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Entry version 146 (08 May 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Calcium-independent phospholipase A2-gamma

Gene

PNPLA8

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

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.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 ‘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 E-6-bromomethylene-3-1-naphthalenyl-2H-tetrahydropyran-2-one (BEL).

<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 8.0.

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 sitei483NucleophilePROSITE-ProRule annotation1
Active sitei627Proton 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-1482788 Acyl chain remodelling of PC
R-HSA-1482839 Acyl chain remodelling of PE

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000564
SLP:000000607

<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:
Calcium-independent phospholipase A2-gamma (EC:3.1.1.5)
Alternative name(s):
Intracellular membrane-associated calcium-independent phospholipase A2 gamma
Short name:
iPLA2-gamma
PNPLA-gamma
Patatin-like phospholipase domain-containing protein 8
iPLA2-2
<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:PNPLA8
Synonyms:IPLA22, IPLA2G
ORF Names:BM-043
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28900 PNPLA8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612123 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NP80

<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 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>Transmembranei475 – 495HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, 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

Mitochondrial myopathy with lactic acidosis (MMLA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis, and elevated serum pyruvate concentration. Some patients manifest growth failure and moderate neural deafness.
See also OMIM:251950

Organism-specific databases

DisGeNET

More...
DisGeNETi
50640

MalaCards human disease database

More...
MalaCardsi
PNPLA8
MIMi251950 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000135241

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145148236

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2189126

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PNPLA8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74734299

<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_00003032141 – 782Calcium-independent phospholipase A2-gammaAdd BLAST782

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>Glycosylationi4N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi361N-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 residuei736N6-succinyllysineBy similarity1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NP80

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NP80

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NP80

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

More...
PaxDbi
Q9NP80

PeptideAtlas

More...
PeptideAtlasi
Q9NP80

PRoteomics IDEntifications database

More...
PRIDEi
Q9NP80

ProteomicsDB human proteome resource

More...
ProteomicsDBi
81923
81924 [Q9NP80-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NP80

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

More...
PhosphoSitePlusi
Q9NP80

<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

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.4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000135241 Expressed in 206 organ(s), highest expression level in endothelial cell

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NP80 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NP80 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA020083

<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
119111, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NP80, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000410804

<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>Domaini445 – 640PNPLAPROSITE-ProRule annotationAdd BLAST196

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>Motifi449 – 454GXGXXGPROSITE-ProRule annotation6
Motifi481 – 485GXSXGPROSITE-ProRule annotation5
Motifi627 – 629DGA/GPROSITE-ProRule annotation3

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4231 Eukaryota
ENOG410XQXJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154738

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000115579

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NP80

KEGG Orthology (KO)

More...
KOi
K16815

Identification of Orthologs from Complete Genome Data

More...
OMAi
GYFQEFV

Database of Orthologous Groups

More...
OrthoDBi
1209603at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NP80

TreeFam database of animal gene trees

More...
TreeFami
TF319230

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR002641 PNPLA_dom

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 (3+)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 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NP80-1) [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
MSINLTVDIY IYLLSNARSV CGKQRSKQLY FLFSPKHYWR ISHISLQRGF
60 70 80 90 100
HTNIIRCKWT KSEAHSCSKH CYSPSNHGLH IGILKLSTSA PKGLTKVNIC
110 120 130 140 150
MSRIKSTLNS VSKAVFGNQN EMISRLAQFK PSSQILRKVS DSGWLKQKNI
160 170 180 190 200
KQAIKSLKKY SDKSAEKSPF PEEKSHIIDK EEDIGKRSLF HYTSSITTKF
210 220 230 240 250
GDSFYFLSNH INSYFKRKEK MSQQKENEHF RDKSELEDKK VEEGKLRSPD
260 270 280 290 300
PGILAYKPGS ESVHTVDKPT SPSAIPDVLQ VSTKQSIANF LSRPTEGVQA
310 320 330 340 350
LVGGYIGGLV PKLKYDSKSQ SEEQEEPAKT DQAVSKDRNA EEKKRLSLQR
360 370 380 390 400
EKIIARVSID NRTRALVQAL RRTTDPKLCI TRVEELTFHL LEFPEGKGVA
410 420 430 440 450
VKERIIPYLL RLRQIKDETL QAAVREILAL IGYVDPVKGR GIRILSIDGG
460 470 480 490 500
GTRGVVALQT LRKLVELTQK PVHQLFDYIC GVSTGAILAF MLGLFHMPLD
510 520 530 540 550
ECEELYRKLG SDVFSQNVIV GTVKMSWSHA FYDSQTWENI LKDRMGSALM
560 570 580 590 600
IETARNPTCP KVAAVSTIVN RGITPKAFVF RNYGHFPGIN SHYLGGCQYK
610 620 630 640 650
MWQAIRASSA APGYFAEYAL GNDLHQDGGL LLNNPSALAM HECKCLWPDV
660 670 680 690 700
PLECIVSLGT GRYESDVRNT VTYTSLKTKL SNVINSATDT EEVHIMLDGL
710 720 730 740 750
LPPDTYFRFN PVMCENIPLD ESRNEKLDQL QLEGLKYIER NEQKMKKVAK
760 770 780
ILSQEKTTLQ KINDWIKLKT DMYEGLPFFS KL
Length:782
Mass (Da):88,477
Last modified:October 1, 2000 - 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:iC66AD18A53AF649A
GO
Isoform 2 (identifier: Q9NP80-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     565-626: Missing.

