UniProtKB - Q92994 (TF3B_HUMAN)
Protein
Transcription factor IIIB 90 kDa subunit
Gene
BRF1
Organism
Homo sapiens (Human)
Status
Functioni
General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 6 | ZincBy similarity | 1 | |
Metal bindingi | 25 | ZincBy similarity | 1 | |
Metal bindingi | 28 | ZincBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 2 – 33 | TFIIB-typePROSITE-ProRule annotationAdd BLAST | 32 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- RNA polymerase III type 3 promoter sequence-specific DNA binding Source: GO_Central
- TBP-class protein binding Source: InterPro
- transcription factor binding Source: GO_Central
GO - Biological processi
- DNA-templated transcription, initiation Source: GO_Central
- positive regulation of transcription by RNA polymerase III Source: Ensembl
- RNA polymerase III preinitiation complex assembly Source: GO_Central
- rRNA transcription Source: ProtInc
- transcription by RNA polymerase III Source: ProtInc
- transcription initiation from RNA polymerase III promoter Source: ProtInc
- tRNA transcription Source: ProtInc
Keywordsi
Molecular function | Activator |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q92994 |
Reactomei | R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation R-HSA-76061, RNA Polymerase III Transcription Initiation From Type 1 Promoter R-HSA-76066, RNA Polymerase III Transcription Initiation From Type 2 Promoter |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor IIIB 90 kDa subunitShort name: TFIIIB90 Short name: hTFIIIB90 Alternative name(s): B-related factor 1 Short name: BRF-1 Short name: hBRF TAF3B2 TATA box-binding protein-associated factor, RNA polymerase III, subunit 2 |
Gene namesi | Name:BRF1 Synonyms:BRF, GTF3B, TAF3B2, TAF3C |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000185024.16 |
HGNCi | HGNC:11551, BRF1 |
MIMi | 604902, gene |
neXtProti | NX_Q92994 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: GO_Central
Other locations
- transcription factor TFIIIB complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cerebellofaciodental syndrome (CFDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072710 | 223 | R → W in CFDS. 1 PublicationCorresponds to variant dbSNP:rs370270828EnsemblClinVar. | 1 | |
Natural variantiVAR_072711 | 226 | S → L in CFDS. 1 PublicationCorresponds to variant dbSNP:rs606231416EnsemblClinVar. | 1 | |
Natural variantiVAR_072712 | 259 | T → M in CFDS. 1 PublicationCorresponds to variant dbSNP:rs373957300EnsemblClinVar. | 1 | |
Natural variantiVAR_072713 | 292 | P → H in CFDS. 1 PublicationCorresponds to variant dbSNP:rs606231450EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Dwarfism, Mental retardationOrganism-specific databases
DisGeNETi | 2972 |
MalaCardsi | BRF1 |
MIMi | 616202, phenotype |
OpenTargetsi | ENSG00000185024 |
Orphaneti | 444072, Cerebellar-facial-dental syndrome |
PharmGKBi | PA164741296 |
Miscellaneous databases
Pharosi | Q92994, Tbio |
Polymorphism and mutation databases
BioMutai | BRF1 |
DMDMi | 20455319 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000119347 | 1 – 677 | Transcription factor IIIB 90 kDa subunitAdd BLAST | 677 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 365 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 450 | PhosphoserineCombined sources | 1 | |
Modified residuei | 553 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q92994 |
jPOSTi | Q92994 |
MassIVEi | Q92994 |
MaxQBi | Q92994 |
PaxDbi | Q92994 |
PeptideAtlasi | Q92994 |
PRIDEi | Q92994 |
ProteomicsDBi | 27032 30432 75658 [Q92994-1] 75659 [Q92994-2] 75660 [Q92994-3] 75661 [Q92994-4] 75662 [Q92994-5] 75663 [Q92994-6] |
PTM databases
iPTMneti | Q92994 |
PhosphoSitePlusi | Q92994 |
Expressioni
Gene expression databases
Bgeei | ENSG00000185024, Expressed in sural nerve and 183 other tissues |
ExpressionAtlasi | Q92994, baseline and differential |
Genevisiblei | Q92994, HS |
Organism-specific databases
HPAi | ENSG00000185024, Low tissue specificity |
Interactioni
Subunit structurei
GO - Molecular functioni
- TBP-class protein binding Source: InterPro
- transcription factor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 109227, 75 interactors |
CORUMi | Q92994 |
IntActi | Q92994, 11 interactors |
STRINGi | 9606.ENSP00000448323 |
Miscellaneous databases
RNActi | Q92994, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 91 – 172 | 1Add BLAST | 82 | |
Repeati | 185 – 269 | 2Add BLAST | 85 |
Sequence similaritiesi
Belongs to the TFIIB family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 2 – 33 | TFIIB-typePROSITE-ProRule annotationAdd BLAST | 32 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1598, Eukaryota |
GeneTreei | ENSGT00390000010349 |
HOGENOMi | CLU_010293_2_3_1 |
InParanoidi | Q92994 |
OMAi | DWMVMGR |
OrthoDBi | 412601at2759 |
PhylomeDBi | Q92994 |
TreeFami | TF324046 |
Family and domain databases
CDDi | cd00043, CYCLIN, 2 hits |
InterProi | View protein in InterPro IPR011665, BRF1_TBP-bd_dom IPR013763, Cyclin-like IPR036915, Cyclin-like_sf IPR000812, TFIIB IPR013150, TFIIB_cyclin IPR013137, Znf_TFIIB |
PANTHERi | PTHR11618, PTHR11618, 1 hit |
Pfami | View protein in Pfam PF07741, BRF1, 1 hit PF08271, TF_Zn_Ribbon, 1 hit PF00382, TFIIB, 2 hits |
PRINTSi | PR00685, TIFACTORIIB |
SMARTi | View protein in SMART SM00385, CYCLIN, 2 hits |
SUPFAMi | SSF47954, SSF47954, 2 hits |
PROSITEi | View protein in PROSITE PS51134, ZF_TFIIB, 1 hit |
s (9+)i Sequence
Sequence statusi: Complete.
This entry describes 9 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 9 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92994-1) [UniParc]FASTAAdd to basket
Also known as: hBRF1
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTGRVCRGCG GTDIELDAAR GDAVCTACGS VLEDNIIVSE VQFVESSGGG
60 70 80 90 100
SSAVGQFVSL DGAGKTPTLG GGFHVNLGKE SRAQTLQNGR RHIHHLGNQL
110 120 130 140 150
QLNQHCLDTA FNFFKMAVSR HLTRGRKMAH VIAACLYLVC RTEGTPHMLL
160 170 180 190 200
DLSDLLQVNV YVLGKTFLLL ARELCINAPA IDPCLYIPRF AHLLEFGEKN
210 220 230 240 250
HEVSMTALRL LQRMKRDWMH TGRRPSGLCG AALLVAARMH DFRRTVKEVI
260 270 280 290 300
SVVKVCESTL RKRLTEFEDT PTSQLTIDEF MKIDLEEECD PPSYTAGQRK
310 320 330 340 350
LRMKQLEQVL SKKLEEVEGE ISSYQDAIEI ELENSRPKAK GGLASLAKDG
360 370 380 390 400
STEDTASSLC GEEDTEDEEL EAAASHLNKD LYRELLGGAP GSSEAAGSPE
410 420 430 440 450
WGGRPPALGS LLDPLPTAAS LGISDSIREC ISSQSSDPKD ASGDGELDLS
460 470 480 490 500
GIDDLEIDRY ILNESEARVK AELWMRENAE YLREQREKEA RIAKEKELGI
510 520 530 540 550
YKEHKPKKSC KRREPIQAST AREAIEKMLE QKKISSKINY SVLRGLSSAG
560 570 580 590 600
GGSPHREDAQ PEHSASARKL SRRRTPASRS GADPVTSVGK RLRPLVSTQP
610 620 630 640 650
AKKVATGEAL LPSSPTLGAE PARPQAVLVE SGPVSYHADE EADEEEPDEE
660 670
DGEPCVSALQ MMGSNDYGCD GDEDDGY
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VS45 | F8VS45_HUMAN | Transcription factor IIIB 90 kDa su... | BRF1 | 234 | Annotation score: | ||
F8VWT8 | F8VWT8_HUMAN | Transcription factor IIIB 90 kDa su... | BRF1 | 155 | Annotation score: | ||
Q3SYD7 | Q3SYD7_HUMAN | BRF1 protein | BRF1 | 161 | Annotation score: | ||
