Homo sapiens Gene: PNPLA6
Summary
InnateDB Gene IDBG-22916.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNPLA6
Gene Name patatin-like phospholipase domain containing 6
Synonyms BNHS; iPLA2delta; NTE; NTEMND; SPG39; sws;
Species Homo sapiens
Ensembl Gene ENSG00000032444
Encoded Proteins
patatin-like phospholipase domain containing 6
patatin-like phospholipase domain containing 6
patatin-like phospholipase domain containing 6
patatin-like phospholipase domain containing 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:7534004-7561764
Strand Forward strand
Band p13.2
Transcripts
ENST00000221249 ENSP00000221249
ENST00000414982 ENSP00000407509
ENST00000450331 ENSP00000394348
ENST00000545201 ENSP00000443323
ENST00000599947 ENSP00000469171
ENST00000599311
ENST00000595176
ENST00000594551 ENSP00000470060
ENST00000600942 ENSP00000472572
ENST00000601001 ENSP00000472631
ENST00000602191
ENST00000593924 ENSP00000469794
ENST00000598462
ENST00000600737 ENSP00000473211
ENST00000594754
ENST00000596515 ENSP00000470461
ENST00000595889
ENST00000594098
ENST00000595264 ENSP00000472456
ENST00000599951
ENST00000601668 ENSP00000470608
ENST00000595352
ENST00000597202
ENST00000594864
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 4 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004622 lysophospholipase activity
Biological Process
GO:0001525 angiogenesis
GO:0006629 lipid metabolic process
GO:0008152 metabolic process
GO:0008219 cell death
GO:0009887 organ morphogenesis
GO:0016042 lipid catabolic process
GO:0046470 phosphatidylcholine metabolic process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Glycerophospholipid metabolism pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.631863
RefSeq NM_001166111 NM_001166112 NM_001166113 NM_001166114 NM_006702
HUGO
OMIM
CCDS CCDS32891 CCDS54206 CCDS54207 CCDS59343
HPRD 04432
IMGT
EMBL
GenPept
RNA Seq Atlas