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FLASH GENE

Symbol

TAF1

contributors: mct/npt - updated : 13-01-2016

HGNC name	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
HGNC id	11535

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DYT3 dystonia 3, torsion MRXS33 X-linked syndromic mental retardation-33
Location	Xq13.1      Physical location : 70.586.113 - 70.685.854
Synonym name	cell cycle gene 1
	DYT3 protein
	TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD
	TBP-associated factor 250 kDa
	transcription initiation factor TFIID 250 kDa subunit
	cell cycle gene 1 protein
	complementation of cell cycle block, G1-to-S
Synonym symbol(s)	CCG1, CCGS, BA2R, TAF2A, NSCL2, TAFII250, OF, P250, XPD, KAT4, N-TAF1
EC.number	2.7.11.1/ 2.3.1.48

DNA

TYPE	functioning gene
STRUCTURE	164.31 kb     38 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004606 38 splicing 7709 NP_004597 - 1893 - 2007 17952504 NM_138923 38 splicing 7646 NP_620278 - 1872 - 2007 17952504 NM_001286074 39 - 7740 NP_001273003 - 1895 neuron, in the striatum 2012 22842574 N-TAF1 (neuron-specific isoform of the TAF1) may have an essential role in neurons through transcriptional regulation of many neuron-specific genes has an important role in non-dividing neuronal cell rather than in cell division and proliferation during neurogenesis

EXPRESSION

Type

widely

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 Cardiovascular heart         Nervous brain basal nuclei caudate nucleus   highly   nerve cranial nerve     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage
cell lines	glioblastoma and pheochromocytoma cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal kinase activity
	TATA box binding protein
	one HMG box domain
	two bromodomains (Bromo1, and Bromo2), each of which consists of a bundle of four alpha helices that form a hydrophobic pocket that can recognize acetylated lysines found on the N-terminal tails of histones
	a WH domain having intrinsic DNA-binding activity, which depends on characteristic residues that are commonly used by WH fold proteins for interacting with DNA

HOMOLOGY

interspecies

homolog to murine Taf1

Homologene

FAMILY

TAF1 family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus

basic FUNCTION	playing an essential role in the contrôle of the cell cycle (progression of the G1 phase)
	phosphorylating histone 2B for transcriptional activation and promoting cell cycle progression and development
	playing a specific role in transcription activation from a TATA-less, DPE containing promoter that is not observed with a TATA-containing, DPE-less promoter
	autophosphorylating and transphosphorylating TFIIF both modulating a pression of different subsets of genes
	stimulates the ubiquitylation and degradation of TP53 in a manner that is dependent upon MDM2 and requires its acidic domain (Allende-Vega 2007)
	multifunctional protein that has been reported to possess activities related to DNA promoter binding, histone acetylation, and protein phosphorylation
	TAF1 regulates PAX3 protein levels through its ability to mediate monoubiquitination, revealing a critical interaction between two proteins that are involved in distinct aspects of myogenic differentiation
	TAF1 and CIITA both possess intrinsic acetyltransferase (AT) activity that is required for transcription initiation
	TAF1 and TAF7, two subunits of TFIID, are integral to the regulation of eukaryotic transcription initiation and play key roles in preinitiation complex (PIC) assembly
	novel roles for the TAF1-TAF7 complex in regulation of PIC assembly via reading epigenetic histone marks
	critical promoter-binding function of TAF1 in transcription regulation

CELLULAR PROCESS	cell cycle
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the transcription initiation complex TFIID
	part of TAF1/DYT3, a complex transcript system that is composed of at least 43 exons (Herzfeld 2007)

INTERACTION

DNA

binding

RNA

small molecule

protein	TATA box binding (TBP)
	interacting with JUN, for transcriptional activation
	interacting with CK2 (recruitment of CK2 by TAF1 may play a contributory role in the maintenance of MDM2 phosphorylation and function) (Allende-Vega 2008)
	because TAF1 is a coactivator of AR that binds and enhances AR transcriptional activity, its overexpression could be part of a compensatory mechanism adapted by cancer cells to overcome reduced levels of circulating androgens
	TAF7, until now considered only a TFIID component and regulator of TAF1-dependent transcription, also regulates TAF1-independent transcription
	TAF1 binds directly to PAX3 and overexpression of TAF1 increases the level of monoubiquitinated PAX3 and its degradation by the proteasome
	TAF1 is able to phosphorylate TP53 on Thr55, which leads to dissociation of TP53 from the CDKN1A promoter

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DYT3 , MRXS33

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   may serve as novel targets for the treatment of liver fibrosis

ANIMAL & CELL MODELS

in the rat brain, N-taf1 protein appears as a nuclear protein within subsets of neurons in multiple brain regions