U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [ Homo sapiens (human) ]

Gene ID: 55814, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
BDP1provided by HGNC
Official Full Name
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIBprovided by HGNC
Primary source
HGNC:HGNC:13652
See related
Ensembl:ENSG00000145734 MIM:607012; AllianceGenome:HGNC:13652
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
TFC5; TFNR; TAF3B1; DFNB112; TFIIIB''; TFIIIB90; HSA238520; TFIIIB150
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 5.4), lymph node (RPKM 4.2) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5q13.2
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71455651..71578288)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71936967..72059628)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70751478..70863647)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2197 Neighboring gene uncharacterized LOC105379025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:70694085-70694716 Neighboring gene pro-melanin concentrating hormone like 2 (pseudogene) Neighboring gene uncharacterized LOC107987420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70750413-70751339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70751340-70752265 Neighboring gene sterol carrier protein 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 10712 Neighboring gene MPRA-validated peak5278 silencer Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 12 Neighboring gene uncharacterized LOC124900999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70882826-70883612 Neighboring gene methylcrotonyl-CoA carboxylase subunit 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. DNA origami-based single-molecule force spectroscopy elucidates RNA Polymerase III pre-initiation complex stability. Kramm K, et al. Nat Commun, 2020 Jun 5. PMID 32504003, Free PMC Article
  2. Transcription factor (TF)-like nuclear regulator, the 250-kDa form of Homo sapiens TFIIIB", is an essential component of human TFIIIC1 activity. Weser S, et al. J Biol Chem, 2004 Jun 25. PMID 15096501
  3. TFIIIB is phosphorylated, disrupted and selectively released from tRNA promoters during mitosis in vivo. Fairley JA, et al. EMBO J, 2003 Nov 3. PMID 14592981, Free PMC Article
  4. Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers. Son HJ, et al. Pathol Res Pract, 2020 Oct. PMID 32853945
  5. Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. Girotto G, et al. PLoS One, 2013. PMID 24312468, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers.
    Title: Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers.
  2. DNA origami-based single-molecule force spectroscopy elucidates RNA Polymerase III pre-initiation complex stability.
    Title: DNA origami-based single-molecule force spectroscopy elucidates RNA Polymerase III pre-initiation complex stability.
  3. Data indicate the crystal structure of a Brf2-TBP-Bdp1 complex bound to a DNA promoter.
    Title: Molecular mechanisms of Bdp1 in TFIIIB assembly and RNA polymerase III transcription initiation.
  4. Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
    Title: Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. PTEN represses RNA polymerase III-dependent transcription by targeting the TFIIIB complex
    Title: PTEN represses RNA polymerase III-dependent transcription by targeting the TFIIIB complex.
  7. Human BDP1 protein represents essential components of TFIIIC1 and TFIIIC1-like activities.
    Title: Transcription factor (TF)-like nuclear regulator, the 250-kDa form of Homo sapiens TFIIIB", is an essential component of human TFIIIC1 activity.
  8. Maf1 occupancy of Pol III genes is inversely correlated with that of the initiation factor TFIIIB (subunit Bdp1) and Pol III
    Title: Mammalian Maf1 is a negative regulator of transcription by all three nuclear RNA polymerases.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Hearing loss, autosomal recessive 112
MedGen: C4748855 OMIM: 618257 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • KIAA1241, KIAA1689, DKFZp686K0831, DKFZp686C01233

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables TFIIIC-class transcription factor complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA polymerase III preinitiation complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of transcription factor TFIIIB complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
transcription factor TFIIIB component B'' homolog
Names
RNA polymerase III transcription initiation factor B''
TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1
transcription factor IIIB 150
transcription factor-like nuclear regulator

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_047017.1 RefSeqGene

    Range
    5269..117438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018429.3 → NP_060899.2  transcription factor TFIIIB component B'' homolog

    See identical proteins and their annotated locations for NP_060899.2

    Status: REVIEWED

    Source sequence(s)
    AB051476, AC138832, AI537645, BP246483, BP347992
    Consensus CDS
    CCDS43328.1
    UniProtKB/Swiss-Prot
    A6H8Y1, Q68DS6, Q68DY5, Q6MZL9, Q6PIM7, Q86W98, Q96LR8, Q9C0H4, Q9H197, Q9H1A1, Q9HAW1, Q9HAW2, Q9HCY0, Q9ULH9
    UniProtKB/TrEMBL
    B1WB49
    Related
    ENSP00000351575.4, ENST00000358731.9
    Conserved Domains (1) summary
    pfam15963
    Location:297 → 380
    Myb_DNA-bind_7; Myb DNA-binding like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    71455651..71578288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009630.2 → XP_016865119.1  transcription factor TFIIIB component B'' homolog isoform X1

    UniProtKB/TrEMBL
    B1WB49

  2. XM_047417372.1 → XP_047273328.1  transcription factor TFIIIB component B'' homolog isoform X1

  3. XM_017009631.2 → XP_016865120.1  transcription factor TFIIIB component B'' homolog isoform X1

    UniProtKB/TrEMBL
    B1WB49

  4. XM_047417373.1 → XP_047273329.1  transcription factor TFIIIB component B'' homolog isoform X3

  5. XM_011543511.4 → XP_011541813.1  transcription factor TFIIIB component B'' homolog isoform X2

    See identical proteins and their annotated locations for XP_011541813.1

    UniProtKB/TrEMBL
    B1WB49
    Conserved Domains (1) summary
    pfam15963
    Location:297 → 380
    Myb_DNA-bind_7; Myb DNA-binding like

  6. XM_011543512.3 → XP_011541814.1  transcription factor TFIIIB component B'' homolog isoform X4

    See identical proteins and their annotated locations for XP_011541814.1

    UniProtKB/TrEMBL
    B1WB49
    Conserved Domains (1) summary
    pfam15963
    Location:297 → 380
    Myb_DNA-bind_7; Myb DNA-binding like

  7. XM_047417374.1 → XP_047273330.1  transcription factor TFIIIB component B'' homolog isoform X5

    Related
    ENST00000508917.6

  8. XM_047417375.1 → XP_047273331.1  transcription factor TFIIIB component B'' homolog isoform X6

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791777.1 Reference GRCh38.p14 PATCHES

    Range
    1942759..2065430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443308.1 → XP_047299264.1  transcription factor TFIIIB component B'' homolog isoform X1

  2. XM_047443310.1 → XP_047299266.1  transcription factor TFIIIB component B'' homolog isoform X1

  3. XM_047443309.1 → XP_047299265.1  transcription factor TFIIIB component B'' homolog isoform X1

  4. XM_047443312.1 → XP_047299268.1  transcription factor TFIIIB component B'' homolog isoform X3

  5. XM_047443307.1 → XP_047299263.1  transcription factor TFIIIB component B'' homolog isoform X7

    UniProtKB/TrEMBL
    A0A0G2JNU3

  6. XM_047443311.1 → XP_047299267.1  transcription factor TFIIIB component B'' homolog isoform X2

  7. XM_047443313.1 → XP_047299269.1  transcription factor TFIIIB component B'' homolog isoform X4

  8. XM_047443314.1 → XP_047299270.1  transcription factor TFIIIB component B'' homolog isoform X5

  9. XM_047443315.1 → XP_047299271.1  transcription factor TFIIIB component B'' homolog isoform X6

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1454136..1576773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329522.1 → XP_054185497.1  transcription factor TFIIIB component B'' homolog isoform X1

  2. XM_054329524.1 → XP_054185499.1  transcription factor TFIIIB component B'' homolog isoform X1

  3. XM_054329523.1 → XP_054185498.1  transcription factor TFIIIB component B'' homolog isoform X1

  4. XM_054329526.1 → XP_054185501.1  transcription factor TFIIIB component B'' homolog isoform X3

  5. XM_054329525.1 → XP_054185500.1  transcription factor TFIIIB component B'' homolog isoform X2

  6. XM_054329527.1 → XP_054185502.1  transcription factor TFIIIB component B'' homolog isoform X4

  7. XM_054329528.1 → XP_054185503.1  transcription factor TFIIIB component B'' homolog isoform X5

  8. XM_054329529.1 → XP_054185504.1  transcription factor TFIIIB component B'' homolog isoform X6

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    985635..1108263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329954.1 → XP_054185929.1  transcription factor TFIIIB component B'' homolog isoform X1

  2. XM_054329956.1 → XP_054185931.1  transcription factor TFIIIB component B'' homolog isoform X1

  3. XM_054329955.1 → XP_054185930.1  transcription factor TFIIIB component B'' homolog isoform X1

  4. XM_054329958.1 → XP_054185933.1  transcription factor TFIIIB component B'' homolog isoform X3

  5. XM_054329957.1 → XP_054185932.1  transcription factor TFIIIB component B'' homolog isoform X2

  6. XM_054329959.1 → XP_054185934.1  transcription factor TFIIIB component B'' homolog isoform X4

  7. XM_054329960.1 → XP_054185935.1  transcription factor TFIIIB component B'' homolog isoform X5

  8. XM_054329961.1 → XP_054185936.1  transcription factor TFIIIB component B'' homolog isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    71936967..72059628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352914.1 → XP_054208889.1  transcription factor TFIIIB component B'' homolog isoform X1

  2. XM_054352916.1 → XP_054208891.1  transcription factor TFIIIB component B'' homolog isoform X1

  3. XM_054352915.1 → XP_054208890.1  transcription factor TFIIIB component B'' homolog isoform X1

  4. XM_054352918.1 → XP_054208893.1  transcription factor TFIIIB component B'' homolog isoform X3

  5. XM_054352917.1 → XP_054208892.1  transcription factor TFIIIB component B'' homolog isoform X2

  6. XM_054352919.1 → XP_054208894.1  transcription factor TFIIIB component B'' homolog isoform X4

  7. XM_054352920.1 → XP_054208895.1  transcription factor TFIIIB component B'' homolog isoform X5

  8. XM_054352921.1 → XP_054208896.1  transcription factor TFIIIB component B'' homolog isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6H8Y1.3 GenPept UniProtKB/Swiss-Prot:A6H8Y1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous