Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000135241 Gene ID 50640 Accession 28900
Symbol PNPLA8 Alias MMLA;IPLA2G;IPLA2-2;iPLA2gamma;PNPLA-gamma Full Name patatin like phospholipase domain containing 8
Status Confidence Length 57745 bases Strand Minus strand
Position 7 : 108470417 - 108528161 RNA binding domain N.A.
Summary This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
PNPLA8-204 ENST00000426128 4268 720aa ENSP00000394988
PNPLA8-201 ENST00000257694 4569 782aa ENSP00000257694
PNPLA8-203 ENST00000422087 3530 782aa ENSP00000410804
PNPLA8-208 ENST00000453144 3366 682aa ENSP00000387789
PNPLA8-206 ENST00000436062 3462 782aa ENSP00000406779
PNPLA8-207 ENST00000453085 2326 639aa ENSP00000402274
PNPLA8-211 ENST00000483879 711 No protein -
PNPLA8-210 ENST00000476592 660 No protein -
PNPLA8-209 ENST00000462466 557 No protein -
PNPLA8-212 ENST00000489738 426 No protein -
PNPLA8-205 ENST00000427008 735 192aa ENSP00000406033
PNPLA8-202 ENST00000415498 568 55aa ENSP00000391872

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
50755Child Development Disorders, Pervasive5.9112000E-006-
51472Child Development Disorders, Pervasive5.0153000E-006-
101669Bronchodilator Agents8E-726634245
101670Lung Volume Measurements8E-726634245

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0001516involved_in prostaglandin biosynthetic process1IDAHomo_sapiens(9606)Process
GO:0004622enables lysophospholipase activity1IEAHomo_sapiens(9606)Function
GO:0005524enables ATP binding1NASHomo_sapiens(9606)Function
GO:0005739located_in mitochondrion1ISSHomo_sapiens(9606)Component
GO:0005777located_in peroxisome1IDAHomo_sapiens(9606)Component
GO:0005778located_in peroxisomal membrane1IDAHomo_sapiens(9606)Component
GO:0005789located_in endoplasmic reticulum membrane1TASHomo_sapiens(9606)Component
GO:0006631involved_in fatty acid metabolic process1IDAHomo_sapiens(9606)Process
GO:0008970enables phospholipase A1 activity1IEAHomo_sapiens(9606)Function
GO:0016020is_active_in membrane2IBA,IDAHomo_sapiens(9606)Component
GO:0019369involved_in arachidonic acid metabolic process2IBA,IDAHomo_sapiens(9606)Process
GO:0031966located_in mitochondrial membrane1IEAHomo_sapiens(9606)Component
GO:0032048involved_in cardiolipin metabolic process1IDAHomo_sapiens(9606)Process
GO:0034638involved_in phosphatidylcholine catabolic process1IDAHomo_sapiens(9606)Process
GO:0035556involved_in intracellular signal transduction1IDAHomo_sapiens(9606)Process
GO:0043651involved_in linoleic acid metabolic process1IDAHomo_sapiens(9606)Process
GO:0046338involved_in phosphatidylethanolamine catabolic process1IDAHomo_sapiens(9606)Process
GO:0047499enables calcium-independent phospholipase A2 activity3IBA,IDA,IMPHomo_sapiens(9606)Function
GO:0050482involved_in arachidonic acid secretion1IDAHomo_sapiens(9606)Process
GO:0055088involved_in lipid homeostasis1IMPHomo_sapiens(9606)Process
GO:0070328involved_in triglyceride homeostasis1IMPHomo_sapiens(9606)Process
GO:0102545enables phosphatidyl phospholipase B activity1IEAHomo_sapiens(9606)Function
GO:1900407involved_in regulation of cellular response to oxidative stress1IEAHomo_sapiens(9606)Process

Expression