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

    Gene ID: 2972, updated on 28-Oct-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BRF1 in Genome Data Viewer
    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_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105621328-105621926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105629549-105630296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105633835-105634334 Neighboring gene microRNA 6765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105636983-105637819 Neighboring gene jagged canonical Notch ligand 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105658307-105659088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105662217-105662998 Neighboring gene nudix hydrolase 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105662999-105663780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105714496-105715286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105716078-105716867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105740537-105741440 Neighboring gene BTB domain containing 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105749364-105749905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105750449-105750989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105752260-105753158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9144 Neighboring gene uncharacterized LOC124903409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6225 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105778446-105778606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105781451-105782102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105789257-105789766 Neighboring gene phosphofurin acidic cluster sorting protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105794355-105794864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105798394-105799279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105803897-105804562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105804563-105805228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105808627-105809468 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105812556-105812745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105819060-105819589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6230 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105837257-105837460 Neighboring gene ribosomal protein S20 pseudogene 33 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105856860-105857360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105857361-105857861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105864965-105865475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105865476-105865986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105877939-105878442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105878443-105878945 Neighboring gene testis expressed 22

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42674, FLJ43034, MGC105048

    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 
    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

    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)

    NEW Try the new Transcript table

    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
      19577..111292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242786.2NP_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_001242787.2NP_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:335431
      BRF1; Brf1-like TBP-binding domain
      cd20553
      Location:159
      CYCLIN_TFIIIB90_rpt1; first cyclin box found in transcription factor IIIB 90 kDa subunit (TFIIIB90) and similar proteins
      cd20554
      Location:64155
      CYCLIN_TFIIIB90_rpt2; second cyclin box found in transcription factor IIIB 90 kDa subunit (TFIIIB90) and similar proteins
    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_001242789.2NP_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/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
      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:4266
      SUA7; Transcription initiation factor TFIIIB, Brf1 subunit/Transcription initiation factor TFIIB [Transcription]
      pfam07741
      Location:450546
      BRF1; Brf1-like TBP-binding domain
    7. NM_145685.3NP_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:246342
      BRF1; Brf1-like TBP-binding domain
      cd20554
      Location:166
      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

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105209286..105315589 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431305.1XP_047287261.1  transcription factor IIIB 90 kDa subunit isoform X7

    2. XM_047431304.1XP_047287260.1  transcription factor IIIB 90 kDa subunit isoform X6

    3. XM_047431302.1XP_047287258.1  transcription factor IIIB 90 kDa subunit isoform X4

    4. XM_011536673.3XP_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
    5. XM_005267561.5XP_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 ...
    6. XM_047431303.1XP_047287259.1  transcription factor IIIB 90 kDa subunit isoform X5

    7. XM_047431310.1XP_047287266.1  transcription factor IIIB 90 kDa subunit isoform X12

    8. XM_047431308.1XP_047287264.1  transcription factor IIIB 90 kDa subunit isoform X11

    9. XM_047431307.1XP_047287263.1  transcription factor IIIB 90 kDa subunit isoform X9

    10. XM_047431306.1XP_047287262.1  transcription factor IIIB 90 kDa subunit isoform X8

    11. XM_024449553.2XP_024305321.1  transcription factor IIIB 90 kDa subunit isoform X13

      Conserved Domains (1) summary
      pfam07741
      Location:212308
      BRF1; Brf1-like TBP-binding domain
    12. XM_005267563.5XP_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:246342
      BRF1; Brf1-like TBP-binding domain
      cd20554
      Location:166
      CYCLIN_TFIIIB90_rpt2; second cyclin box found in transcription factor IIIB 90 kDa subunit (TFIIIB90) and similar proteins
    13. XM_047431311.1XP_047287267.1  transcription factor IIIB 90 kDa subunit isoform X14

    14. XM_011536672.4XP_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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99451085..99562978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375914.1XP_054231889.1  transcription factor IIIB 90 kDa subunit isoform X7

    2. XM_054375913.1XP_054231888.1  transcription factor IIIB 90 kDa subunit isoform X6

    3. XM_054375911.1XP_054231886.1  transcription factor IIIB 90 kDa subunit isoform X4

    4. XM_054375910.1XP_054231885.1  transcription factor IIIB 90 kDa subunit isoform X3

    5. XM_054375908.1XP_054231883.1  transcription factor IIIB 90 kDa subunit isoform X1

    6. XM_054375912.1XP_054231887.1  transcription factor IIIB 90 kDa subunit isoform X5

    7. XM_054375918.1XP_054231893.1  transcription factor IIIB 90 kDa subunit isoform X11

    8. XM_054375915.1XP_054231890.1  transcription factor IIIB 90 kDa subunit isoform X8

    9. XM_054375919.1XP_054231894.1  transcription factor IIIB 90 kDa subunit isoform X12

    10. XM_054375916.1XP_054231891.1  transcription factor IIIB 90 kDa subunit isoform X9

    11. XM_054375920.1XP_054231895.1  transcription factor IIIB 90 kDa subunit isoform X13

    12. XM_054375917.1XP_054231892.1  transcription factor IIIB 90 kDa subunit isoform X10

    13. XM_054375921.1XP_054231896.1  transcription factor IIIB 90 kDa subunit isoform X14

    14. XM_054375909.1XP_054231884.1  transcription factor IIIB 90 kDa subunit isoform X2

    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.