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FLASH GENE

Symbol

PNPLA6

contributors: npt/shn - updated : 25-09-2012

HGNC name	patatin-like phospholipase domain containing 6
HGNC id	16268

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG39 spastic paraplegia 39
Location	19p13.2      Physical location : 7.599.037 - 7.626.653
Synonym name	neuropathy target esterase
	patatin-like phospholipase domain-containing protein 6
Synonym symbol(s)	NTE, sws, NTEMND, SPG39, iPLA2delta
EC.number	3.1.1.5

DNA

TYPE	functioning gene
STRUCTURE	27.61 kb     33 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D19S567 - D19S873 - PNPLA6 - D19S905 - D19S912 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006702 33 splicing 4490 NP_006693 146.08 1327 - - NM_001166112 32 splicing 4526 NP_001159584 - 1300 - - NM_001166111 32 splicing 4591 NP_001159583 - 1375 - - NM_001166113 32 splicing 4478 NP_001159585 - 1327 - - NM_001166114 31 splicing 4407 NP_001159586 - 1365 - -

EXPRESSION

Type	ubiquitous

constitutive of

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       highly Reproductive male system testis     highly Respiratory respiratory tract trachea     highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four transmembrane domains and multiple potential sites for N and O linked glycosylation
	three cyclic nucleotide-binding domains

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Pnpla6, Mus musculus
	ortholog to Pnpla6, Rattus norvegicus
	ortholog to PNPLA6, Pan troglodytes

Homologene

FAMILY	patatin-like phospholipase family
	NTE family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
	intracellular,nucleus
text	associated with the ER of hippocampal neurons

basic FUNCTION	involved in the regulation of interactions between neurons and glia in the developing brain
	contributing to neurogdegenerative disease characterized by vacuolation and neuronal loss
	play a role in neurite outgrowth and process elongation during neurodifferentiation
	may be involved in intracellular membrane trafficking
	important role in motor neuron development and implicated overexpression of BMP signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

inhibited by

protein kinase C activation with phorbol 12-myristate 13-acetate (PMA) stimulation

ASSOCIATED DISORDERS

corresponding disease(s)

SPG39

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   LOH     in vacuolar pathology of the nervous system

Susceptibility

to organophosphorus compound-induced delayed neuropathy

Variant & Polymorphism other	mutation increasing the risk of organophosphorus compound-induced delayed neuropathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Nte(-/-) mice die after embryonic day 8, and Nte(+/-) mice have lower activity of Nte in the brain and higher mortality when exposed to the Nte-inhibiting compound ethyl octylphosphonofluoridate
	Heterozygous NTE(+/-) mice displayed a 50% reduction in NTE activity but underwent normal organ development while NTE(-/-) mice died at embryonic day 9 postcoitum
	PNPLA6 insufficiency using morpholino oligonucleotide knockdown in zebrafish results in developmental abnormalities and motor neuron defects including axon truncation and branching