BDP1 (B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB)

2014-11-01  

Identity

HGNC
LOCATION
5q13.2
LOCUSID
ALIAS
DFNB112,HSA238520,TAF3B1,TFC5,TFIIIB,TFIIIB150,TFIIIB90,TFNR
FUSION GENES

Other Information

Locus ID:

NCBI: 55814
MIM: 607012
HGNC: 13652
Ensembl: ENSG00000145734

Variants:

dbSNP: 55814
ClinVar: 55814
TCGA: ENSG00000145734
COSMIC: BDP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145734ENST00000358731A6H8Y1
ENSG00000145734ENST00000380675A0A0A0MRX7
ENSG00000145734ENST00000514903H7C5U4
ENSG00000145734ENST00000525844H0YCV8

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase III TranscriptionREACTOMER-HSA-74158
RNA Polymerase III Abortive And Retractive InitiationREACTOMER-HSA-749476
RNA Polymerase III Transcription InitiationREACTOMER-HSA-76046
RNA Polymerase III Transcription Initiation From Type 1 PromoterREACTOMER-HSA-76061
RNA Polymerase III Transcription Initiation From Type 2 PromoterREACTOMER-HSA-76066
RNA Polymerase III Transcription Initiation From Type 3 PromoterREACTOMER-HSA-76071

References

Pubmed IDYearTitleCitations
174990432007Mammalian Maf1 is a negative regulator of transcription by all three nuclear RNA polymerases.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
183910232008PTEN represses RNA polymerase III-dependent transcription by targeting the TFIIIB complex.51
243124682013Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.17
150965012004Transcription factor (TF)-like nuclear regulator, the 250-kDa form of Homo sapiens TFIIIB", is an essential component of human TFIIIC1 activity.11
287438842017Molecular mechanisms of Bdp1 in TFIIIB assembly and RNA polymerase III transcription initiation.8

Citation

Dessen P

BDP1 (B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60731/bdp1