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FLASH GENE

Symbol

PLCD1

contributors: mct - updated : 01-02-2010

HGNC name	phospholipase C, delta 1
HGNC id	9060

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LKN hereditary leukonychia, or porcelain nails
Location	3p22.2      Physical location : 38.048.988 - 38.071.154
Synonym name	phosphoinositide phospholipase C
Synonym symbol(s)	PLC-III, PLC-delta-1
EC.number	3.1.4.11

DNA

TYPE	functioning gene
STRUCTURE	22.17 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130964 15 - 2976 NP_001124436 - 777 - 2009 19344632 NM_006225 15 - 2683 NP_006216 - 756 - 2009 19344632

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 Lymphoid/Immune spleen       highly   thymus       highly Nervous brain       highly Reproductive male system testis     highly Respiratory respiratory tract trachea

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a CaM-like region in its N-terminus, capable of binding directly to RAlA
	a pleckstrin homology (PH)
	two helical EF-hand domain
	a catalytic domains
	a C2 domain
	a PI-PLC x-box domain
	a PI-PLC y-box domain

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	accumulates in the nucleus when its nuclear export signal sequence is disrupted
	an increase in the levels of intracellular Ca2+ shifts the equilibrium to the nuclear import of PLCD1

basic FUNCTION	catalyzing the hydrolysis of phosphatidylinositol 4,5 biphosphate to generate diacylglycerol and inositol 1,4,5 triphosphate
	mediating a wide variety of cellular stimuli
	shuttles between the nucleus and the cytoplasm, and nuclear import1 is mediated by its Ca2+-dependent interaction with importin beta1
	plays an important suppressive role in the development and progression of ESCC (esophageal squamous cell carcinoma)
	mediates regulatory signaling of energy metabolism, calcium homeostasis and intracellular movements
	acts as a functional tumor suppressor involved in gastric carcinogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	binds three calcium ions per subunit, two of the calcium ions are bound to the C2 domain

protein

activity of PLCD1 is controlled by the amount of bound PLCB2 that changes with displacement of the enzyme by heterotrimeric or small G proteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LKN

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         in esophageal squamous cell carcinoma (ESCC) tumoral     --other   ectopic expression in silenced gastric tumor cells dramatically inhibited their clonogenicity and migration

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS