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UniProtKB - Q9NST1 (PLPL3_HUMAN)

Entry version 150 (08 May 2019)
Sequence version 2 (01 Mar 2002)
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Protein

1-acylglycerol-3-phosphate O-acyltransferase PNPLA3

Gene

PNPLA3

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

Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA (PubMed:22560221). Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides (PubMed:15364929, PubMed:20034933, PubMed:22560221).3 Publications

Caution

Variant Met-148 was initially reported to reduce triglyceride hydrolysis activity in vitro (PubMed:20034933). However further in vitro and in vivo data demonstrated that it actually does not affect triglyceride hydrolysis activity, but rather increases 1-acylglycerol-3-phosphate O-acyltransferase activity (PubMed:22560221).2 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 <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: Phospholipid metabolism

This protein is involved in Phospholipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in Phospholipid metabolism.

Pathwayi: Glycerolipid metabolism

This protein is involved in Glycerolipid metabolism.3 Publications
View all proteins of this organism that are known to be involved 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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionAcyltransferase, Hydrolase, Transferase
Biological processLipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid 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

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000282

<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:
1-acylglycerol-3-phosphate O-acyltransferase PNPLA31 Publication (EC:2.3.1.511 Publication)
Alternative name(s):
Acylglycerol transacylase1 Publication
Adiponutrin1 Publication
Short name:
ADPN1 Publication
Calcium-independent phospholipase A2-epsilon1 Publication
Short name:
iPLA2-epsilon1 Publication
Lysophosphatidic acid acyltransferase1 Publication
Patatin-like phospholipase domain-containing protein 31 Publication (EC:3.1.1.33 Publications)
<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:PNPLA32 PublicationsImported
Synonyms:ADPN1 Publication, C22orf20
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 22

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18590 PNPLA3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609567 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NST1

<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 & Seán O’Donoghue; 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 – 41CytoplasmicSequence analysisAdd BLAST41
<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>Transmembranei42 – 62Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini63 – 481LumenalSequence analysisAdd BLAST419

Keywords - Cellular componenti

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

Non-alcoholic fatty liver disease 1 (NAFLD1)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries.
See also OMIM:613282
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_07754376A → T in NAFLD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs746140741Ensembl.1
Natural variantiVAR_077544104A → V in NAFLD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_077545200T → M in NAFLD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs190477302Ensembl.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>Mutagenesisi15C → S: 65% loss of 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity. 1 Publication1
Mutagenesisi47S → A: No effect on 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity. 1 Publication1
Mutagenesisi206D → A: No effect on 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity. 1 Publication1
Mutagenesisi311P → G: 67% loss of 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Obesity

Organism-specific databases

DisGeNET

More...DisGeNETi		80339
MIMi613282 phenotype

Open Targets

More...OpenTargetsi		ENSG00000100344

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

More...Orphaneti		33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38592

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PNPLA3

Domain mapping of disease mutations (DMDM)

More...DMDMi		32469599

<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_00000644581 – 4811-acylglycerol-3-phosphate O-acyltransferase PNPLA3Add BLAST481

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>Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi280N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NST1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NST1

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

More...PaxDbi		Q9NST1

PeptideAtlas

More...PeptideAtlasi		Q9NST1

PRoteomics IDEntifications database

More...PRIDEi		Q9NST1

ProteomicsDB human proteome resource

More...ProteomicsDBi		82577
82578 [Q9NST1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NST1

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

More...PhosphoSitePlusi		Q9NST1

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding elevates the mRNA level.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100344 Expressed in 134 organ(s), highest expression level in pigmented layer of retina

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NST1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NST1 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA058058

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123247, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q9NST1, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000216180

<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

More...eggNOGi		KOG3773 Eukaryota
ENOG410XSQS LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155662

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007467

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NST1

KEGG Orthology (KO)

More...KOi		K13534

Identification of Orthologs from Complete Genome Data

More...OMAi		DALVCSC

Database of Orthologous Groups

More...OrthoDBi		1204225at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NST1

TreeFam database of animal gene trees

More...TreeFami		TF314272

Family and domain databases

Conserved Domains Database

More...CDDi		cd07221 Pat_PNPLA3, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR039185 Pat_PNPLA3
IPR033562 PLPL
IPR002641 PNPLA_dom

The PANTHER Classification System

More...PANTHERi		PTHR12406 PTHR12406, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01734 Patatin, 1 hit

Superfamily database of structural and functional annotation

More...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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NST1-1) [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
MYDAERGWSL SFAGCGFLGF YHVGATRCLS EHAPHLLRDA RMLFGASAGA 
        60         70         80         90        100
LHCVGVLSGI PLEQTLQVLS DLVRKARSRN IGIFHPSFNL SKFLRQGLCK 
       110        120        130        140        150
CLPANVHQLI SGKIGISLTR VSDGENVLVS DFRSKDEVVD ALVCSCFIPF 
       160        170        180        190        200
YSGLIPPSFR GVRYVDGGVS DNVPFIDAKT TITVSPFYGE YDICPKVKST 
       210        220        230        240        250
NFLHVDITKL SLRLCTGNLY LLSRAFVPPD LKVLGEICLR GYLDAFRFLE 
       260        270        280        290        300
EKGICNRPQP GLKSSSEGMD PEVAMPSWAN MSLDSSPESA ALAVRLEGDE 
       310        320        330        340        350
LLDHLRLSIL PWDESILDTL SPRLATALSE EMKDKGGYMS KICNLLPIRI 
       360        370        380        390        400
MSYVMLPCTL PVESAIAIVQ RLVTWLPDMP DDVLWLQWVT SQVFTRVLMC 
       410        420        430        440        450
LLPASRSQMP VSSQQASPCT PEQDWPCWTP CSPKGCPAET KAEATPRSIL 
       460        470        480 
RSSLNFFLGN KVPAGAEGLS TFPSFSLEKS L
Length:481
Mass (Da):52,865
Last modified:March 1, 2002 - v2
<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:i1ED0341B5AF5B6CB
GO
Isoform 2 (identifier: Q9NST1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     59-62: Missing.

Note: No experimental confirmation available.
Show »
Length:477
Mass (Da):52,485
Checksum:i1E9811016FDC88C1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W8E5F8W8E5_HUMAN
1-acylglycerol-3-phosphate O-acyltr...
PNPLA3
120Annotation score:

Annotation score:1 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>

<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

Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07754376A → T in NAFLD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs746140741Ensembl.1
Natural variantiVAR_01584599C → G1 PublicationCorresponds to variant dbSNP:rs2076213EnsemblClinVar.1
Natural variantiVAR_077544104A → V in NAFLD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_015846115G → C1 PublicationCorresponds to variant dbSNP:rs2076212EnsemblClinVar.1
Natural variantiVAR_019961148I → M Common polymorphism; associated with increased hepatic fat content and serum aspartate aminotransferase concentrations; increases 1-acylglycerol-3-phosphate O-acyltransferase activity 2-fold. 7 PublicationsCorresponds to variant dbSNP:rs738409EnsemblClinVar.1
Natural variantiVAR_077545200T → M in NAFLD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs190477302Ensembl.1
Natural variantiVAR_053814216T → P. Corresponds to variant dbSNP:rs35726887EnsemblClinVar.1
Natural variantiVAR_015847434K → E4 PublicationsCorresponds to variant dbSNP:rs2294918EnsemblClinVar.1
Natural variantiVAR_053815453S → I Common polymorphism; associated with lower hepatic fat content in African Americans. 1 PublicationCorresponds to variant dbSNP:rs6006460EnsemblClinVar.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_03622259 – 62Missing in isoform 2. 1 Publication4

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL138578 mRNA Translation: CAB71238.2
CR456476 mRNA Translation: CAG30362.1
AK123806 mRNA Translation: BAG53962.1
AK315166 mRNA Translation: BAG37610.1
AL023654 Genomic DNA No translation available.
AL035398 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73324.1
BC014449 mRNA Translation: AAH14449.2
BC065195 mRNA Translation: AAH65195.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14054.1 [Q9NST1-1]

NCBI Reference Sequences

More...RefSeqi		NP_079501.2, NM_025225.2 [Q9NST1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000216180; ENSP00000216180; ENSG00000100344 [Q9NST1-1]
ENST00000423180; ENSP00000397987; ENSG00000100344 [Q9NST1-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80339

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80339

UCSC genome browser

More...UCSCi		uc003bei.1 human [Q9NST1-1]

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
AL138578 mRNA Translation: CAB71238.2
CR456476 mRNA Translation: CAG30362.1
AK123806 mRNA Translation: BAG53962.1
AK315166 mRNA Translation: BAG37610.1
AL023654 Genomic DNA No translation available.
AL035398 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73324.1
BC014449 mRNA Translation: AAH14449.2
BC065195 mRNA Translation: AAH65195.1
CCDSiCCDS14054.1 [Q9NST1-1]
RefSeqiNP_079501.2, NM_025225.2 [Q9NST1-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi123247, 4 interactors
IntActiQ9NST1, 3 interactors
STRINGi9606.ENSP00000216180

Chemistry databases

SwissLipidsiSLP:000000282

PTM databases

iPTMnetiQ9NST1
PhosphoSitePlusiQ9NST1

Polymorphism and mutation databases

BioMutaiPNPLA3
DMDMi32469599

Proteomic databases

jPOSTiQ9NST1
MaxQBiQ9NST1
PaxDbiQ9NST1
PeptideAtlasiQ9NST1
PRIDEiQ9NST1
ProteomicsDBi82577
82578 [Q9NST1-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		80339
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216180; ENSP00000216180; ENSG00000100344 [Q9NST1-1]
ENST00000423180; ENSP00000397987; ENSG00000100344 [Q9NST1-2]
GeneIDi80339
KEGGihsa:80339
UCSCiuc003bei.1 human [Q9NST1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80339
DisGeNETi80339

GeneCards: human genes, protein and diseases

More...GeneCardsi		PNPLA3

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0159175
HGNCiHGNC:18590 PNPLA3
HPAiHPA058058
MIMi609567 gene
613282 phenotype
neXtProtiNX_Q9NST1
OpenTargetsiENSG00000100344
Orphaneti33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease
PharmGKBiPA38592

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3773 Eukaryota
ENOG410XSQS LUCA
GeneTreeiENSGT00940000155662
HOGENOMiHOG000007467
InParanoidiQ9NST1
KOiK13534
OMAiDALVCSC
OrthoDBi1204225at2759
PhylomeDBiQ9NST1
TreeFamiTF314272

Enzyme and pathway databases

ReactomeiR-HSA-1482883 Acyl chain remodeling of DAG and TAG

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PNPLA3

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

More...GenomeRNAii		80339

Protein Ontology

More...PROi		PR:Q9NST1

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100344 Expressed in 134 organ(s), highest expression level in pigmented layer of retina
ExpressionAtlasiQ9NST1 baseline and differential
GenevisibleiQ9NST1 HS

Family and domain databases

CDDicd07221 Pat_PNPLA3, 1 hit
InterProiView protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR039185 Pat_PNPLA3
IPR033562 PLPL
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

More...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 nameiPLPL3_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: Q9NST1
Secondary accession number(s): B0QYI0
, B2RCL3, B3KW00, Q6P1A1, Q96CB4
<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: July 3, 2003
Last sequence update: March 1, 2002
Last modified: May 8, 2019
This is version 150 of the entry and version 2 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 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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