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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
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
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PNPLA8
CDC HuGE Published Literature: PNPLA8
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
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
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.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
Gene Ontology (GO) Annotations with Structured Vocabulary
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
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.1UCSC ID: uc003vfj.2RefSeq 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:
10 CDS single in 3' UTR:
no
RNA size:
4701
ORF size:
2349 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
4566.00 frame 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.