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Aliases for PNPLA6 Gene

Aliases for PNPLA6 Gene

  • Patatin-Like Phospholipase Domain Containing 6 2 3
  • NTE 3 4 6
  • Patatin-Like Phospholipase Domain-Containing Protein 6 3 4
  • Neuropathy Target Esterase 2 3
  • EC 3.1.1.5 4 64
  • NTEMND 3 6
  • SPG39 3 6
  • BNHS 3 6
  • IPLA2delta 3
  • LNMS 3
  • OMCS 3
  • SWS 3

External Ids for PNPLA6 Gene

Summaries for PNPLA6 Gene

Entrez Gene Summary for PNPLA6 Gene

  • This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for PNPLA6 Gene

PNPLA6 (Patatin-Like Phospholipase Domain Containing 6) is a Protein Coding gene. Diseases associated with PNPLA6 include spastic paraplegia 39, autosomal recessive and spastic paraplegia 39. Among its related pathways are Glycerophospholipid biosynthesis. GO annotations related to this gene include lysophospholipase activity. An important paralog of this gene is PNPLA7.

UniProtKB/Swiss-Prot for PNPLA6 Gene

  • Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.

Gene Wiki entry for PNPLA6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA6 Gene

Genomics for PNPLA6 Gene

Genomic Location for PNPLA6 Gene

Start:
7,534,004 bp from pter
End:
7,561,767 bp from pter
Size:
27,764 bases
Orientation:
Plus strand

Genomic View for PNPLA6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PNPLA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA6 Gene

Regulatory Elements for PNPLA6 Gene

Proteins for PNPLA6 Gene

  • Protein details for PNPLA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY17-PLPL6_HUMAN
    Recommended name:
    Neuropathy target esterase
    Protein Accession:
    Q8IY17
    Secondary Accessions:
    • A6NGQ0
    • B4DFB9
    • B7Z7T2
    • F5H5K9
    • J3KQS3
    • O60859
    • Q86W58
    • Q9UG58

    Protein attributes for PNPLA6 Gene

    Size:
    1366 amino acids
    Molecular mass:
    149995 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PNPLA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA6 Gene

Proteomics data for PNPLA6 Gene at MOPED

Post-translational modifications for PNPLA6 Gene

Domains for PNPLA6 Gene

Gene Families for PNPLA6 Gene

HGNC:
  • PNPLA :Patatin-like phospholipase domain containing

UniProtKB/Swiss-Prot:

PLPL6_HUMAN
Domain:
  • Contains 3 cyclic nucleotide-binding domains.:
    • Q8IY17
  • Contains 1 patatin domain.:
    • Q8IY17
Family:
  • Belongs to the NTE family.:
    • Q8IY17
genes like me logo Genes that share domains with PNPLA6: view

Function for PNPLA6 Gene

Molecular function for PNPLA6 Gene

UniProtKB/Swiss-Prot CatalyticActivity: 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.
UniProtKB/Swiss-Prot Function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.

Enzyme Numbers (IUBMB) for PNPLA6 Gene

Gene Ontology (GO) - Molecular Function for PNPLA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity IBA --
genes like me logo Genes that share ontologies with PNPLA6: view
genes like me logo Genes that share phenotypes with PNPLA6: view

miRNA for PNPLA6 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PNPLA6 Gene

Localization for PNPLA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA6 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein; Cytoplasmic side. Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNPLA6 Gene COMPARTMENTS Subcellular localization image for PNPLA6 gene
Compartment Confidence
endoplasmic reticulum 5

Gene Ontology (GO) - Cellular Components for PNPLA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PNPLA6: view

Pathways for PNPLA6 Gene

SuperPathways for PNPLA6 Gene

genes like me logo Genes that share pathways with PNPLA6: view

Pathways by source for PNPLA6 Gene

1 KEGG pathway for PNPLA6 Gene

Gene Ontology (GO) - Biological Process for PNPLA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006629 lipid metabolic process --
GO:0008152 metabolic process --
GO:0008219 cell death --
GO:0009887 organ morphogenesis IEA --
genes like me logo Genes that share ontologies with PNPLA6: view

Compounds for PNPLA6 Gene

(1085) HMDB Compounds for PNPLA6 Gene

Compound Synonyms Cas Number PubMed IDs
Arachidic acid
  • Arachate
506-30-9
Arachidonic acid
  • 5,8,11,14-Eicosatetraenoic acid
506-32-1
Glycerophosphocholine
  • 2-[[(2,3-dihydroxypropoxy)hydroxyphosphinyl]oxy]-N,N,N-trimethyl-Ethanaminium inner salt
28319-77-9
Heptadecanoic acid
  • Heptadecanoate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl coenzyme A
3546-17-6

(42) Novoseek inferred chemical compound relationships for PNPLA6 Gene

Compound -log(P) Hits PubMed IDs
mipafox 98.1 45
phenyl valerate 97.8 25
phenyl-n-methyl-n-benzylcarbamate 94.7 2
tocp 93.4 22
dibutyl 2,2-dichlorovinyl phosphate 92.7 3
genes like me logo Genes that share compounds with PNPLA6: view

Transcripts for PNPLA6 Gene

Unigene Clusters for PNPLA6 Gene

Patatin-like phospholipase domain containing 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a ·
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: - - - -
SP8: -
SP9:
SP10:
SP11: - - - - -
SP12: - -
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19: -
SP20:

