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FLASH GENE

Symbol

BDP1

contributors: mct/npt - updated : 04-04-2023

HGNC name	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
HGNC id	13652

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNB112 neurosensory deafness 112
Location	5q13.2      Physical location : 70.751.441 - 70.863.649
Synonym name	transcription factor-like nuclear regulator
	putative transcription factor-like nuclear regulator
	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1
	transcription factor IIIB 150
Synonym symbol(s)	DKFZp686K0831, DKFZp686C01233, TFC5, TFNR, TAF3B1, KIAA1241, KIAA1689, TFIIIB90, TFIIIB150, TFIIIB, HSA238520

DNA

TYPE	functioning gene
STRUCTURE	112.21 kb     39 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D5S823 - CCNB1 - RAD17 - OCLN - [GTF2H2 - NAIP - SMN2 - SERF1B ] - (SERF1A - SMN1 - NAIP - GTF2H2 ) - BDP1 - D5S557 - D5S1408 - qter
Authors	Kelter (00)
Text	[centromeric unit], (telomeric unit)

RNA

TRANSCRIPTS	type	messenger

text	short copies maybe spliced, truncated copies or paralogues

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 7193 isoform 1 252.8 2254 cerebellum 2017 28743884 variant 5 - splicing 4272 isoform 5 155.7 1388 weakly 2017 28743884 also called B'' lacking exon 15, truncated variant 6 - splicing 4273 isoform 6 155.6 1372 weakly 2017 28743884 also called B" short remplacement of the 21 last Aas variant 2 - splicing - isoform 2 89 796 weakly 2017 28743884 lacking exon 15 truncated variant 3 - - 4300 isoform 3 1388 - - 2017 28743884 variant 4 - splicing 4300 isoform 4 1372 - - 2017 28743884 replacement of the last 21 amino acids with 5 different amino acids NM_018429 39 - 11097 NP_060899 293 2624 - 2017 28743884

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear       highly Nervous brain hindbrain cerebellum     Reproductive female system breast mammary gland   moderately   female system uterus     moderately Urinary bladder       highly

cell lineage
cell lines
fluid/secretion	highly in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular		Hydrophilic
STRUCTURE

motifs/domains	nine repeats of a 55 aa motif rich in serine, lysine, glutamic acid (coded by exon 17)
	a bipartite nuclear localization signal (NLS)
	a DNA ligase A1 ATP-dependent binding site
	essential region of BDP1 that is positioned within the active site cleft of Pol III and necessary for transcription initiation
	a second NLS in the C terminal region

HOMOLOGY

interspecies	homolog to yeast S.cerevisiae TFC7
	homolog to murine Bdp1 (53 pc)

Homologene

FAMILY

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies

basic FUNCTION	acting as a transcription factor-like nuclear regulator
	required for transcription from the Ad2 VAI and human U6RNA polymerase III promotors
	transcription factor BDP1 is crucial to Pol III recruitment and promoter opening in transcription initiation

CELLULAR PROCESS

nucleotide, transcription, initiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	part of the U6 initiation complex
	subunit of the TFIIIB transcription initiation complex
	three components (TBP, BRF1, and BDP1) in TFIIIB participate in crucial molecular events that include RNA polymerase recruitment, formation of the open initiation complex, and recycling of transcription

INTERACTION

DNA

binding

RNA

small molecule

protein	ZBTB43
	regulation of BDP1 occurs through JNK-mediated alterations in TBP expression
	role of BDP1 in TFIIIB assembly and pre-initiation complex formation

cell & other

REGULATION

Other

phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB112

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   is disadvantageous and unfavorable for progression-free survival in serous ovarian cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	BDP1 could likely be of clinical relevance as a predictive biomarker in serous ovarian cancer
Therapy target

ANIMAL & CELL MODELS