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FLASH GENE

Symbol

CEP170

contributors: mct - updated : 27-04-2014

HGNC name	centrosomal protein 170kDa
HGNC id	28920

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_014812 20 - 7204 175.2 1584 - 2005 15616186 CEP170 alpha NM_001042404 19 - 6910 164 1486 - 2005 15616186 CEP170 beta lacking an alternate in-frame exon, resulting in a shorter protein NM_001042405 19 - 6832 161 1460 - 2005 15616186 CEP170 gamma has multiple differences in the coding region but maintains the reading frame

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         Respiratory lung         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one LISH domain

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to Xenopus APC
	ortholog to murine Cep170

Homologene

FAMILY

forkhead-associated (FHA) family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	associates with centrosomes during interphase and with spindle microtubules during mitosis

basic FUNCTION	may be playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus
	ZBTB18 is implicated with CEP170 as novel genes causative for corpus callosal abnormalities in patients with a terminal 1q deletion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	DKC1
	fibrillarin
	physiological substrate of PLK1 )
	binding partner of WDR62, which is of interest given the involvement of other centrosomal proteins in microcephaly
	CEP170 and CEP170B (KIAA0284) are specifically associating with KIF2B
	TBK1 binds to the centrosomal protein CEP170 and to the mitotic apparatus protein NUMA1, and both CEP170 and NUMA1 are TBK1 substrates

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	marker for maternal centrioles important to elucidate the pathogenesis of numerical centriole aberrations in tumor cells
Therapy target

ANIMAL & CELL MODELS