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UniProtKB - Q8N8W4 (PLPL1_HUMAN)

Entry version 133 (07 Apr 2021)
Sequence version 3 (18 May 2010)
Previous versions | rss
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Protein

Omega-hydroxyceramide transacylase

Gene

PNPLA1

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

Omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier formation (PubMed:27751867, PubMed:28248318). Catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramide (PubMed:27751867, PubMed:28248318). Omega-O-acylceramides, are required for the biogenesis of lipid lamellae in the stratum corneum and the formation of the cornified lipid envelope which are essential for the epidermis barrier function (PubMed:22246504, PubMed:27751867, PubMed:28248318). These lipids also play a role in keratinocyte differentiation (By similarity). May also act on omega-hydroxylated ultra-long chain fatty acids (omega-OH ULCFA) and acylglucosylceramides (GlcEOS) (By similarity).By similarity3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei53NucleophilePROSITE-ProRule annotation1
Active sitei172Proton 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

Complete GO annotation on QuickGO ...

GO - Biological processi

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 functionTransferase
Biological processLipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000180316-MONOMER

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8N8W4

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001823

<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%5Fand%5Ftaxonomy%5Fsection">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:
Omega-hydroxyceramide transacylase2 Publications (EC:2.3.1.2962 Publications)
Alternative name(s):
Patatin-like phospholipase domain-containing protein 1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PNPLA1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21246, PNPLA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612121, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N8W4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000180316.11

<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

Keywords - Cellular componenti

Cytoplasm

<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

Ichthyosis, congenital, autosomal recessive 10 (ARCI10)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
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_08401234A → T in ARCI10; decreased omega-hydroxyceramide transacylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1182312612Ensembl.1
Natural variantiVAR_06956659A → V in ARCI10; decreased omega-hydroxyceramide transacylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1561853847Ensembl.1
Natural variantiVAR_084013131 – 532Missing in ARCI10; loss of omega-hydroxyceramide transacylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1561864453Add BLAST402

Keywords - Diseasei

Disease variant, Ichthyosis

Organism-specific databases

DisGeNET

More...DisGeNETi		285848

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

More...GeneReviewsi		PNPLA1

MalaCards human disease database

More...MalaCardsi		PNPLA1
MIMi615024, phenotype

Open Targets

More...OpenTargetsi		ENSG00000180316

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

More...Orphaneti		79394, Congenital non-bullous ichthyosiform erythroderma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134887192

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8N8W4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PNPLA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452995

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002920191 – 532Omega-hydroxyceramide transacylaseAdd BLAST532

Proteomic databases

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

More...PaxDbi		Q8N8W4

PRoteomics IDEntifications database

More...PRIDEi		Q8N8W4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72466 [Q8N8W4-1]
72467 [Q8N8W4-2]
72468 [Q8N8W4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N8W4

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

More...PhosphoSitePlusi		Q8N8W4

<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 the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers.2 Publications

<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

Up-regulated upon induced differentiation of keratinocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000180316, Expressed in zone of skin and 69 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N8W4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N8W4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000180316, Tissue enhanced (blood, skin)

<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		130231, 11 interactors

Protein interaction database and analysis system

More...IntActi		Q8N8W4, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000378072

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8N8W4, protein

<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%5Fand%5Fdomains%5Fsection">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>Domaini16 – 185PNPLAPROSITE-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>Motifi51 – 55GXSXGPROSITE-ProRule annotation5
Motifi172 – 174DGA/GPROSITE-ProRule annotation3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi326 – 451Pro-richAdd BLAST126

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3773, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160828

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8N8W4

Database of Orthologous Groups

More...OrthoDBi		1204225at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8N8W4

TreeFam database of animal gene trees

More...TreeFami		TF314272

Family and domain databases

Conserved Domains Database

More...CDDi		cd07219, Pat_PNPLA1, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016035, Acyl_Trfase/lysoPLipase
IPR039180, Pat_PNPLA1
IPR033562, PLPL
IPR002641, PNPLA_dom

The PANTHER Classification System

More...PANTHERi		PTHR12406, PTHR12406, 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%5Flength">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N8W4-1) [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
MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA 
        60         70         80         90        100
GTSAGAVIAA LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM 
       110        120        130        140        150
RQFLYRVLPE DSYKVTTGKL HVSLTRLTDG ENVVVSEFTS KEELIEALYC 
       160        170        180        190        200
SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP CAFWTDAITI STFSGQQDIC 
       210        220        230        240        250
PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL HDYYYRGYED 
       260        270        280        290        300
AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR 
       310        320        330        340        350
QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL 
       360        370        380        390        400
EQPPAQPLAS STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS 
       410        420        430        440        450
PQQQVQPSGS PARSLHSQAP TSPRPSLGPS TVGAPQTLPR SSLSAFPAQP 
       460        470        480        490        500
PVEELGQEQP QAVALLVSSK PKSAVPLVHV KETVSKPYVT ESPAEDSNWV 
       510        520        530 
NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ
Length:532
Mass (Da):57,875
Last modified:May 18, 2010 - 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:i175852A0FFABE035
GO
Isoform 2 (identifier: Q8N8W4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: Inactive.Curated
Show »
Length:437
Mass (Da):47,830
Checksum:i47DE95860E41E305
GO
Isoform 3 (identifier: Q8N8W4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.
     168-168: V → VWAFLTLPPQ