ExUns: 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32a ·
SP1:
SP2: -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 32b ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:

Relevant External Links for PNPLA6 Gene

GeneLoc Exon Structure for
PNPLA6
ECgene alternative splicing isoforms for
PNPLA6

Expression for PNPLA6 Gene

mRNA expression in normal human tissues for PNPLA6 Gene

mRNA differential expression in normal tissues according to GTEx for PNPLA6 Gene

This gene is overexpressed in Whole Blood (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PNPLA6 Gene

SOURCE GeneReport for Unigene cluster for PNPLA6 Gene Hs.631863

mRNA Expression by UniProt/SwissProt for PNPLA6 Gene

Q8IY17-PLPL6_HUMAN
Tissue specificity: Expressed in brain, placenta, kidney, neuron and skeletal muscle.
genes like me logo Genes that share expressions with PNPLA6: view

Orthologs for PNPLA6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNPLA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNPLA6 36
  • 99.3 (n)
  • 99.55 (a)
PNPLA6 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PNPLA6 36
  • 88.96 (n)
  • 95.9 (a)
PNPLA6 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA6 36
  • 89.24 (n)
  • 97.34 (a)
PNPLA6 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpla6 36
  • 86.47 (n)
  • 96.27 (a)
Pnpla6 16
Pnpla6 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNPLA6 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA6 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpla6 36
  • 86.93 (n)
  • 96.8 (a)
chicken
(Gallus gallus)
Aves PNPLA6 36
  • 78.33 (n)
  • 83.35 (a)
PNPLA6 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPLA6 37
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC560986 36
  • 69.82 (n)
  • 76.54 (a)
pnpla6 37
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sws 37
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M110.7 37
  • 32 (a)
ManyToMany
ZK370.4 37
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTE1 37
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToMany
Species with no ortholog for PNPLA6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PNPLA6 Gene

ENSEMBL:
Gene Tree for PNPLA6 (if available)
TreeFam:
Gene Tree for PNPLA6 (if available)

Paralogs for PNPLA6 Gene

Paralogs for PNPLA6 Gene

Selected SIMAP similar genes for PNPLA6 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for PNPLA6 Gene

genes like me logo Genes that share paralogs with PNPLA6: view

Variants for PNPLA6 Gene

Sequence variations from dbSNP and Humsavar for PNPLA6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs89621 -- 7,559,579(+) CATGC(C/T)TGTAA intron-variant
rs472709 -- 7,552,174(+) GGATT(G/T)TTGTT intron-variant
rs473899 -- 7,551,461(+) AGAGC(A/G/T)TGCTG intron-variant
rs477246 -- 7,557,098(+) CCGTC(A/G)GGCCG intron-variant
rs480208 -- 7,553,027(+) AGGTG(A/G)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PNPLA6 Gene

Variant ID Type Subtype PubMed ID
esv2751809 CNV Gain 17911159
nsv910957 CNV Loss 21882294
dgv3710n71 CNV Loss 21882294
nsv910962 CNV Loss 21882294
nsv910963 CNV Loss 21882294
nsv833730 CNV Loss 17160897
dgv3712n71 CNV Loss 21882294
nsv910969 CNV Loss 21882294
nsv910970 CNV Loss 21882294
dgv3713n71 CNV Loss 21882294
dgv3714n71 CNV Loss 21882294
nsv910974 CNV Loss 21882294
nsv910975 CNV Loss 21882294

Relevant External Links for PNPLA6 Gene

HapMap Linkage Disequilibrium report
PNPLA6
Human Gene Mutation Database (HGMD)
PNPLA6

Disorders for PNPLA6 Gene

(2) OMIM Diseases for PNPLA6 Gene (603197)

UniProtKB/Swiss-Prot

PLPL6_HUMAN
  • Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. {ECO:0000269 PubMed:18313024, ECO:0000269 PubMed:24355708}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Boucher-Neuhauser syndrome (BNHS) [MIM:215470]: An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. {ECO:0000269 PubMed:24355708}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for PNPLA6 Gene

(7) Novoseek inferred disease relationships for PNPLA6 Gene

Disease -log(P) Hits PubMed IDs
polyneuropathy 81 28
poisoning 47.3 7
paralysis 45.3 5
intoxication 25.6 3
neuropathology 5.66 2

Relevant External Links for PNPLA6

Genetic Association Database (GAD)
PNPLA6
Human Genome Epidemiology (HuGE) Navigator
PNPLA6
genes like me logo Genes that share disorders with PNPLA6: view

Publications for PNPLA6 Gene

  1. Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man. (PMID: 9576844) Lush M.J. … Glynn P. (Biochem. J. 1998) 2 3 4 23
  2. Neuropathy target esterase gene mutations cause motor neuron disease. (PMID: 18313024) Rainier S. … Fink J.K. (Am. J. Hum. Genet. 2008) 3 4 23
  3. Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells. (PMID: 15044461) Zaccheo O. … Glynn P. (J. Biol. Chem. 2004) 3 4
  4. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. (PMID: 24355708) Synofzik M. … ZA1chner S. (Brain 2014) 3 4
  5. Neural development and neurodegeneration: two faces of neuropathy target esterase. (PMID: 10759065) Glynn P. (Prog. Neurobiol. 2000) 3 23

Products for PNPLA6 Gene

Sources for PNPLA6 Gene

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