Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

TBP

contributors: mct - updated : 17-06-2020

HGNC name	TATA box binding protein
HGNC id	11588

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA17 spinocerebellar ataxia 17
Location	6q27      Physical location : 170.863.420 - 170.881.957
Synonym name	transcription initiation factor TFIID TBP subunit
Synonym symbol(s)	GTF2D, TF2D, GTF2D1, MGC117320, MGC126054, MGC126055, TFIID, SCA17

DNA

TYPE	functioning gene
STRUCTURE	18.48 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
motif	repetitive sequence   triplet
text structure	triplet CAG (<42 repeats) in the third exon, a methylation free CpG island spanning their promoter region
	presence of a TATA-box motif in the promoter that has been strongly linked with noise

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

closely linked to PDCD2

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003194 8 - 1867 NP_003185 - 339 - 2009 19285969

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 Digestive stomach       highly Endocrine neuroendocrine pituitary     highly Respiratory respiratory tract larynx     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a polymorphic polyglutamine (polyQ) domain in its N terminus
	a DNA-binding domain in its highly conserved C terminus

mono polymer

monomer

HOMOLOGY

interspecies

homolog to murine Tbp

Homologene

FAMILY	transcription factor (architectural) TF2D family
	TBP family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	large multiprotein complex, composed of the TATA box-binding protein (TBP) and 14 TBP-associated factors (TAFs), which plays a key role in the regulation of gene expression by RNA polymerase II
	TBP, BTAF1, and DR1 establish a regulatory circuit that controls downstream core promoter element-dependent versus TATA-dependent transcription b
	gene transcription in mammalian cells is a dynamic process involving regulated assembly of transcription complexes on chromatin in which TBP plays a central role (PMIS: 20627952)
	is a critical transcription factor used for nucleating assembly of the RNA polymerase II machinery
	is an essential factor that is required at virtually every eukaryotic promoter to initiate transcription
	plays a central role in eukaryotic gene transcription
	eukaryotic TBP initially acquired multiple Eukarya-specific interactors through asymmetric evolution of the two repeats
	TBP is likely required for re-establishing the transcription program following mitosis
	plays a central role in regulating gene expression and is the first step in the process of pre-initiation complex (PIC) formation on promoter DNA

CELLULAR PROCESS

nucleotide, transcription, initiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the multisubunit complex TFIID, general transcription factor IID DNA binding subunit
	s1 also component of TFIIIB and general transcription factor SL1
	component of the transcription factor
	SL1/TIFIB complex, composed of TBP and at least TAF1A, TAF1B and TAF1C
	TBP/GTF2B/Pol II complexes were linked to the production of non-polyadenylated RNA rather than polyadenylated transcripts

INTERACTION

DNA	binds DNA as monomer
	binds to TATA boxes in core promoters and bends the TATA DNA

RNA

small molecule

protein	MYC binding, RUVBL1
	TATA-box binding
	DNA binding by TAF4/TAF4B-TAF12 facilitates the association of TBP with the core promoter of a subset of genes
	BTAF1 negatively regulates TBP and DR1 binding to active promoters
	interacting with BTAF1 (BTAF1 thus acts as a TBP chaperone to control its interaction with other macromolecules)
	TBP interacts with NFY subunit A (NFYA), which could be a target of mutant TBP in SCA17
	H3K4me3, through interactions with TAF3, directs global TBP recruitment
	H3K4me3 facilitates global TBP recruitment to the core promoters of active genes
	TAF4 having coactivator function for E proteins that involves enhanced TBP binding
	may be predominantly crosslinking to GTF2B, rather than directly to the TATA element
	action of BTAF1 is required to clear TBP from intrinsically preferred (TATA-containing) binding sites, ensuring sufficient soluble TBP to bind intrinsically disfavored (TATA-less) sites
	TAF9 is required for FAM48A and TBP promoter occupancy to promote transcriptional activation
	salt-dependent changes in the nucleosome conformation regulate TBP access to the TATA box, where access is highly constrained under physiological conditions
	GATA2, SP1 and TATA-binding protein (TBP)interacting with the proximal promoter region of MAOA
	upregulation of HUWE1 expression during myogenesis induces TBP degradation and myotube differentiation
	interplay between an E3 ligase and a deubiquitinating enzyme regulating TBP levels during cellular differentiation
	TBP-DNA affinity as well as other aspects of promoter sequence influence BTAF1 function
	TBP loading by AFF1 through TAF1A, TAF1B, TAF1C is the major rate-limiting step in MLL fusion-dependent transcription
	key checkpoint function for the chaperonin TCP1, which specifically associates with nascent TAF5 for subsequent handover to TAF6-TAF9 and ultimate holo-TBP formation
	lifetime of TBP at the promoter site is controlled by several cofactors including the Modifier of transcription 1 (BTAF1)
	O-GlcNAcylation at T114 of TBP blocks its interaction with BTAF1, hence the formation of the B-TFIID complex, and its dynamic cycling on and off of DNA

cell & other

REGULATION

Other

TBP protein levels are tightly regulated by the ubiquitin-proteasome system

ASSOCIATED DISORDERS

corresponding disease(s)

SCA17

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of an N-terminal fragment of the TATA-box binding protein (TBP) in Alzheimer's disease brain tissue tumoral     --over   contribute to enhanced VEGFA transcription early in colorectal cancer development to drive tumorigenesis

Susceptibility

to type I diabetes( see IDDM8)

Variant & Polymorphism other	CAG/CAA polymorphism in exon 3 associated with diabetes susceptibility

Candidate gene	for mental retardation in the 6q subtelomeric deletion phenotype (DEL6QD)
Marker
Therapy target

ANIMAL & CELL MODELS

	polyQ expansion causes abnormal interaction of TBP with the general transcription factor TFIIB and induces neurodegeneration in transgenic SCA17 mice
	chronic alcohol administration in mice leads to enhanced expression of Tbp, Brf1, tRNA, and 5S rRNA gene transcription in the liver