The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during... See more...

Aliases for BDP1 Gene

Aliases for BDP1 Gene

  • B Double Prime 1, Subunit Of RNA Polymerase III Transcription Initiation Factor IIIB 2 3 5
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase III, GTF3B Subunit 1 2 3
  • Transcription Factor TFIIIB Component B'' Homolog 3 4
  • Transcription Factor-Like Nuclear Regulator 3 4
  • Transcription Factor IIIB 150 3 4
  • TFIIIB150 3 4
  • TFNR 3 4
  • RNA Polymerase III Transcription Initiation Factor B'' 3
  • HSA238520 3
  • TFIIIB'' 3
  • TFIIIB90 3
  • KIAA1241 4
  • KIAA1689 4
  • DFNB112 3
  • TAF3B1 3
  • TFC5 3

External Ids for BDP1 Gene

Previous HGNC Symbols for BDP1 Gene

  • TFNR
  • TAF3B1

Previous GeneCards Identifiers for BDP1 Gene

  • GC05P069557
  • GC05P070984
  • GC05P070790
  • GC05P070835
  • GC05P070787
  • GC05P065957

Summaries for BDP1 Gene

Entrez Gene Summary for BDP1 Gene

  • The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]

GeneCards Summary for BDP1 Gene

BDP1 (B Double Prime 1, Subunit Of RNA Polymerase III Transcription Initiation Factor IIIB) is a Protein Coding gene. Diseases associated with BDP1 include Deafness, Autosomal Recessive 112 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and RNA Polymerase III Transcription Initiation. Gene Ontology (GO) annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot Summary for BDP1 Gene

  • General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site.

Gene Wiki entry for BDP1 Gene

Additional gene information for BDP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BDP1 Gene

Genomics for BDP1 Gene

GeneHancer (GH) Regulatory Elements for BDP1 Gene

Promoters and enhancers for BDP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BDP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BDP1

Top Transcription factor binding sites by QIAGEN in the BDP1 gene promoter:
  • C/EBPbeta
  • CUTL1
  • GATA-1
  • GATA-2
  • GATA-3
  • GATA-6
  • HFH-1
  • NF-1
  • NF-1/L
  • NF-kappaB1

Genomic Locations for BDP1 Gene

Genomic Locations for BDP1 Gene
chr5:71,455,383-71,581,062
(GRCh38/hg38)
Size:
125,680 bases
Orientation:
Plus strand
chr5:70,751,442-70,863,649
(GRCh37/hg19)
Size:
112,208 bases
Orientation:
Plus strand

Genomic View for BDP1 Gene

Genes around BDP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BDP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BDP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BDP1 Gene

Proteins for BDP1 Gene

  • Protein details for BDP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6H8Y1-BDP1_HUMAN
    Recommended name:
    Transcription factor TFIIIB component B'' homolog
    Protein Accession:
    A6H8Y1
    Secondary Accessions:
    • Q68DS6
    • Q68DY5
    • Q6MZL9
    • Q6PIM7
    • Q86W98
    • Q96LR8
    • Q9C0H4
    • Q9H197
    • Q9H1A1
    • Q9HAW1
    • Q9HAW2
    • Q9HCY0
    • Q9ULH9

    Protein attributes for BDP1 Gene

    Size:
    2624 amino acids
    Molecular mass:
    293885 Da
    Quaternary structure:
    • Component of TFIIIB complex. The TFIIIB complex has two activities, alpha and beta. The TFIIIB-alpha and TFIIIB-beta activities are required for transcription of genes with TFIIIC-bound internal promoters and PSE transcription factor-bound external promoters, respectively. The TFIIIB-alpha activity complex is composed of TBP, BDP1, and a complex containing both BRF2 and at least four stably associated proteins; YY1 facilitates the formation of TFIIIB-alpha activity complex. The TFIIIB-beta activity complex is composed of TBP, BDP1, and BRF1. Interacts with BRF1; this interaction diminishes during mitosis resulting in the release of BDP1 from chromosomal templates. Component of TFIIIC complex. The TFIIIC complex has two activities, C1 and C2. The TFIIIC2 activity complex is only required for transcription of the 'classical' pol III genes whereas the TFIIIC1 activity complex is required for transcription of all pol III genes. The TFIIIC1 activity complex is composed at least of BDP1. Interacts with ZBTB43.
    SequenceCaution:
    • Sequence=AAG09268.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH32146.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA86555.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB21780.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAH18085.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BDP1 Gene

    Alternative splice isoforms for BDP1 Gene

neXtProt entry for BDP1 Gene

Post-translational modifications for BDP1 Gene

  • Phosphorylated by CSNK2A1 during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BDP1 Gene

Domains & Families for BDP1 Gene

Gene Families for BDP1 Gene

Protein Domains for BDP1 Gene

Suggested Antigen Peptide Sequences for BDP1 Gene

GenScript: Design optimal peptide antigens:
  • BDP1 protein (B1WB49_HUMAN)
  • Transcription factor-like nuclear regulator (BDP1_HUMAN)
genes like me logo Genes that share domains with BDP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BDP1 Gene

Function for BDP1 Gene

Molecular function for BDP1 Gene

UniProtKB/Swiss-Prot Function:
General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site.
UniProtKB/Swiss-Prot Induction:
By Epstein-Barr virus (EBV) resulting in the stimulation of the EBV EBER genes.