F6VUY7 | F6VUY7_HUMAN | Transcription factor IIIB 90 kDa su... | BRF1 | 134 | Annotation score: | ||
A3KN61 | A3KN61_HUMAN | BRF1 protein | BRF1 | 184 | Annotation score: | ||
H0YIV6 | H0YIV6_HUMAN | Transcription factor IIIB 90 kDa su... | BRF1 | 185 | Annotation score: | ||
F8VWY1 | F8VWY1_HUMAN | Transcription factor IIIB 90 kDa su... | BRF1 | 45 | Annotation score: | ||
F8VXJ4 | F8VXJ4_HUMAN | Transcription factor IIIB 90 kDa su... | BRF1 | 63 | Annotation score: | ||
F8W123 | F8W123_HUMAN | Transcription factor IIIB 90 kDa su... | BRF1 | 14 | Annotation score: |
Sequence cautioni
The sequence AAC50170 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 88 | N → D in AAC50170 (PubMed:7624363).Curated | 1 | |
Sequence conflicti | 151 | D → V in AAC50170 (PubMed:7624363).Curated | 1 | |
Sequence conflicti | 224 | R → G in AAC50170 (PubMed:7624363).Curated | 1 | |
Sequence conflicti | 231 | A → G in AAC50170 (PubMed:7624363).Curated | 1 | |
Sequence conflicti | 339 – 340 | AK → R in AAC50170 (PubMed:7624363).Curated | 2 | |
Sequence conflicti | 437 | D → N in BAH11919 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 446 | E → G in BAG53298 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 594 | P → T in AAC50170 (PubMed:7624363).Curated | 1 | |
Sequence conflicti | 618 | G → E in AAC50170 (PubMed:7624363).Curated | 1 | |
Sequence conflicti | 640 | E → G in BAG53298 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072710 | 223 | R → W in CFDS. 1 PublicationCorresponds to variant dbSNP:rs370270828EnsemblClinVar. | 1 | |
Natural variantiVAR_072711 | 226 | S → L in CFDS. 1 PublicationCorresponds to variant dbSNP:rs606231416EnsemblClinVar. | 1 | |
Natural variantiVAR_072712 | 259 | T → M in CFDS. 1 PublicationCorresponds to variant dbSNP:rs373957300EnsemblClinVar. | 1 | |
Natural variantiVAR_072713 | 292 | P → H in CFDS. 1 PublicationCorresponds to variant dbSNP:rs606231450EnsemblClinVar. | 1 | |
Natural variantiVAR_035723 | 542 | V → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs371981699Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045045 | 1 – 238 | Missing in isoform 9. 1 PublicationAdd BLAST | 238 | |
Alternative sequenceiVSP_006396 | 1 – 204 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 204 | |
Alternative sequenceiVSP_044244 | 1 – 115 | Missing in isoform 7 and isoform 8. 1 PublicationAdd BLAST | 115 | |
Alternative sequenceiVSP_014697 | 63 – 89 | Missing in isoform 5. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_006399 | 159 – 242 | NVYVL…RMHDF → DSLRPASFPTWGCDLGVVTR VVTGVYPRCASRISVAGLCC LPSQEVLVCRMRGLHDMGVT VRDLWECGSPWQEGHLPMLG TVGC in isoform 4. 1 PublicationAdd BLAST | 84 | |
Alternative sequenceiVSP_043835 | 159 – 208 | NVYVL…SMTAL → DSLRPASFPTWGCDLGVVTR VVTGVYPRCLHASQWPVCAA CPVRKFWSVG in isoform 6. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_043836 | 209 – 677 | Missing in isoform 6. 1 PublicationAdd BLAST | 469 | |
Alternative sequenceiVSP_006400 | 243 – 677 | Missing in isoform 4. 1 PublicationAdd BLAST | 435 | |
Alternative sequenceiVSP_006397 | 293 – 338 | SYTAG…NSRPK → IEEGGQTEAREPPQASSWEG PSTTRRRSQLWHGCPGCGRG GFTLCP in isoform 2. 2 PublicationsAdd BLAST | 46 | |
Alternative sequenceiVSP_006398 | 339 – 677 | Missing in isoform 2. 2 PublicationsAdd BLAST | 339 | |
Alternative sequenceiVSP_045046 | 459 | R → RRDLSMPRCAKAKSQPHFPV LAQ in isoform 8. 1 Publication | 1 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000327359; ENSP00000329029; ENSG00000185024 [Q92994-7] ENST00000379937; ENSP00000369269; ENSG00000185024 [Q92994-5] ENST00000392557; ENSP00000376340; ENSG00000185024 [Q92994-3] ENST00000440513; ENSP00000388877; ENSG00000185024 [Q92994-8] ENST00000446501; ENSP00000389859; ENSG00000185024 [Q92994-9] ENST00000547530; ENSP00000448387; ENSG00000185024 [Q92994-1] ENST00000548421; ENSP00000446707; ENSG00000185024 [Q92994-6] |
GeneIDi | 2972 |
KEGGi | hsa:2972 |
UCSCi | uc001yql.3, human [Q92994-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
SMRi | Q92994 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109227, 75 interactors |
CORUMi | Q92994 |
IntActi | Q92994, 11 interactors |
STRINGi | 9606.ENSP00000448323 |
PTM databases
iPTMneti | Q92994 |
PhosphoSitePlusi | Q92994 |
Polymorphism and mutation databases
BioMutai | BRF1 |
DMDMi | 20455319 |
Proteomic databases
EPDi | Q92994 |
jPOSTi | Q92994 |
MassIVEi | Q92994 |
MaxQBi | Q92994 |
PaxDbi | Q92994 |
PeptideAtlasi | Q92994 |
PRIDEi | Q92994 |
ProteomicsDBi | 27032 30432 75658 [Q92994-1] 75659 [Q92994-2] 75660 [Q92994-3] 75661 [Q92994-4] 75662 [Q92994-5] 75663 [Q92994-6] |
Protocols and materials databases
Antibodypediai | 14980, 243 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 2972 |
DisGeNETi | 2972 |
EuPathDBi | HostDB:ENSG00000185024.16 |
GeneCardsi | BRF1 |
HGNCi | HGNC:11551, BRF1 |
HPAi | ENSG00000185024, Low tissue specificity |
MalaCardsi | BRF1 |
MIMi | 604902, gene 616202, phenotype |
neXtProti | NX_Q92994 |
OpenTargetsi | ENSG00000185024 |
Orphaneti | 444072, Cerebellar-facial-dental syndrome |
PharmGKBi | PA164741296 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1598, Eukaryota |
GeneTreei | ENSGT00390000010349 |
HOGENOMi | CLU_010293_2_3_1 |
InParanoidi | Q92994 |
OMAi | DWMVMGR |
OrthoDBi | 412601at2759 |
PhylomeDBi | Q92994 |
TreeFami | TF324046 |
Enzyme and pathway databases
PathwayCommonsi | Q92994 |
Reactomei | R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation R-HSA-76061, RNA Polymerase III Transcription Initiation From Type 1 Promoter R-HSA-76066, RNA Polymerase III Transcription Initiation From Type 2 Promoter |
Miscellaneous databases
BioGRID-ORCSi | 2972, 731 hits in 851 CRISPR screens |
ChiTaRSi | BRF1, human |
GeneWikii | BRF1_(gene) |
GenomeRNAii | 2972 |
Pharosi | Q92994, Tbio |
PROi | PR:Q92994 |
RNActi | Q92994, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185024, Expressed in sural nerve and 183 other tissues |
ExpressionAtlasi | Q92994, baseline and differential |
Genevisiblei | Q92994, HS |
Family and domain databases
CDDi | cd00043, CYCLIN, 2 hits |
InterProi | View protein in InterPro IPR011665, BRF1_TBP-bd_dom IPR013763, Cyclin-like IPR036915, Cyclin-like_sf IPR000812, TFIIB IPR013150, TFIIB_cyclin IPR013137, Znf_TFIIB |
PANTHERi | PTHR11618, PTHR11618, 1 hit |
Pfami | View protein in Pfam PF07741, BRF1, 1 hit PF08271, TF_Zn_Ribbon, 1 hit PF00382, TFIIB, 2 hits |
PRINTSi | PR00685, TIFACTORIIB |
SMARTi | View protein in SMART SM00385, CYCLIN, 2 hits |
SUPFAMi | SSF47954, SSF47954, 2 hits |
PROSITEi | View protein in PROSITE PS51134, ZF_TFIIB, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TF3B_HUMAN | |
Accessioni | Q92994Primary (citable) accession number: Q92994 Secondary accession number(s): B3KU36 Q9HCW8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2002 |
Last sequence update: | February 1, 1997 | |
Last modified: | December 2, 2020 | |
This is version 180 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations