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Entry version 137 (13 Feb 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Patatin-like phospholipase domain-containing protein 2

Gene

PNPLA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674). 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 (PubMed:16239926). 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.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

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 SERPINF1.2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine as substrate.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: triacylglycerol degradation

This protein is involved in the pathway triacylglycerol degradation, which is part of Glycerolipid metabolism.
View all proteins of this organism that are known to be involved in the pathway triacylglycerol degradation and in Glycerolipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei47NucleophilePROSITE-ProRule annotation1
Active sitei166Proton acceptorPROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1482883 Acyl chain remodeling of DAG and TAG
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00256

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000311

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Patatin-like phospholipase domain-containing protein 2 (EC:3.1.1.3)
Alternative name(s):
Adipose triglyceride lipase
Calcium-independent phospholipase A2
Desnutrin
IPLA2-zeta
Pigment epithelium-derived factor
TTS2.2
Transport-secretion protein 2
Short name:
TTS2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PNPLA2
Synonyms:ATGL
ORF Names:FP17548
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000177666.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30802 PNPLA2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609059 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96AD5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 8CytoplasmicSequence analysis8
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei9 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini30 – 504LumenalSequence analysisAdd BLAST475

Keywords - Cellular componenti

Cell membrane, Lipid droplet, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2.1 Publication
Neutral lipid storage disease with myopathy (NLSDM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionNeutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells.
See also OMIM:610717
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_032995195P → L in NLSDM. 1 PublicationCorresponds to variant dbSNP:rs121918259EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi47S → A: Reduces rate of lipid hydrolysis; does not affect the localization around the rim of the adiposomes. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57104

MalaCards human disease database

More...
MalaCardsi
PNPLA2
MIMi610717 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000177666

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98908 Neutral lipid storage myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134903083

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3822353

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PNPLA2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74731110

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002925271 – 504Patatin-like phospholipase domain-containing protein 2Add BLAST504

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi39N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei372Phosphoserine; in vitroBy similarity1
Modified residuei404Phosphoserine; by PKA and FAM20CCombined sources2 Publications1
Modified residuei428PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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.By similarity1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96AD5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96AD5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96AD5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96AD5

PeptideAtlas

More...
PeptideAtlasi
Q96AD5

PRoteomics IDEntifications database

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PRIDEi
Q96AD5

ProteomicsDB human proteome resource

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ProteomicsDBi
75955
75956 [Q96AD5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96AD5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96AD5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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).4 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000177666 Expressed in 212 organ(s), highest expression level in subcutaneous adipose tissue

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96AD5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA055173
HPA062602

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity (By similarity). Interacts with SERPINF1; interacts at one site of interaction (PubMed:17032652). Despite a colocalization in lipid droplets, it probably does not interact with PLIN (By similarity). Interacts with PLIN5; prevents interaction with ABHD5 (By similarity). Interacts with FAF2 (PubMed:23297223).By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121370, 19 interactors

Protein interaction database and analysis system

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IntActi
Q96AD5, 7 interactors

Molecular INTeraction database

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MINTi
Q96AD5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000337701

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q96AD5

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini10 – 179PNPLAPROSITE-ProRule annotationAdd BLAST170

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi14 – 19GXGXXGPROSITE-ProRule annotation6
Motifi45 – 49GXSXGPROSITE-ProRule annotation5
Motifi166 – 168DGA/GPROSITE-ProRule annotation3

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3773 Eukaryota
ENOG410XSQS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160155

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG007046

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96AD5

KEGG Orthology (KO)

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KOi
K16816

Identification of Orthologs from Complete Genome Data

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OMAi
PWNISFA

Database of Orthologous Groups

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OrthoDBi
1204225at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96AD5

TreeFam database of animal gene trees

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TreeFami
TF314272

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07220 Pat_PNPLA2, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR033562 PLPL
IPR033903 PNPLA2
IPR002641 PNPLA_dom

The PANTHER Classification System

More...
PANTHERi
PTHR12406 PTHR12406, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01734 Patatin, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52151 SSF52151, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51635 PNPLA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q96AD5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFPREKTWNI SFAGCGFLGV YYVGVASCLR EHAPFLVANA THIYGASAGA
60 70 80 90 100
LTATALVTGV CLGEAGAKFI EVSKEARKRF LGPLHPSFNL VKIIRSFLLK
110 120 130 140 150
VLPADSHEHA SGRLGISLTR VSDGENVIIS HFNSKDELIQ ANVCSGFIPV
160 170 180 190 200
YCGLIPPSLQ GVRYVDGGIS DNLPLYELKN TITVSPFSGE SDICPQDSST
210 220 230 240 250
NIHELRVTNT SIQFNLRNLY RLSKALFPPE PLVLREMCKQ GYRDGLRFLQ
260 270 280 290 300
RNGLLNRPNP LLALPPARPH GPEDKDQAVE SAQAEDYSQL PGEDHILEHL
310 320 330 340 350
PARLNEALLE ACVEPTDLLT TLSNMLPVRL ATAMMVPYTL PLESALSFTI
360 370 380 390 400
RLLEWLPDVP EDIRWMKEQT GSICQYLVMR AKRKLGRHLP SRLPEQVELR
410 420 430 440 450
RVQSLPSVPL SCAAYREALP GWMRNNLSLG DALAKWEECQ RQLLLGLFCT
460 470 480 490 500
NVAFPPEALR MRAPADPAPA PADPASPQHQ LAGPAPLLST PAPEARPVIG

ALGL
Length:504
Mass (Da):55,316
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD9C16F942AB0B3C7
GO
Isoform 2 (identifier: Q96AD5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-324: Missing.

Note: No experimental confirmation available.
Show »
Length:180
Mass (Da):19,875
Checksum:i00655EB8A70EF89A
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAP34448 differs from that shown. Reason: Frameshift at position 501.Curated
The sequence CAC01131 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAC01132 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti163R → G in AAC09354 (Ref. 5) Curated1
Sequence conflicti296I → V in AAW81962 (PubMed:15550674).Curated1
Sequence conflicti333A → G in AAP34448 (PubMed:15498874).Curated1
Sequence conflicti351R → C in AAW81962 (PubMed:15550674).Curated1
Sequence conflicti402V → L in CAC01131 (Ref. 2) Curated1
Sequence conflicti402V → L in CAC01132 (Ref. 2) Curated1
Sequence conflicti419L → P in AAW81962 (PubMed:15550674).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in PNPLA2 may influence plasma free fatty acids and triglycerides levels, and fasting glucose concentrations.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032995195P → L in NLSDM. 1 PublicationCorresponds to variant dbSNP:rs121918259EnsemblClinVar.1
Natural variantiVAR_032996219L → F1 PublicationCorresponds to variant dbSNP:rs140612115Ensembl.1
Natural variantiVAR_032997252N → K1 PublicationCorresponds to variant dbSNP:rs140201358EnsemblClinVar.1
Natural variantiVAR_032998481L → P3 PublicationsCorresponds to variant dbSNP:rs1138693EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0264211 – 324Missing in isoform 2. 1 PublicationAdd BLAST324

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY894804 mRNA Translation: AAW81962.1
AJ278475 mRNA Translation: CAC01131.1 Different initiation.
AJ278476 mRNA Translation: CAC01132.1 Different initiation.
AY203925 mRNA Translation: AAP34448.1 Frameshift.
BC011958 mRNA Translation: AAH11958.1
BC017280 mRNA Translation: AAH17280.1
AF055000 mRNA Translation: AAC09354.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7718.1 [Q96AD5-1]

NCBI Reference Sequences

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RefSeqi
NP_065109.1, NM_020376.3 [Q96AD5-1]
XP_016873517.1, XM_017018028.1 [Q96AD5-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.654697

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000336615; ENSP00000337701; ENSG00000177666 [Q96AD5-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57104

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57104

UCSC genome browser

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UCSCi
uc001lrt.4 human [Q96AD5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY894804 mRNA Translation: AAW81962.1
AJ278475 mRNA Translation: CAC01131.1 Different initiation.
AJ278476 mRNA Translation: CAC01132.1 Different initiation.
AY203925 mRNA Translation: AAP34448.1 Frameshift.
BC011958 mRNA Translation: AAH11958.1
BC017280 mRNA Translation: AAH17280.1
AF055000 mRNA Translation: AAC09354.1
CCDSiCCDS7718.1 [Q96AD5-1]
RefSeqiNP_065109.1, NM_020376.3 [Q96AD5-1]
XP_016873517.1, XM_017018028.1 [Q96AD5-1]
UniGeneiHs.654697

3D structure databases

ProteinModelPortaliQ96AD5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121370, 19 interactors
IntActiQ96AD5, 7 interactors
MINTiQ96AD5
STRINGi9606.ENSP00000337701

Chemistry databases

ChEMBLiCHEMBL3822353
SwissLipidsiSLP:000000311

PTM databases

iPTMnetiQ96AD5
PhosphoSitePlusiQ96AD5

Polymorphism and mutation databases

BioMutaiPNPLA2
DMDMi74731110

Proteomic databases

EPDiQ96AD5
jPOSTiQ96AD5
MaxQBiQ96AD5
PaxDbiQ96AD5
PeptideAtlasiQ96AD5
PRIDEiQ96AD5
ProteomicsDBi75955
75956 [Q96AD5-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
57104
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336615; ENSP00000337701; ENSG00000177666 [Q96AD5-1]
GeneIDi57104
KEGGihsa:57104
UCSCiuc001lrt.4 human [Q96AD5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57104
DisGeNETi57104
EuPathDBiHostDB:ENSG00000177666.15

GeneCards: human genes, protein and diseases

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GeneCardsi
PNPLA2
HGNCiHGNC:30802 PNPLA2
HPAiHPA055173
HPA062602
MalaCardsiPNPLA2
MIMi609059 gene
610717 phenotype
neXtProtiNX_Q96AD5
OpenTargetsiENSG00000177666
Orphaneti98908 Neutral lipid storage myopathy
PharmGKBiPA134903083

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3773 Eukaryota
ENOG410XSQS LUCA
GeneTreeiENSGT00940000160155
HOVERGENiHBG007046
InParanoidiQ96AD5
KOiK16816
OMAiPWNISFA
OrthoDBi1204225at2759
PhylomeDBiQ96AD5
TreeFamiTF314272

Enzyme and pathway databases

UniPathwayi
UPA00256

ReactomeiR-HSA-1482883 Acyl chain remodeling of DAG and TAG
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PNPLA2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PNPLA2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57104

Protein Ontology

More...
PROi
PR:Q96AD5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000177666 Expressed in 212 organ(s), highest expression level in subcutaneous adipose tissue
GenevisibleiQ96AD5 HS

Family and domain databases

CDDicd07220 Pat_PNPLA2, 1 hit
InterProiView protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR033562 PLPL
IPR033903 PNPLA2
IPR002641 PNPLA_dom
PANTHERiPTHR12406 PTHR12406, 1 hit
PfamiView protein in Pfam
PF01734 Patatin, 1 hit
SUPFAMiSSF52151 SSF52151, 1 hit
PROSITEiView protein in PROSITE
PS51635 PNPLA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPLPL2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96AD5
Secondary accession number(s): O60643
, Q5EFF5, Q6XYE5, Q96ET6, Q9NQ61, Q9NQ62
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: December 1, 2001
Last modified: February 13, 2019
This is version 137 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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