Phenotypes From GWAS Catalog for BDP1 Gene

Gene Ontology (GO) - Molecular Function for BDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001156 TFIIIC-class transcription factor complex binding IBA 21873635
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with BDP1: view
genes like me logo Genes that share phenotypes with BDP1: view

Human Phenotype Ontology for BDP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for BDP1 Gene

miRTarBase miRNAs that target BDP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BDP1 Gene

Localization for BDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BDP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BDP1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytoskeleton 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000126 transcription factor TFIIIB complex IBA 21873635
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with BDP1: view

Pathways & Interactions for BDP1 Gene

genes like me logo Genes that share pathways with BDP1: view

Pathways by source for BDP1 Gene

2 Qiagen pathways for BDP1 Gene
  • Assembly of RNA Polymerase-III Initiation Complex
  • Transcription of tRNA

SIGNOR curated interactions for BDP1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for BDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070898 RNA polymerase III preinitiation complex assembly IBA 21873635
genes like me logo Genes that share ontologies with BDP1: view

Drugs & Compounds for BDP1 Gene

No Compound Related Data Available

Transcripts for BDP1 Gene

mRNA/cDNA for BDP1 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BDP1 Gene

No ASD Table

Relevant External Links for BDP1 Gene

GeneLoc Exon Structure for
BDP1

Expression for BDP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BDP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BDP1 Gene

This gene is overexpressed in Amniocyte (28.3), Ovary (10.9), Bone marrow mesenchymal stem cell (9.3), and Serum (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BDP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BDP1

SOURCE GeneReport for Unigene cluster for BDP1 Gene:

Hs.258272

mRNA Expression by UniProt/SwissProt for BDP1 Gene:

A6H8Y1-BDP1_HUMAN
Tissue specificity: Isoform 2 is highly expressed in cerebellum.

Evidence on tissue expression from TISSUES for BDP1 Gene

  • Nervous system(4.4)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with BDP1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BDP1 Gene

Orthologs for BDP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BDP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BDP1 31 30
  • 98.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BDP1 31 30
  • 81.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BDP1 31 30
  • 80.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bdp1 17 31 30
  • 71.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia BDP1 31
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves BDP1 31
  • 59 (a)
OneToOne
LOC427394 30
  • 53.27 (n)
lizard
(Anolis carolinensis)
Reptilia BDP1 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4371 30
zebrafish
(Danio rerio)
Actinopterygii BDP1 (2 of 2) 31
  • 22 (a)
OneToMany
BDP1 (1 of 2) 31
  • 19 (a)
OneToMany
Dr.17209 30
fruit fly
(Drosophila melanogaster)
Insecta CG9305 31
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0261.1 31
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BDP1 33 31
  • 19 (a)
Species where no ortholog for BDP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BDP1 Gene

ENSEMBL:
Gene Tree for BDP1 (if available)
TreeFam:
Gene Tree for BDP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BDP1: view image

Paralogs for BDP1 Gene

Pseudogenes.org Pseudogenes for BDP1 Gene

genes like me logo Genes that share paralogs with BDP1: view

No data available for Paralogs for BDP1 Gene

Variants for BDP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BDP1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
668188 Likely Benign: not provided 71,509,837(+) G/A SYNONYMOUS_VARIANT
668386 Likely Benign: not provided 71,549,571(+) C/T SYNONYMOUS_VARIANT
669023 Likely Benign: not provided 71,524,215(+) A/G SYNONYMOUS_VARIANT
672381 Likely Benign: not provided 71,456,070(+) G/A MISSENSE_VARIANT
680005 Likely Benign: not provided 71,501,558(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for BDP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BDP1 Gene

Variant ID Type Subtype PubMed ID
esv1360871 CNV deletion 17803354
esv2759348 CNV gain+loss 17122850
esv3070257 CNV deletion 24192839
esv3353906 CNV insertion 20981092
esv3566069 CNV deletion 23714750
nsv1034703 CNV gain 25217958
nsv1114690 CNV deletion 24896259
nsv1137007 CNV deletion 24896259
nsv428117 CNV gain+loss 18775914
nsv528571 CNV loss 19592680
nsv830340 CNV loss 17160897
nsv980681 CNV duplication 23825009

Variation tolerance for BDP1 Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.89; 91.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BDP1 Gene

Human Gene Mutation Database (HGMD)
BDP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BDP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BDP1 Gene

Disorders for BDP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BDP1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 112
  • dfnb112
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
cataract 8, multiple types
  • ctrct8
- elite association - COSMIC cancer census association via MalaCards
Search BDP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BDP1_HUMAN
  • Deafness, autosomal recessive, 112 (DFNB112) [MIM:618257]: A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:24312468}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BDP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BDP1: view

No data available for Genatlas for BDP1 Gene

Publications for BDP1 Gene

  1. Transcription factor (TF)-like nuclear regulator, the 250-kDa form of Homo sapiens TFIIIB", is an essential component of human TFIIIC1 activity. (PMID: 15096501) Weser S … Meissner W (The Journal of biological chemistry 2004) 3 4 23 54
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  3. The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1. (PMID: 11161782) Kelter AR … Wirth B (Genomics 2000) 3 4 23 54
  4. Different human TFIIIB activities direct RNA polymerase III transcription from TATA-containing and TATA-less promoters. (PMID: 11040218) Schramm L … Hernandez N (Genes & development 2000) 2 3 4 54
  5. Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. (PMID: 24312468) Girotto G … Gasparini P (PloS one 2013) 3 4 54

Products for BDP1 Gene

Sources for BDP1 Gene