
transcription by RNA polymerase III TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase III promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIIB complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIIB complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
transcription factor IIIB 90 kDa subunit
Names
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)-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)

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

  1. NG_029489.1 RefSeqGene

    Range
    5001..111292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242786.1NP_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:1151
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
    pfam07741
    Location:335453
    BRF1; Brf1-like TBP-binding domain
  2. NM_001242787.1NP_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 (2) summary
    COG1405
    Location:1151
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
    pfam07741
    Location:335431
    BRF1; Brf1-like TBP-binding domain
  3. NM_001242788.2NP_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:4239
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
    pfam07741
    Location:423519
    BRF1; Brf1-like TBP-binding domain
  4. NM_001242789.1NP_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:212308
    BRF1; Brf1-like TBP-binding domain
  5. NM_001242790.2NP_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/Swiss-Prot
    Q92994
    UniProtKB/TrEMBL
    V9HVY2
    Related
    ENSP00000446707.1, ENST00000548421.2
    Conserved Domains (1) summary
    COG1405
    Location:4162
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
  6. NM_001519.4NP_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
    Q92994
    Related
    ENSP00000448387.2, ENST00000547530.7
    Conserved Domains (2) summary
    COG1405
    Location:4266
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
    pfam07741
    Location:450546
    BRF1; Brf1-like TBP-binding domain
  7. NM_145685.2NP_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, BC071637
    Consensus CDS
    CCDS42001.1
    UniProtKB/Swiss-Prot
    Q92994
    UniProtKB/TrEMBL
    A0A024R6P8
    Related
    ENSP00000376340.4, ENST00000392557.8
    Conserved Domains (2) summary
    pfam07741
    Location:246342
    BRF1; Brf1-like TBP-binding domain
    cl26792
    Location:162
    TF_Zn_Ribbon; TFIIB zinc-binding

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    105209286..105315577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536673.2XP_011534975.1  transcription factor IIIB 90 kDa subunit isoform X3

    Conserved Domains (4) summary
    COG1405
    Location:4216
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
    cd00043
    Location:93170
    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:404496
    BRF1; Brf1-like TBP-binding domain
    pfam08271
    Location:443
    TF_Zn_Ribbon; TFIIB zinc-binding
  2. XM_005267561.4XP_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:4266
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
    cd00043
    Location:93170
    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:453545
    BRF1; Brf1-like TBP-binding domain
    pfam08271
    Location:443
    TF_Zn_Ribbon; TFIIB zinc-binding
    cl00050
    Location:187260
    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 ...
  3. XM_024449553.1XP_024305321.1  transcription factor IIIB 90 kDa subunit isoform X5

    Conserved Domains (1) summary
    pfam07741
    Location:212308
    BRF1; Brf1-like TBP-binding domain
  4. XM_005267563.4XP_005267620.1  transcription factor IIIB 90 kDa subunit isoform X4

    See identical proteins and their annotated locations for XP_005267620.1

    UniProtKB/Swiss-Prot
    Q92994
    UniProtKB/TrEMBL
    A0A024R6P8
    Conserved Domains (2) summary
    pfam07741
    Location:246342
    BRF1; Brf1-like TBP-binding domain
    cl26792
    Location:162
    TF_Zn_Ribbon; TFIIB zinc-binding
  5. XM_011536672.3XP_011534974.1  transcription factor IIIB 90 kDa subunit isoform X2

    Conserved Domains (5) summary
    COG1405
    Location:4266
    SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
    cd00043
    Location:93170
    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:454546
    BRF1; Brf1-like TBP-binding domain
    pfam08271
    Location:443
    TF_Zn_Ribbon; TFIIB zinc-binding
    cl00050
    Location:187260
    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 ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
Support Center