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FLASH GENE

Symbol

TRIOBP

contributors: mct - updated : 08-09-2010

HGNC name	TRIO and F-actin binding protein
HGNC id	17009

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNB28 neurosensory deafness 28
Location	22q13.1      Physical location : 38.092.994 - 38.172.562
Synonym name	Tara-like protein
	Trio-associated repeat on actin
Synonym symbol(s)	KIAA1662, HRIHFB2122, TARA, FLJ39315

DNA

TYPE	functioning gene
STRUCTURE	79.69 kb     23 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007032 23 splicing 4753 72 652 ubiquitous Seipel, Yu (2008), Kitajiri (2010) TARA Exon 11 includes the 5prime UTR and translation start codon NM_138632 - splicing 1743 - 431 - Seipel, Yu (2008) utilizing an alternate 3'-terminal exon NM_001039141 24 - 10159 261.4 2367 only expressed in fetal brain, retina, and cochlea Shahin, Yu (2008) TRIOBP6, responsible of DFNB28 variant 4 11 - - isoform 4 107 - expressed predominantly in the eye and inner ear Kitajiri (2010) organizes actin filaments into uniquely dense bundles reminiscent of rootlets but distinct from bundles formed by espin, an actin crosslinker in stereocilia has a translation stop codon and 3prime untranslated region (UTR) in exon 6 variant 5 24 - - isoform 5 218 - expressed predominantly in the eye and inner ear Kitajiri (2010)

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 blood / hematopoietic spleen       highly Cardiovascular heart       highly Digestive liver       highly Endocrine pancreas       highly Hearing/Equilibrium ear inner cochlea     Nervous brain         Reproductive male system prostate     highly Respiratory lung       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid         Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium stereocilia

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta highly

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a pleckstrin homology (PH) domain
	a coiled-coil region (at least two actin-binding sites per coiled-coil dimer)

HOMOLOGY

interspecies

ortholog to murine Triobp

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament
text	localized to F-actin in a periodic pattern
	cytoskeleton-associated protein localized to rootlets (Kitajiri 2010)

basic FUNCTION	regulating actin cytoskeletal organisation, cell spreading and cell contraction by directly binding
	stabilizing filamentous (F)-actin
	involved in many important fundamental cellular processes, ranging from actin remodeling, directed cell movement, to cell cycle regulation
	serving as a linker protein to recruit proteins required for F-actin formation and turnover
	may be involved in mitotic regulation through interacting with TRF1
	actin-bundling protein that is critical for rootlet formation (Kitajiri 2010)
	implication in the bundling of actin filaments that is essential for the biogenesis of rootlets providing durable flexibility at the taper and mechanical rigidity to the stereocilia bundle (Kitajiri 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to F-actin, TRIO and myosin II
	interacting partner of guanine nucleotide exchange factor Trio and TRF1 (TRF1 interacting protein)
	interacting with HECTD3 (HECTD3 may facilitate cell cycle progression via regulating ubiquitination and degradation of TRIOBP) (Yu 2008)
	purified TRIOBP interacted with TERF1, suggesting that the purified protein is functional and biologically active (Li 2007)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB28

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS