Gene/Proteome Database (LMPD)
LMPD ID
LMP006638
Gene ID
Species
Homo sapiens (Human)
Gene Name
patatin-like phospholipase domain containing 2
Gene Symbol
Synonyms
1110001C14Rik; ATGL; PEDF-R; TTS-2.2; TTS2; iPLA2zeta
Alternate Names
patatin-like phospholipase domain-containing protein 2; TTS2.2; desnutrin; IPLA2-zeta; triglyceride hydrolase; adipose triglyceride lipase; transport-secretion protein 2.2; pigment epithelium-derived factor; calcium-independent phospholipase A2; patatin-like phospholipase domain containing protein 2
Chromosome
11
Map Location
11p15.5
EC Number
3.1.1.3
Summary
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
Orthologs
Proteins
| patatin-like phospholipase domain-containing protein 2 | |
|---|---|
| Refseq ID | NP_065109 |
| Protein GI | 32698724 |
| UniProt ID | Q96AD5 |
| mRNA ID | NM_020376 |
| Length | 504 |
| RefSeq Status | REVIEWED |
| MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIYGASAGALTATALVTGVCLGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKVLPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQLAGPAPLLSTPAPEARPVIGALGL | |
Gene Information
Entrez Gene ID
Gene Name
patatin-like phospholipase domain containing 2
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005829 | IEA:Ensembl | C | cytosol |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0043231 | IDA:HPA | C | intracellular membrane-bounded organelle |
| GO:0005811 | IDA:UniProtKB | C | lipid particle |
| GO:0005886 | IEA:UniProtKB-KW | C | plasma membrane |
| GO:0004806 | ISS:UniProtKB | F | triglyceride lipase activity |
| GO:0036155 | TAS:Reactome | P | acylglycerol acyl-chain remodeling |
| GO:0046474 | TAS:Reactome | P | glycerophospholipid biosynthetic process |
| GO:0034389 | IEA:Ensembl | P | lipid particle organization |
| GO:0019915 | IEA:Ensembl | P | lipid storage |
| GO:0010891 | IDA:UniProtKB | P | negative regulation of sequestering of triglyceride |
| GO:0006644 | TAS:Reactome | P | phospholipid metabolic process |
| GO:0010898 | IDA:UniProtKB | P | positive regulation of triglyceride catabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0019433 | IEA:UniProtKB-UniPathway | P | triglyceride catabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa00561 | Glycerolipid metabolism |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_121122 | Acyl chain remodeling of DAG and TAG |
Domain Information
UniProt Annotations
Entry Information
Gene Name
patatin-like phospholipase domain containing 2
Protein Entry
PLPL2_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96AD5-1; Sequence=Displayed; Name=2; IsoId=Q96AD5-2; Sequence=VSP_026421; Note=No experimental confirmation available.; |
| Biophysicochemical Properties | pH dependence: Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine as substrate. ; |
| Catalytic Activity | Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. |
| Developmental Stage | Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. {ECO |
| Disease | Neutral lipid storage disease with myopathy (NLSDM) [MIM |
| Disease | Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. |
| Enzyme Regulation | Inhibited by BEL ((E)-6-(bromomethylene)-3-(1- naphthalenyl)-2H-tetrahydropyran-2-one), a suicide substrate inhibitor. No differences in enzymatic activity that uses (1,2- dilinoleoyl)-phosphatidylcholine as substrate was detected in the presence or absence of ATP. Activated by ABHD5 and SERPINF1. |
| Function | Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion. {ECO |
| Pathway | Glycerolipid metabolism; triacylglycerol degradation. |
| Polymorphism | Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. |
| Ptm | Phosphorylation at Ser-404 by PKA is increased during fasting and moderate intensity exercise, and moderately increases lipolytic activity (By similarity). Phosphorylation at Ser-404 is increased upon beta-adrenergic stimulation. {ECO |
| Sequence Caution | Sequence=AAP34448.1; Type=Frameshift; Positions=501; Evidence= ; Sequence=CAC01131.1; Type=Erroneous initiation; Evidence= ; Sequence=CAC01132.1; Type=Erroneous initiation; Evidence= ; |
| Similarity | Contains 1 patatin domain. |
| Subcellular Location | Lipid droplet. Cell membrane; Single-pass type II membrane protein. |
| Subunit | Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity (By similarity). Interacts with SERPINF1; interacts at one site of interaction. Despite a colocalization in lipid droplets, it probably does not interact with PLIN (By similarity). Interacts with PLIN5; prevents interaction with ABHD5 (By similarity). |
| Tissue Specificity | Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). {ECO |
Identical and Related Proteins
Unique RefSeq proteins for LMP006638 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 32698724 | RefSeq | NP_065109 | 504 | patatin-like phospholipase domain-containing protein 2 |
Identical Sequences to LMP006638 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:32698724 | DBBJ | BAI45962.1 | 504 | patatin-like phospholipase domain containing protein 2, partial [synthetic construct] |
| GI:32698724 | GenBank | AAH17280.1 | 504 | Patatin-like phospholipase domain containing 2 [Homo sapiens] |
| GI:32698724 | GenBank | AEU43335.1 | 504 | Sequence 84 from patent US 8052970 |
| GI:32698724 | GenBank | AEU43488.1 | 504 | Sequence 237 from patent US 8052970 |
| GI:32698724 | GenBank | AIC56852.1 | 504 | PNPLA2, partial [synthetic construct] |
| GI:32698724 | SwissProt | Q96AD5.1 | 504 | RecName: Full=Patatin-like phospholipase domain-containing protein 2; AltName: Full=Adipose triglyceride lipase; AltName: Full=Calcium-independent phospholipase A2; AltName: Full=Desnutrin; AltName: Full=IPLA2-zeta; AltName: Full=Pigment epithelium-derived factor; AltName: Full=TTS2.2; AltName: Full=Transport-secretion protein 2; Short=TTS2 [Homo sapiens] |
Related Sequences to LMP006638 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:32698724 | GenBank | EAX02396.1 | 504 | patatin-like phospholipase domain containing 2, isoform CRA_b [Homo sapiens] |
| GI:32698724 | GenBank | ACM97577.1 | 510 | Sequence 2 from patent US 7473541 |
| GI:32698724 | GenBank | ACM97579.1 | 504 | Sequence 6 from patent US 7473541 |
| GI:32698724 | GenBank | ADU85972.1 | 504 | patatin-like phospholipase domain containing 2 [Homo sapiens] |
| GI:32698724 | GenBank | AEZ01596.1 | 504 | patatin-like phospholipase domain containing protein 2 [Homo sapiens] |
| GI:32698724 | GenBank | AIB55759.1 | 504 | patatin-like phospholipase domain-containing protein 2 [Homo sapiens] |