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FLASH GENE

Symbol

CEP78

contributors: mct - updated : 19-10-2016

HGNC name	centrosomal protein 78kDa
HGNC id	25740

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CORDHL retinal cone-rod dystrophy with hearing loss
Location	9q21.2      Physical location : 80.850.990 - 80.881.982
Synonym name	chromosome 9 open reading frame 81
Synonym symbol(s)	FLJ12643, C9orf81, IP63

DNA

TYPE	functioning gene
STRUCTURE	42.37 kb     17 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_001098802 16 - 2767 NP_001092272 - 722 - 2011 21399614 NM_032171 15 - 2719 NP_115547 - 706 - 2011 21399614 NM_001330691 - - 3459 NP_001317620 - 705 - 2011 21399614 NM_001330693 - - 3391 NP_001317622 - 689 - 2011 21399614 NM_001330694 - - 2744 NP_001317623 - 705 - 2011 21399614

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 Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a leucine-rich repeat (LRR) region, which is composed of 20–29 AA sequence motifs that are present in many proteins that participate in protein-protein interactions and have different functions and cellular locations

HOMOLOGY

interspecies	homolog to rattus Ip63
	homolog to murine Cep78

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	mainly a centriolar protein that localizes to the centriolar wall

basic FUNCTION	may be involved in cell shape, polarity, motility and in cell division
	is required for PLK4-induced centriole overduplication
	ciliary protein, that might function as a tumor suppressor

CELLULAR PROCESS	cell cycle
	cell migration & motility

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interact with another centrosomal protein, C-Nap1, encoded by CEP250
	centrosomal protein and a new interaction partner of PLK4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CORDHL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colorectal cancer cells significantly reduced cell viability and colony formation and halted tumor growth

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	serve as a novel prognostic marker in Colorectal cancer
Therapy target

ANIMAL & CELL MODELS