Human Gene PNPLA8 (uc003vfj.2)
  Description: Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 3, mRNA.
RefSeq Summary (NM_001256008): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:108,110,866-108,166,762 Size: 55,897 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr7:108,112,845-108,155,935 Size: 43,091 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:108,110,866-108,166,762)mRNA (may differ from genome)Protein (782 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PLPL8_HUMAN
DESCRIPTION: RecName: Full=Calcium-independent phospholipase A2-gamma; EC=3.1.1.5; AltName: Full=Intracellular membrane-associated calcium-independent phospholipase A2 gamma; Short=iPLA2-gamma; AltName: Full=PNPLA-gamma; AltName: Full=Patatin-like phospholipase domain-containing protein 8; AltName: Full=iPLA2-2;
FUNCTION: Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.
CATALYTIC ACTIVITY: 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.
ENZYME REGULATION: Inhibited by E-6-bromomethylene-3-1- naphthalenyl-2H-tetrahydropyran-2-one (BEL).
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 8.0;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Golgi apparatus membrane; Single-pass membrane protein (By similarity). Cytoplasm, perinuclear region (By similarity).
TISSUE SPECIFICITY: Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal muscle and heart.
SIMILARITY: Contains 1 patatin domain.
SEQUENCE CAUTION: Sequence=AAF67630.1; Type=Erroneous initiation; Sequence=BAA92090.1; Type=Erroneous initiation; Sequence=EAL24384.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PNPLA8
CDC HuGE Published Literature: PNPLA8

-  MalaCards Disease Associations
  MalaCards Gene Search: PNPLA8
Diseases sorted by gene-association score: mitochondrial myopathy with lactic acidosis* (980), weaver syndrome (12), chanarin-dorfman syndrome (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C006780 bisphenol A
  • C068314 6-(bromomethylene)tetrahydro-3-(1-naphthaleneyl)-2H-pyran-2-one
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • D016572 Cyclosporine
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D002084 Butylated Hydroxytoluene
  • D002110 Caffeine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.90 RPKM in Adrenal Gland
Total median expression: 417.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -150.20373-0.403 Picture PostScript Text
3' UTR -473.331979-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016035 - Acyl_Trfase/lysoPLipase
IPR002641 - Patatin/PLipase_A2-rel

Pfam Domains:
PF01734 - Patatin-like phospholipase

SCOP Domains:
48371 - ARM repeat
52151 - FabD/lysophospholipase-like

ModBase Predicted Comparative 3D Structure on Q9NP80
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004622 lysophospholipase activity
GO:0004623 phospholipase A2 activity
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0047499 calcium-independent phospholipase A2 activity

Biological Process:
GO:0001516 prostaglandin biosynthetic process
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0008152 metabolic process
GO:0008219 cell death
GO:0016042 lipid catabolic process
GO:0019369 arachidonic acid metabolic process
GO:0034638 phosphatidylcholine catabolic process
GO:0036151 phosphatidylcholine acyl-chain remodeling
GO:0036152 phosphatidylethanolamine acyl-chain remodeling
GO:0043651 linoleic acid metabolic process
GO:0046338 phosphatidylethanolamine catabolic process
GO:0050482 arachidonic acid secretion

Cellular Component:
GO:0000139 Golgi membrane
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AL834147 - Homo sapiens mRNA; cDNA DKFZp761P18121 (from clone DKFZp761P18121).
AF263613 - Homo sapiens membrane-associated calcium-independent phospholipase A2 gamma mRNA, complete cds.
AK002115 - Homo sapiens cDNA FLJ11253 fis, clone PLACE1008867.
BC005203 - Homo sapiens cDNA clone IMAGE:4052705.
BX647865 - Homo sapiens mRNA; cDNA DKFZp313B0921 (from clone DKFZp313B0921).
BC032999 - Homo sapiens patatin-like phospholipase domain containing 8, mRNA (cDNA clone MGC:26092 IMAGE:4829433), complete cds.
AB041261 - Homo sapiens iPLA2 mRNA for calcium-independent phospholipase A2, complete cds.
AK291755 - Homo sapiens cDNA FLJ77572 complete cds, highly similar to Homo sapiens intracellular membrane-associated calcium-independent phospholipase A2 gamma (IPLA2(GAMMA)), mRNA.
KJ904736 - Synthetic construct Homo sapiens clone ccsbBroadEn_14130 PNPLA8 gene, encodes complete protein.
DQ890948 - Synthetic construct clone IMAGE:100003578; FLH167876.01X; RZPDo839G0790D patatin-like phospholipase domain containing 8 (PNPLA8) gene, encodes complete protein.
DQ894111 - Synthetic construct Homo sapiens clone IMAGE:100008571; FLH167872.01L; RZPDo839G0789D patatin-like phospholipase domain containing 8 (PNPLA8) gene, encodes complete protein.
AB463161 - Synthetic construct DNA, clone: pF1KB8695, Homo sapiens PNPLA8 gene for patatin-like phospholipase domain containing 8, without stop codon, in Flexi system.
AM392663 - Synthetic construct Homo sapiens clone IMAGE:100001941 for hypothetical protein (PNPLA8 gene).
AK024335 - Homo sapiens cDNA FLJ14273 fis, clone PLACE1004913.
JD504206 - Sequence 485230 from Patent EP1572962.
JD550712 - Sequence 531736 from Patent EP1572962.
AF217519 - Homo sapiens uncharacterized bone marrow protein BM043 mRNA, complete cds.
JD236651 - Sequence 217675 from Patent EP1572962.
JD284529 - Sequence 265553 from Patent EP1572962.
JD257988 - Sequence 239012 from Patent EP1572962.
JD349916 - Sequence 330940 from Patent EP1572962.
JD429323 - Sequence 410347 from Patent EP1572962.
JD498958 - Sequence 479982 from Patent EP1572962.
AF263947 - Homo sapiens membrane-associated calcium-independent phospholipase A2 gamma mRNA, partial cds, alternatively spliced.
JD302573 - Sequence 283597 from Patent EP1572962.
JD310719 - Sequence 291743 from Patent EP1572962.
JD437425 - Sequence 418449 from Patent EP1572962.
JD531200 - Sequence 512224 from Patent EP1572962.
JD073608 - Sequence 54632 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NP80 (Reactome details) participates in the following event(s):

R-HSA-1482816 PC is hydrolyzed to 1-acyl LPC by PLA2[6]
R-HSA-1482887 PE is hydrolyzed to 1-acyl LPE by PLA2[3]
R-HSA-1482788 Acyl chain remodelling of PC
R-HSA-1482839 Acyl chain remodelling of PE
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A4D0S1, BM-043, IPLA22, IPLA2G, NM_001256008, NP_001242940, O95035, PLPL8_HUMAN, Q8N3I3, Q9H7T5, Q9NP80, Q9NR17, Q9NUN2, Q9NZ79, uc003vfj.1
UCSC ID: uc003vfj.2
RefSeq Accession: NM_001256008
Protein: Q9NP80 (aka PLPL8_HUMAN)
CCDS: CCDS34733.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001256008.1
exon count: 10CDS single in 3' UTR: no RNA size: 4701
ORF size: 2349CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4566.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.