Note: No experimental confirmation available.
Show »
Length:720
Mass (Da):81,602
Checksum:iC5FEF9D74A3E9954
GO
Isoform 3 (identifier: Q9NP80-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Note: No experimental confirmation available.
Show »
Length:682
Mass (Da):77,031
Checksum:iB42D353E75FE540D
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DG51A0A0C4DG51_HUMAN
Calcium-independent phospholipase A...
PNPLA8
639Annotation 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>
C9JAX4C9JAX4_HUMAN
Calcium-independent phospholipase A...
PNPLA8
192Annotation 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>
C9J9W9C9J9W9_HUMAN
Calcium-independent phospholipase A...
PNPLA8
55Annotation 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 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 AAF67630 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA92090 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAL24384 differs from that shown. Reason: Erroneous gene model prediction.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 conflicti570 – 575NRGITP → IGGITH in AAF67630 (Ref. 9) Curated6
Sequence conflicti570 – 571NR → GI in BAA92090 (PubMed:14702039).Curated2
Sequence conflicti622N → S in BAA92090 (PubMed:14702039).Curated1
Sequence conflicti623D → G in BX647865 (PubMed:17974005).Curated1

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_0455941 – 100Missing in isoform 3. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_028005565 – 626Missing in isoform 2. 1 PublicationAdd BLAST62

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB041261 mRNA Translation: BAA94997.1
AF263613 mRNA Translation: AAF75269.1
AF263947 mRNA Translation: AAF81246.1
AL834147 mRNA Translation: CAD38859.1
BX647865 mRNA No translation available.
AC005058 Genomic DNA Translation: AAD08847.1
CH236947 Genomic DNA Translation: EAL24384.1 Sequence problems.
CH236947 Genomic DNA Translation: EAL24385.1
CH471070 Genomic DNA Translation: EAW83433.1
BC032999 mRNA Translation: AAH32999.1
AK002115 mRNA Translation: BAA92090.1 Different initiation.
AK024335 mRNA Translation: BAB14890.1
AF217519 mRNA Translation: AAF67630.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34733.1 [Q9NP80-1]
CCDS59075.1 [Q9NP80-3]
CCDS59508.1 [Q9NP80-2]

Protein sequence database of the Protein Information Resource

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PIRi
JC7284

NCBI Reference Sequences

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RefSeqi
NP_001242936.1, NM_001256007.2 [Q9NP80-1]
NP_001242937.1, NM_001256008.2 [Q9NP80-1]
NP_001242938.1, NM_001256009.2 [Q9NP80-2]
NP_001242939.1, NM_001256010.2 [Q9NP80-3]
NP_001242940.1, NM_001256011.2 [Q9NP80-3]
NP_056538.1, NM_015723.4 [Q9NP80-1]
XP_005250453.1, XM_005250396.4 [Q9NP80-2]
XP_011514576.1, XM_011516274.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000257694; ENSP00000257694; ENSG00000135241 [Q9NP80-1]
ENST00000422087; ENSP00000410804; ENSG00000135241 [Q9NP80-1]
ENST00000426128; ENSP00000394988; ENSG00000135241 [Q9NP80-2]
ENST00000436062; ENSP00000406779; ENSG00000135241 [Q9NP80-1]
ENST00000453144; ENSP00000387789; ENSG00000135241 [Q9NP80-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
50640

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:50640

UCSC genome browser

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UCSCi
uc003vff.3 human [Q9NP80-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB041261 mRNA Translation: BAA94997.1
AF263613 mRNA Translation: AAF75269.1
AF263947 mRNA Translation: AAF81246.1
AL834147 mRNA Translation: CAD38859.1
BX647865 mRNA No translation available.
AC005058 Genomic DNA Translation: AAD08847.1
CH236947 Genomic DNA Translation: EAL24384.1 Sequence problems.
CH236947 Genomic DNA Translation: EAL24385.1
CH471070 Genomic DNA Translation: EAW83433.1
BC032999 mRNA Translation: AAH32999.1
AK002115 mRNA Translation: BAA92090.1 Different initiation.
AK024335 mRNA Translation: BAB14890.1
AF217519 mRNA Translation: AAF67630.1 Different initiation.
CCDSiCCDS34733.1 [Q9NP80-1]
CCDS59075.1 [Q9NP80-3]
CCDS59508.1 [Q9NP80-2]
PIRiJC7284
RefSeqiNP_001242936.1, NM_001256007.2 [Q9NP80-1]
NP_001242937.1, NM_001256008.2 [Q9NP80-1]
NP_001242938.1, NM_001256009.2 [Q9NP80-2]
NP_001242939.1, NM_001256010.2 [Q9NP80-3]
NP_001242940.1, NM_001256011.2 [Q9NP80-3]
NP_056538.1, NM_015723.4 [Q9NP80-1]
XP_005250453.1, XM_005250396.4 [Q9NP80-2]
XP_011514576.1, XM_011516274.2

3D structure databases

Database of comparative protein structure models

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ModBasei
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi119111, 9 interactors
IntActiQ9NP80, 11 interactors
STRINGi9606.ENSP00000410804

Chemistry databases

ChEMBLiCHEMBL2189126
SwissLipidsiSLP:000000564
SLP:000000607

PTM databases

iPTMnetiQ9NP80
PhosphoSitePlusiQ9NP80

Polymorphism and mutation databases

BioMutaiPNPLA8
DMDMi74734299

Proteomic databases

EPDiQ9NP80
jPOSTiQ9NP80
MaxQBiQ9NP80
PaxDbiQ9NP80
PeptideAtlasiQ9NP80
PRIDEiQ9NP80
ProteomicsDBi81923
81924 [Q9NP80-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
50640
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257694; ENSP00000257694; ENSG00000135241 [Q9NP80-1]
ENST00000422087; ENSP00000410804; ENSG00000135241 [Q9NP80-1]
ENST00000426128; ENSP00000394988; ENSG00000135241 [Q9NP80-2]
ENST00000436062; ENSP00000406779; ENSG00000135241 [Q9NP80-1]
ENST00000453144; ENSP00000387789; ENSG00000135241 [Q9NP80-3]
GeneIDi50640
KEGGihsa:50640
UCSCiuc003vff.3 human [Q9NP80-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
50640
DisGeNETi50640

GeneCards: human genes, protein and diseases

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GeneCardsi
PNPLA8
HGNCiHGNC:28900 PNPLA8
HPAiHPA020083
MalaCardsiPNPLA8
MIMi251950 phenotype
612123 gene
neXtProtiNX_Q9NP80
OpenTargetsiENSG00000135241
PharmGKBiPA145148236

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4231 Eukaryota
ENOG410XQXJ LUCA
GeneTreeiENSGT00940000154738
HOGENOMiHOG000115579
InParanoidiQ9NP80
KOiK16815
OMAiGYFQEFV
OrthoDBi1209603at2759
PhylomeDBiQ9NP80
TreeFamiTF319230

Enzyme and pathway databases

ReactomeiR-HSA-1482788 Acyl chain remodelling of PC
R-HSA-1482839 Acyl chain remodelling of PE

Miscellaneous databases

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

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ChiTaRSi
PNPLA8 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PNPLA8

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

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GenomeRNAii
50640

Protein Ontology

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PROi
PR:Q9NP80

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135241 Expressed in 206 organ(s), highest expression level in endothelial cell
ExpressionAtlasiQ9NP80 baseline and differential
GenevisibleiQ9NP80 HS

Family and domain databases

InterProiView protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR002641 PNPLA_dom
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
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<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 nameiPLPL8_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: Q9NP80
Secondary accession number(s): A4D0S1
, C9JZI4, O95035, Q8N3I3, Q9H7T5, Q9NR17, Q9NUN2, Q9NZ79
<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: September 11, 2007
Last sequence update: October 1, 2000
Last modified: May 8, 2019
This is version 146 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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