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Entry version 140 (18 Sep 2019)
Sequence version 3 (12 Sep 2018)
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Protein

Neuropathy target esterase

Gene

PNPLA6

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

Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.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 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 a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei1014NucleophilePROSITE-ProRule annotation1
Active sitei1134Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi195 – 322cNMP 1Add BLAST128
Nucleotide bindingi511 – 633cNMP 2Add BLAST123
Nucleotide bindingi629 – 749cNMP 3Add BLAST121

<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-6814848 Glycerophospholipid catabolism

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8IY17

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000615

<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:
Neuropathy target esterase1 Publication (EC:3.1.1.5)
Alternative name(s):
Patatin-like phospholipase domain-containing protein 6Curated
<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:PNPLA6Imported
Synonyms:NTE
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16268 PNPLA6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603197 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IY17

<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 – 59LumenalSequence analysisAdd BLAST59
<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>Transmembranei60 – 80HelicalSequence analysisAdd BLAST21
Topological domaini81 – 1375CytoplasmicSequence analysisAdd BLAST1295

Keywords - Cellular componenti

Endoplasmic reticulum, 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

Spastic paraplegia 39, autosomal recessive (SPG39)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles.
Related information in OMIM
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_071091263V → I in SPG39. 1 PublicationCorresponds to variant dbSNP:rs587777184EnsemblClinVar.1
Natural variantiVAR_071093840G → E in SPG39. 1 PublicationCorresponds to variant dbSNP:rs587777185Ensembl.1
Natural variantiVAR_044409938R → H in SPG39. 1 PublicationCorresponds to variant dbSNP:rs121434416Ensembl.1
Natural variantiVAR_0444101060M → V in SPG39. 1 PublicationCorresponds to variant dbSNP:rs121434415Ensembl.1
Boucher-Neuhauser syndrome (BNHS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071092578G → W in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777615EnsemblClinVar.1
Natural variantiVAR_0710941045S → L in BNHS. 1 PublicationCorresponds to variant dbSNP:rs541098659Ensembl.1
Natural variantiVAR_0710951058T → I in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777181Ensembl.1
Natural variantiVAR_0710961066F → S in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777183Ensembl.1
Natural variantiVAR_0710981110V → M in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777182Ensembl.1
Natural variantiVAR_0710991122P → L in BNHS. 1 PublicationCorresponds to variant dbSNP:rs748506175Ensembl.1
Natural variantiVAR_0734121147R → C in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777854Ensembl.1
Natural variantiVAR_0734131175S → C in BNHS. 1 Publication1
Natural variantiVAR_0734161359R → W in BNHS. 1 PublicationCorresponds to variant dbSNP:rs374434303EnsemblClinVar.1
Laurence-Moon syndrome (LNMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073409726G → R in LNMS. 1 Publication1
Oliver-McFarlane syndrome (OMCS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0734101099R → Q in OMCS. 1 PublicationCorresponds to variant dbSNP:rs786201037Ensembl.1
Natural variantiVAR_0734111129G → R in OMCS. 1 PublicationCorresponds to variant dbSNP:rs773955314Ensembl.1
Natural variantiVAR_0734141176G → S in OMCS. 1 PublicationCorresponds to variant dbSNP:rs142422525Ensembl.1
Natural variantiVAR_0734151215V → A in OMCS. 1 PublicationCorresponds to variant dbSNP:rs1211079280Ensembl.1

Keywords - Diseasei

Disease mutation, Dwarfism, Hereditary spastic paraplegia, Hypogonadotropic hypogonadism, Mental retardation, Neurodegeneration, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
10908

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PNPLA6

MalaCards human disease database

More...
MalaCardsi
PNPLA6
MIMi215470 phenotype
245800 phenotype
275400 phenotype
612020 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000032444

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

More...
Orphaneti
1180 Ataxia-hypogonadism-choroidal dystrophy syndrome
139480 Autosomal recessive spastic paraplegia type 39
1173 Cerebellar ataxia-hypogonadism syndrome
2377 Laurence-Moon syndrome
3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145148268

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2189129

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PNPLA6

Domain mapping of disease mutations (DMDM)

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DMDMi
150403921

<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_00002921991 – 1375Neuropathy target esteraseAdd BLAST1375

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>Glycosylationi20N-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 residuei354PhosphoserineCombined sources1
Modified residuei361PhosphothreonineCombined sources1
Modified residuei362PhosphoserineCombined sources1
Modified residuei372PhosphoserineCombined sources1
Modified residuei420PhosphoserineCombined sources1
Modified residuei464PhosphothreonineCombined 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

Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IY17

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IY17

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IY17

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

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PaxDbi
Q8IY17

PeptideAtlas

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PeptideAtlasi
Q8IY17

PRoteomics IDEntifications database

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PRIDEi
Q8IY17

ProteomicsDB human proteome resource

More...
ProteomicsDBi
26908
71085 [Q8IY17-2]
71086 [Q8IY17-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IY17

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

More...
PhosphoSitePlusi
Q8IY17

<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 brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000032444 Expressed in 213 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IY17 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IY17 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA007522

<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)

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BioGridi
116114, 43 interactors

Protein interaction database and analysis system

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IntActi
Q8IY17, 32 interactors

Molecular INTeraction database

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MINTi
Q8IY17

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000407509

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8IY17

Database of comparative protein structure models

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ModBasei
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>Domaini981 – 1147PNPLAPROSITE-ProRule annotationAdd BLAST167

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>Motifi985 – 990GXGXXGPROSITE-ProRule annotation6
Motifi1012 – 1016GXSXGPROSITE-ProRule annotation5
Motifi1134 – 1136DGA/GPROSITE-ProRule annotation3

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NTE family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2968 Eukaryota
COG0664 LUCA
COG1752 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159130

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000016081

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IY17

KEGG Orthology (KO)

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KOi
K14676

Identification of Orthologs from Complete Genome Data

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OMAi
VNNLPGH

Database of Orthologous Groups

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OrthoDBi
725236at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IY17

TreeFam database of animal gene trees

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TreeFami
TF300519

Family and domain databases

Conserved Domains Database

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CDDi
cd00038 CAP_ED, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.10, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR001423 LysoPLipase_patatin_CS
IPR002641 PNPLA_dom
IPR014710 RmlC-like_jellyroll

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00027 cNMP_binding, 3 hits
PF01734 Patatin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00100 cNMP, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51206 SSF51206, 3 hits
SSF52151 SSF52151, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50042 CNMP_BINDING_3, 3 hits
PS51635 PNPLA, 1 hit
PS01237 UPF0028, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 <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 4 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: Q8IY17-4) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEAPLQTGMM GTSSHGLATN SSGAKVAERD GFQDVLAPGE GSAGRICGAQ
60 70 80 90 100
PVPFVPQVLG VMIGAGVAVV VTAVLILLVV RRLRVPKTPA PDGPRYRFRK
110 120 130 140 150
RDKVLFYGRK IMRKVSQSTS SLVDTSVSAT SRPRMRKKLK MLNIAKKILR
160 170 180 190 200
IQKETPTLQR KEPPPAVLEA DLTEGDLANS HLPSEVLYML KNVRVLGHFE
210 220 230 240 250
KPLFLELCRH MVFQRLGQGD YVFRPGQPDA SIYVVQDGLL ELCLPGPDGK
260 270 280 290 300
ECVVKEVVPG DSVNSLLSIL DVITGHQHPQ RTVSARAARD STVLRLPVEA
310 320 330 340 350
FSAVFTKYPE SLVRVVQIIM VRLQRVTFLA LHNYLGLTNE LFSHEIQPLR
360 370 380 390 400
LFPSPGLPTR TSPVRGSKRM VSTSATDEPR ETPGRPPDPT GAPLPGPTGD
410 420 430 440 450
PVKPTSLETP SAPLLSRCVS MPGDISGLQG GPRSDFDMAY ERGRISVSLQ
460 470 480 490 500
EEASGGSLAA PARTPTQEPR EQPAGACEYS YCEDESATGG CPFGPYQGRQ
510 520 530 540 550
TSSIFEAAKQ ELAKLMRIED PSLLNSRVLL HHAKAGTIIA RQGDQDVSLH
560 570 580 590 600
FVLWGCLHVY QRMIDKAEDV CLFVAQPGEL VGQLAVLTGE PLIFTLRAQR
610 620 630 640 650
DCTFLRISKS DFYEIMRAQP SVVLSAAHTV AARMSPFVRQ MDFAIDWTAV
660 670 680 690 700
EAGRALYRQG DRSDCTYIVL NGRLRSVIQR GSGKKELVGE YGRGDLIGVV
710 720 730 740 750
EALTRQPRAT TVHAVRDTEL AKLPEGTLGH IKRRYPQVVT RLIHLLSQKI
760 770 780 790 800
LGNLQQLQGP FPAGSGLGVP PHSELTNPAS NLATVAILPV CAEVPMVAFT
810 820 830 840 850
LELQHALQAI GPTLLLNSDI IRARLGASAL DSIQEFRLSG WLAQQEDAHR
860 870 880 890 900
IVLYQTDASL TPWTVRCLRQ ADCILIVGLG DQEPTLGQLE QMLENTAVRA
910 920 930 940 950
LKQLVLLHRE EGAGPTRTVE WLNMRSWCSG HLHLRCPRRL FSRRSPAKLH
960 970 980 990 1000
ELYEKVFSRR ADRHSDFSRL ARVLTGNTIA LVLGGGGARG CSHIGVLKAL
1010 1020 1030 1040 1050
EEAGVPVDLV GGTSIGSFIG ALYAEERSAS RTKQRAREWA KSMTSVLEPV
1060 1070 1080 1090 1100
LDLTYPVTSM FTGSAFNRSI HRVFQDKQIE DLWLPYFNVT TDITASAMRV
1110 1120 1130 1140 1150
HKDGSLWRYV RASMTLSGYL PPLCDPKDGH LLMDGGYINN LPADIARSMG
1160 1170 1180 1190 1200
AKTVIAIDVG SQDETDLSTY GDSLSGWWLL WKRLNPWADK VKVPDMAEIQ
1210 1220 1230 1240 1250
SRLAYVSCVR QLEVVKSSSY CEYLRPPIDC FKTMDFGKFD QIYDVGYQYG
1260 1270 1280 1290 1300
KAVFGGWSRG NVIEKMLTDR RSTDLNESRR ADVLAFPSSG FTDLAEIVSR
1310 1320 1330 1340 1350
IEPPTSYVSD GCADGEESDC LTEYEEDAGP DCSRDEGGSP EGASPSTASE
1360 1370
MEEEKSILRQ RRCLPQEPPG SATDA
Note: No experimental confirmation available.
Length:1,375
Mass (Da):150,954
Last modified:September 12, 2018 - v3
<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:i1C9F2797FB6D8612
GO
Isoform 2 (identifier: Q8IY17-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-57: Missing.

Show »
Length:1,327
Mass (Da):146,216
Checksum:iE823248C9B29DD84
GO
Isoform 3 (identifier: Q8IY17-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     763-763: Missing.

Note: No experimental confirmation available.
Show »
Length:1,374
Mass (Da):150,883
Checksum:i9F033580ED3B0074
GO
Isoform 5 (identifier: Q8IY17-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-57: Missing.
     521-546: Missing.
     763-763: Missing.

Show »
Length:1,300
Mass (Da):143,351
Checksum:i849012C97C5156A5
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A384DVU0A0A384DVU0_HUMAN
Neuropathy target esterase
PNPLA6
1,365Annotation score:

Annotation score:2 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>
A0A2R8Y7E1A0A2R8Y7E1_HUMAN
Neuropathy target esterase
PNPLA6
224Annotation 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>
M0QZK5M0QZK5_HUMAN
Neuropathy target esterase
PNPLA6
134Annotation 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>
M0R2C2M0R2C2_HUMAN
Neuropathy target esterase
PNPLA6
267Annotation 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>
M0R2K2M0R2K2_HUMAN
Neuropathy target esterase
PNPLA6
181Annotation 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>
M0QYF5M0QYF5_HUMAN
Neuropathy target esterase
PNPLA6
117Annotation 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>
M0R2H4M0R2H4_HUMAN
Neuropathy target esterase
PNPLA6
153Annotation 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>
M0QZD1M0QZD1_HUMAN
Neuropathy target esterase
PNPLA6
38Annotation 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>
M0QYT1M0QYT1_HUMAN
Neuropathy target esterase
PNPLA6
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>
M0QXH7M0QXH7_HUMAN
Neuropathy target esterase
PNPLA6
155Annotation 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>

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 conflicti43 – 46AGRI → TRPV in AAH38229 (PubMed:15489334).Curated4
Sequence conflicti648T → A in BAG57380 (PubMed:14702039).Curated1
Sequence conflicti714A → T in AAH38229 (PubMed:15489334).Curated1
Sequence conflicti994I → W in CAB43674 (PubMed:17974005).Curated1
Sequence conflicti1178W → V in CAB43674 (PubMed:17974005).Curated1
Sequence conflicti1296E → G in CAB43674 (PubMed:17974005).Curated1
Sequence conflicti1302E → K in BAH13718 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071091263V → I in SPG39. 1 PublicationCorresponds to variant dbSNP:rs587777184EnsemblClinVar.1
Natural variantiVAR_032949412A → P2 PublicationsCorresponds to variant dbSNP:rs17854645Ensembl.1
Natural variantiVAR_071092578G → W in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777615EnsemblClinVar.1
Natural variantiVAR_073409726G → R in LNMS. 1 Publication1
Natural variantiVAR_071093840G → E in SPG39. 1 PublicationCorresponds to variant dbSNP:rs587777185Ensembl.1
Natural variantiVAR_044409938R → H in SPG39. 1 PublicationCorresponds to variant dbSNP:rs121434416Ensembl.1
Natural variantiVAR_0329501033K → R1 PublicationCorresponds to variant dbSNP:rs17854647Ensembl.1
Natural variantiVAR_0710941045S → L in BNHS. 1 PublicationCorresponds to variant dbSNP:rs541098659Ensembl.1
Natural variantiVAR_0710951058T → I in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777181Ensembl.1
Natural variantiVAR_0444101060M → V in SPG39. 1 PublicationCorresponds to variant dbSNP:rs121434415Ensembl.1
Natural variantiVAR_0710961066F → S in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777183Ensembl.1
Natural variantiVAR_0734101099R → Q in OMCS. 1 PublicationCorresponds to variant dbSNP:rs786201037Ensembl.1
Natural variantiVAR_0710971100V → G Found in a patient with sporadic ataxia and BNHS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0710981110V → M in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777182Ensembl.1
Natural variantiVAR_0710991122P → L in BNHS. 1 PublicationCorresponds to variant dbSNP:rs748506175Ensembl.1
Natural variantiVAR_0734111129G → R in OMCS. 1 PublicationCorresponds to variant dbSNP:rs773955314Ensembl.1
Natural variantiVAR_0734121147R → C in BNHS. 1 PublicationCorresponds to variant dbSNP:rs587777854Ensembl.1
Natural variantiVAR_0734131175S → C in BNHS. 1 Publication1
Natural variantiVAR_0734141176G → S in OMCS. 1 PublicationCorresponds to variant dbSNP:rs142422525Ensembl.1
Natural variantiVAR_0734151215V → A in OMCS. 1 PublicationCorresponds to variant dbSNP:rs1211079280Ensembl.1
Natural variantiVAR_0734161359R → W in BNHS. 1 PublicationCorresponds to variant dbSNP:rs374434303EnsemblClinVar.1
Natural variantiVAR_0711001362R → G Found in a patient with Gordon-Holmes syndrome; unknown pathological significance. 1 Publication1

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_05966810 – 57Missing in isoform 2 and isoform 5. Add BLAST48
Alternative sequenceiVSP_059669521 – 546Missing in isoform 5. Add BLAST26
Alternative sequenceiVSP_059670763Missing in isoform 3 and isoform 5. 1

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
AJ004832 mRNA Translation: CAA06164.1
AK294021 mRNA Translation: BAG57380.1
AK302462 mRNA Translation: BAH13718.1
AC008878 Genomic DNA No translation available.
AC009003 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW69029.1
BC038229 mRNA Translation: AAH38229.1
BC050553 mRNA Translation: AAH50553.1
BC051768 mRNA Translation: AAH51768.1
AL050362 mRNA Translation: CAB43674.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32891.1 [Q8IY17-2]
CCDS54206.1 [Q8IY17-4]
CCDS54207.1 [Q8IY17-5]

NCBI Reference Sequences

More...
RefSeqi
NP_001159583.1, NM_001166111.1 [Q8IY17-4]
NP_001159584.1, NM_001166112.1 [Q8IY17-5]
NP_001159585.1, NM_001166113.1 [Q8IY17-2]
NP_001159586.1, NM_001166114.1
NP_006693.3, NM_006702.4 [Q8IY17-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000221249; ENSP00000221249; ENSG00000032444 [Q8IY17-2]
ENST00000414982; ENSP00000407509; ENSG00000032444 [Q8IY17-4]
ENST00000450331; ENSP00000394348; ENSG00000032444 [Q8IY17-2]
ENST00000545201; ENSP00000443323; ENSG00000032444 [Q8IY17-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10908

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10908

UCSC genome browser

More...
UCSCi
uc002mgq.3 human [Q8IY17-4]

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
AJ004832 mRNA Translation: CAA06164.1
AK294021 mRNA Translation: BAG57380.1
AK302462 mRNA Translation: BAH13718.1
AC008878 Genomic DNA No translation available.
AC009003 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW69029.1
BC038229 mRNA Translation: AAH38229.1
BC050553 mRNA Translation: AAH50553.1
BC051768 mRNA Translation: AAH51768.1
AL050362 mRNA Translation: CAB43674.1
CCDSiCCDS32891.1 [Q8IY17-2]
CCDS54206.1 [Q8IY17-4]
CCDS54207.1 [Q8IY17-5]
RefSeqiNP_001159583.1, NM_001166111.1 [Q8IY17-4]
NP_001159584.1, NM_001166112.1 [Q8IY17-5]
NP_001159585.1, NM_001166113.1 [Q8IY17-2]
NP_001159586.1, NM_001166114.1
NP_006693.3, NM_006702.4 [Q8IY17-2]

3D structure databases

SMRiQ8IY17
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116114, 43 interactors
IntActiQ8IY17, 32 interactors
MINTiQ8IY17
STRINGi9606.ENSP00000407509

Chemistry databases

ChEMBLiCHEMBL2189129
SwissLipidsiSLP:000000615

PTM databases

iPTMnetiQ8IY17
PhosphoSitePlusiQ8IY17

Polymorphism and mutation databases

BioMutaiPNPLA6
DMDMi150403921

Proteomic databases

EPDiQ8IY17
jPOSTiQ8IY17
MassIVEiQ8IY17
PaxDbiQ8IY17
PeptideAtlasiQ8IY17
PRIDEiQ8IY17
ProteomicsDBi26908
71085 [Q8IY17-2]
71086 [Q8IY17-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221249; ENSP00000221249; ENSG00000032444 [Q8IY17-2]
ENST00000414982; ENSP00000407509; ENSG00000032444 [Q8IY17-4]
ENST00000450331; ENSP00000394348; ENSG00000032444 [Q8IY17-2]
ENST00000545201; ENSP00000443323; ENSG00000032444 [Q8IY17-5]
GeneIDi10908
KEGGihsa:10908
UCSCiuc002mgq.3 human [Q8IY17-4]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10908
DisGeNETi10908

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PNPLA6
GeneReviewsiPNPLA6
HGNCiHGNC:16268 PNPLA6
HPAiHPA007522
MalaCardsiPNPLA6
MIMi215470 phenotype
245800 phenotype
275400 phenotype
603197 gene
612020 phenotype
neXtProtiNX_Q8IY17
OpenTargetsiENSG00000032444
Orphaneti1180 Ataxia-hypogonadism-choroidal dystrophy syndrome
139480 Autosomal recessive spastic paraplegia type 39
1173 Cerebellar ataxia-hypogonadism syndrome
2377 Laurence-Moon syndrome
3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
PharmGKBiPA145148268

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2968 Eukaryota
COG0664 LUCA
COG1752 LUCA
GeneTreeiENSGT00940000159130
HOGENOMiHOG000016081
InParanoidiQ8IY17
KOiK14676
OMAiVNNLPGH
OrthoDBi725236at2759
PhylomeDBiQ8IY17
TreeFamiTF300519

Enzyme and pathway databases

ReactomeiR-HSA-6814848 Glycerophospholipid catabolism
SIGNORiQ8IY17

Miscellaneous databases

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

More...
ChiTaRSi
PNPLA6 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Neuropathy_target_esterase

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

More...
GenomeRNAii
10908

Pharos

More...
Pharosi
Q8IY17

Protein Ontology

More...
PROi
PR:Q8IY17

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000032444 Expressed in 213 organ(s), highest expression level in blood
ExpressionAtlasiQ8IY17 baseline and differential
GenevisibleiQ8IY17 HS

Family and domain databases

CDDicd00038 CAP_ED, 3 hits
Gene3Di2.60.120.10, 3 hits
InterProiView protein in InterPro
IPR016035 Acyl_Trfase/lysoPLipase
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR001423 LysoPLipase_patatin_CS
IPR002641 PNPLA_dom
IPR014710 RmlC-like_jellyroll
PfamiView protein in Pfam
PF00027 cNMP_binding, 3 hits
PF01734 Patatin, 1 hit
SMARTiView protein in SMART
SM00100 cNMP, 3 hits
SUPFAMiSSF51206 SSF51206, 3 hits
SSF52151 SSF52151, 1 hit
PROSITEiView protein in PROSITE
PS50042 CNMP_BINDING_3, 3 hits
PS51635 PNPLA, 1 hit
PS01237 UPF0028, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiPLPL6_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: Q8IY17
Secondary accession number(s): A6NGQ0
, B4DFB9, B7Z7T2, F5H5K9, J3KQS3, O60859, Q86W58, Q9UG58
<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: September 12, 2018
Last modified: September 18, 2019
This is version 140 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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