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FLASH GENE

Symbol

CEP104

contributors: mct - updated : 09-12-2017

HGNC name	centrosomal protein 104
HGNC id	24866

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	JBTS25 Joubert syndrome 25
Location	1p36.32      Physical location : -
Synonym name	glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein
	KIAA0562
Synonym symbol(s)	RP1-286D6.4, KIAA0562, GLYBP, ROC22, JBTS25, CFAP256

DNA

TYPE	functioning gene
STRUCTURE	45.15 kb     22 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_014704 22 - 6458 104 925 - 2008 18710260

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 Nervous brain         Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two glycosylation sites
	three hydrophobic domains
	four cysteine-rich motifs (C-X2-C-X16-20-C-X5-11)
	a tubulin-binding TOG (tumor overexpressed gene) domain
	and a novel C2HC zinc finger array

HOMOLOGY

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	membrane-associated
	localizes on the distal ends of both centrioles of nondividing cells until the mother centriole forms a cilium and then localizes at the tip of the elongating cilium
	moves from the mother centriole to the tip of the primary cilium during ciliogenesis
	localizes on both mother and daughter centrioles in non-ciliated retinal pigment epithelial (RPE1) cells but only on the daughter centriole in ciliated cells

basic FUNCTION	may be isolated as a soluble or membrane-associated assembly that serves as a structural and functional homologue of the extracellular domain (ECD) of GLRA1
	likely acts early during cilia formation by regulating the conversion of the mother centriole into the cilia basal body
	key player in the regulation of cilia formation, and is a novel tubulin-binding protein
	is a key factor involved in cilia formation and length regulation that rides on the ends of elongating and shrinking cilia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction of CEP104 with CCP110, CEP97, end-binding (EB) protein, and tubulin
	NEK1 competes for binding to CEP104 with the distal centriole-capping protein CCP110

cell & other

REGULATION

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	membrane-associated
	localizes on the distal ends of both centrioles of nondividing cells until the mother centriole forms a cilium and then localizes at the tip of the elongating cilium
	moves from the mother centriole to the tip of the primary cilium during ciliogenesis
	localizes on both mother and daughter centrioles in non-ciliated retinal pigment epithelial (RPE1) cells but only on the daughter centriole in ciliated cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

JBTS25

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS