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FLASH GENE

Symbol

GTF2IRD1

contributors: mct/npt - updated : 18-01-2018

HGNC name	GTF2I repeat domain containing 1
HGNC id	4661

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	149.28 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - ELN - LIMK1 - WBSCR1 - RFC2 - CYLN2 - GTF2IRD1 - GTF2I - qter
Authors	Durkin (01)
Text	see WBSCR14

regionally located

located in the WBSCR for WBS1

RNA

TRANSCRIPTS	type	messenger

text	may be a third alternative transcript coding for a protein made of 895 aa

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016328 27 - 3446 NP_057412 106.1 959 - 2015 26275350 NM_005685 27 splicing 3078 NP_005676 - 944 - 2015 26275350 lack 45nt fragment NM_001199207 27 - 3522 NP_001186136 - 976 - 2015 26275350

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 Digestive mouth tooth       Endocrine parathyroid       highly Hearing/Equilibrium ear inner cochlea     Homo sapiens Reproductive female system uterus cervix   highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Digestive odontoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	skeletal muscle, more than in adult, in the epithelial buds

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	multiple helix-loop-helix domains
	an N-terminal leucine zipper motif (helix-loop-helix domain 4 is necessary and sufficient for binding the bicoid-like motif) (Vullhorst 2003)
	five GTF2I-like repeats

secondary structure

a potential helix-loop-helix (MLM) motif in each GTF2I like repeat

HOMOLOGY

interspecies	ortholog to murine Ben (binding factor for early enhancer)
	homolog to rattus Gtf2ird1

intraspecies

homolog to GTF2I,highly and tightly linked

Homologene

FAMILY	TFII-I family
	GTF2I gene family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	functioning as a transcription factor or as a positive transcriptional regulator under the control of retinoblastoma protein
	having essential functions in embryonic development(Enkhmandakh 2009)
	playing a role in visuospatial deficit of WBS
	involved in the craniofacial development
	complex scaffolding protein that act as critical regulators coordinating the activity of multiple transcription factors, histone deacetylases, and signaling molecules
	encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members
	importance of GTF2IRD1 in maintaining M cone cell identity and function as well as rod function
	likely an important role for GTF2IRD1 in regulating the level and topology of rod and cone gene expression, and in maintaining normal retinal function
	its nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to enhancer element of gene encoding troponin
	binding to a regulatory motif (GUCE-GTF2IRD1 Upstream Control Element) of HOXC8, GSC and troponin I(slow)

RNA

small molecule

protein	MLM protein
	binds DNA in a sequence-specific manner (Palmer 2010)
	is essential for MKX transcription, while also linking mechanical forces to MKX-mediated tendon homeostasis and regeneration

cell & other

REGULATION

Other

regulated by negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites (Palmer 2010)

ASSOCIATED DISORDERS

corresponding disease(s)

WBS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   significantly reduced in fibroblasts from WBS patients (Palmer 2010) tumoral     --over   in human breast tumors, correlating with high tumor grades and poor prognosis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Gtf2ird1-null mice also demonstrate abnormal M cone and rod electrophysiological responses
	Gtf2ird1 null mice showed higher auditory thresholds (hypoacusis) in both auditory brainstem response (ABR) and the distortion product of otoacoustic emissions (DPOAE) hearing assessments