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FLASH GENE

Symbol

IFT88

contributors: npt/mct - updated : 28-03-2009

HGNC name	intraflagellar transport 88 homolog (Chlamydomonas)
HGNC id	20606

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	13q12.11      Physical location : 21.141.207 - 21.265.574
Genatlas name	polaris
Synonym name	tetratricopeptide-repeat containing gene
	Probe hTg737 (polycystic kidney disease, autosomal recessive)
	polaris
	tetratricopeptide repeat domain 10
	recessive polycystic kidney disease protein Tg737 homolog
Synonym symbol(s)	D13S1056E, TG737, TTC10, RP11-172H24.2, DAF19, MGC26259, RP11-172H24.2

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	124.37 kb     26 Exon(s)    1 Copie(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 DAF19C - - - - - specifically expressed in ciliated sensory neurons Senti (2008) variant 1 28 - 3171 94.14 833 - Robert (2007) variant 2 26 - 2942 93.1 824 - Robert (2007)

EXPRESSION

Type

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         Digestive liver         Endocrine pancreas         Nervous brain         Respiratory lung         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

twelve tetratricopeptide repeat motifs, essential for localization in centrosome (Robert 2007)

HOMOLOGY

interspecies

ortholog to murine Tg737 (TgN373Rpw)

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	remains associated to the centrosome in a proliferative stateand is tightly associated with the centrosome throughout the cell cycle in a microtubule- and dynein-independent manner (Robert 2007)

basic FUNCTION	required for assembly of renal cilium (in mouse)
	structural constituent of the ribosome, required for Hedgehog (Hh) response
	required for establishing epithelial polar cell polarity and for convergent extension of the cochlear duct
	having functions in a ciliogenic pathway or in cilia maintenance (Taulman 2001)
	playing an essential role for ciliogenesis, and also crucial for G1-S transition in non-ciliated cells (Robert 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

excretion

text	osmoregulation

PATHWAY

metabolism

signaling

a component

component of the intraflagellar transport (Robert 2007)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in hepatocellular carcinoma constitutional       loss of function leads to misorientation of stereociliary bundles and to shortening and widening of the cochlea and its sensory organ constitutional     --over   prevents G1-S transition and induces apoptotic cell death (Robert 2007)

Susceptibility

Variant & Polymorphism

Candidate gene	recessive polycystic kidney disease and other recessive renal diseases
Marker
Therapy target

ANIMAL & CELL MODELS

	transgenic mice containing an insertional mutation in Tg373 (Moyer,94)
	C. elegans daf-19 mutant worms can thus serve as a molecular model for the mechanisms of functional neuronal decline seen in many human neurodegenerative disorders (Senti 2008)