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FLASH GENE

Symbol

GTF2H1

contributors: mct - updated : 07-03-2016

HGNC name	general transcription factor IIH, polypeptide 1, 62kDa
HGNC id	4655

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001142307 16 - 3515 NP_001135779 - 548 - 1998 9630526 NM_005316 15 - 3308 NP_005307 - 548 - 1998 9630526

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 Reproductive male system testis     highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a C terminal kinase activity domain

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to yeast S.cerevisiae Tfb1
	homolog to murine Gtf2h1

Homologene

FAMILY

CATEGORY

enzyme , regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	having kinase activity (phosphorylation of CDC2 and CDK2)
	playing a role in RNA polymerase 1 mediated transcription
	GTF2H1 phosphorylation might participate to the transactivation by regulating the nuclear receptors turnover

CELLULAR PROCESS	nucleotide, repair, nucleotide excision repair
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the core-TFIIH basal transcription factor (one of the six subunits)

INTERACTION

DNA

RNA

small molecule

protein	CAK, AR, BRCA1, EBNA2, RAD52
	is recruited to the transcription preinitiation complex through an interaction between its p62/Tfb1 subunit and the alpha-subunit of GTF2E1
	GTF2E1 and TP53 share the binding region on GTF2H1
	via its CDK7 kinase, phosphorylates the androgen receptor (AR) at position AR/S515
	KLF1 through EKLFTAD2 binds the N-terminal PH domain of the GTF2H1 and four domains of EP300
	TAF7 interacts with and regulates the enzymatic activities of other transcription factors, including CDK9, GTF2H1, and CIITA, ensuring an orderly progression in transcription initiation
	through its acidic transactivation domain (TAD), RELA has the capacity to form interactions with several different transcriptional regulatory proteins, including GTF2B, GTF2H1, EP300 and TAF9B
	tight connection between GTFIIH1 and KAT2A that controls higher-order chromatin structure and gene expression

cell & other

REGULATION

repressed by

phosphorylation (of both the ability of TFIIH to activate transcription and its C terminal kinase activity)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in trichothiodystrophy

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS