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FLASH GENE

Symbol

CEP164

contributors: mct/npt/pgu - updated : 02-02-2020

HGNC name	centrosomal protein 164 kDa
HGNC id	29182

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NPHP15 nephronophthisis 15
Location	11q23.3      Physical location : 117.198.570 - 117.283.980
Synonym name	KIAA1052 protein
Synonym symbol(s)	KIAA1052, FLJ54767

DNA

TYPE	functioning gene
STRUCTURE	96.92 kb     33 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_014956 33 - 5629 NP_055771 164 1460 - 2008 18283122 NM_001271933 32 - 5550 NP_001258862 - 1455 - 2008 18283122

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 Nervous brain hindbrain cerebellum     Homo sapiens Urinary kidney         Homo sapiens Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,nucleoplasm
text	could be localized to the distal appendages of mature centrioles, and persisted at centrioles throughout mitosis

basic FUNCTION	indispensable for primary cilia formation
	mediator protein, having a critical role in G2/M checkpoint and nuclear divisions
	key player in the DNA damage-activated signaling cascade
	chromatin binding mediator protein functioning in ATR-mediated checkpoint activation upon UV damage
	indispensable for the docking of vesicles at the mother centriole
	is targeted to the apical domain of the mother centriole to provide the molecular link between the mother centriole and the membrane biogenesis machinery that initiates cilia formation
	is a component of the distal appendages carried by the mother centriole that is required for primary cilium formation
	CEP164 is critical for multiciliogenesis, at least in part, via its regulation of small vesicle recruitment, ciliary vesicle formation, and basal body docking
	conserved role for CEP164 throughout the development of numerous organs

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with both ATR and ATM
	interactions of INPP5E with several ciliary and centrosomal proteins, including a recently identified ciliopathy protein centrosomal protein 164 (CEP164)
	components of the vesicular transport machinery, the GEF RAB3IP and the GTPase RAB8A, are interacting partners of CEP164
	CEP83 specifically localizes to the distal end of the mother centriole and interacts with CEP164, a distal appendage component
	one of the major functions of CEP164 in ciliogenesis is to recruit active TTBK2 to centrioles
	TTBK2 has the potential to effectively phosphorylate CEP164 and CEP97 and inhibits the interaction between CEP164 and its binding partner DVL3 (an important regulator of ciliogenesis) in a kinase activity-dependent manner
	CEP164 is necessary for the proper recruitment of another distal appendage/transition fiber protein Chibby1 (CBY1) and its binding partners CIBAR1 and CIBAR2 to the ciliary base in multiciliated cells
	NME3 binds to several NPHPs, including NEK8, CEP164, and ankyrin repeat and sterile &
	945; motif domain-containing 6 (ANKS6)
	RABL2A, RABL2B recruitment to the mother centriole is dependent on the distal appendage proteins CEP164 and CEP83

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NPHP15

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     collecting duct-specific deletion of CEP164 abolished primary cilia from the collecting duct epithelium and led to rapid postnatal cyst growth in the kidneys

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

administration of roscovitine, a cell cycle inhibitor, blocked cyst growth in the cortical collecting ducts and preserved kidney parenchyma in Cep164 knockout mice