Note: Inactive.Curated
Show »
Length:446
Mass (Da):48,884
Checksum:i6543ABDB0D7D0853
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GW56A0A1B0GW56_HUMAN
Omega-hydroxyceramide transacylase
PNPLA1
481Annotation 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>
A0A0C4DG24A0A0C4DG24_HUMAN
Omega-hydroxyceramide transacylase
PNPLA1
533Annotation 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 conflicti147A → AA in CAJ58679 (PubMed:16799181).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08401234A → T in ARCI10; decreased omega-hydroxyceramide transacylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1182312612Ensembl.1
Natural variantiVAR_06956659A → V in ARCI10; decreased omega-hydroxyceramide transacylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1561853847Ensembl.1
Natural variantiVAR_084013131 – 532Missing in ARCI10; loss of omega-hydroxyceramide transacylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1561864453Add BLAST402
Natural variantiVAR_032929423P → H2 PublicationsCorresponds to variant dbSNP:rs12199580Ensembl.1
Natural variantiVAR_032930490T → M1 PublicationCorresponds to variant dbSNP:rs12197079Ensembl.1
Natural variantiVAR_032931522S → P1 PublicationCorresponds to variant dbSNP:rs4713956Ensembl.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_0263711 – 95Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST95
Alternative sequenceiVSP_026372168V → VWAFLTLPPQ in isoform 3. 1 Publication1

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
AM182887 mRNA Translation: CAJ58679.1
AK096074 mRNA Translation: BAC04697.1
Z84484 Genomic DNA No translation available.
BC103905 mRNA Translation: AAI03906.1
BC103906 mRNA Translation: AAI03907.1
BC103907 mRNA Translation: AAI03908.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34438.1 [Q8N8W4-2]
CCDS47416.1 [Q8N8W4-3]
CCDS54997.1 [Q8N8W4-1]

NCBI Reference Sequences

More...RefSeqi		NP_001139188.1, NM_001145716.2 [Q8N8W4-3]
NP_001139189.2, NM_001145717.1 [Q8N8W4-1]
NP_775947.2, NM_173676.2 [Q8N8W4-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000312917; ENSP00000321116; ENSG00000180316 [Q8N8W4-3]
ENST00000388715; ENSP00000373367; ENSG00000180316 [Q8N8W4-2]
ENST00000394571; ENSP00000378072; ENSG00000180316 [Q8N8W4-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		285848

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:285848

UCSC genome browser

More...UCSCi		uc003olw.2, human [Q8N8W4-1]

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
AM182887 mRNA Translation: CAJ58679.1
AK096074 mRNA Translation: BAC04697.1
Z84484 Genomic DNA No translation available.
BC103905 mRNA Translation: AAI03906.1
BC103906 mRNA Translation: AAI03907.1
BC103907 mRNA Translation: AAI03908.1
CCDSiCCDS34438.1 [Q8N8W4-2]
CCDS47416.1 [Q8N8W4-3]
CCDS54997.1 [Q8N8W4-1]
RefSeqiNP_001139188.1, NM_001145716.2 [Q8N8W4-3]
NP_001139189.2, NM_001145717.1 [Q8N8W4-1]
NP_775947.2, NM_173676.2 [Q8N8W4-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi130231, 11 interactors
IntActiQ8N8W4, 8 interactors
STRINGi9606.ENSP00000378072

Chemistry databases

SwissLipidsiSLP:000001823

PTM databases

iPTMnetiQ8N8W4
PhosphoSitePlusiQ8N8W4

Genetic variation databases

BioMutaiPNPLA1
DMDMi296452995

Proteomic databases

PaxDbiQ8N8W4
PRIDEiQ8N8W4
ProteomicsDBi72466 [Q8N8W4-1]
72467 [Q8N8W4-2]
72468 [Q8N8W4-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29651, 125 antibodies

Genome annotation databases

EnsembliENST00000312917; ENSP00000321116; ENSG00000180316 [Q8N8W4-3]
ENST00000388715; ENSP00000373367; ENSG00000180316 [Q8N8W4-2]
ENST00000394571; ENSP00000378072; ENSG00000180316 [Q8N8W4-1]
GeneIDi285848
KEGGihsa:285848
UCSCiuc003olw.2, human [Q8N8W4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		285848
DisGeNETi285848

GeneCards: human genes, protein and diseases

More...GeneCardsi		PNPLA1
GeneReviewsiPNPLA1
HGNCiHGNC:21246, PNPLA1
HPAiENSG00000180316, Tissue enhanced (blood, skin)
MalaCardsiPNPLA1
MIMi612121, gene
615024, phenotype
neXtProtiNX_Q8N8W4
OpenTargetsiENSG00000180316
Orphaneti79394, Congenital non-bullous ichthyosiform erythroderma
PharmGKBiPA134887192
VEuPathDBiHostDB:ENSG00000180316.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3773, Eukaryota
GeneTreeiENSGT00940000160828
InParanoidiQ8N8W4
OrthoDBi1204225at2759
PhylomeDBiQ8N8W4
TreeFamiTF314272

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000180316-MONOMER
PathwayCommonsiQ8N8W4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		285848, 5 hits in 984 CRISPR screens

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

More...ChiTaRSi		PNPLA1, human

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

More...GenomeRNAii		285848
PharosiQ8N8W4, Tbio

Protein Ontology

More...PROi		PR:Q8N8W4
RNActiQ8N8W4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000180316, Expressed in zone of skin and 69 other tissues
ExpressionAtlasiQ8N8W4, baseline and differential
GenevisibleiQ8N8W4, HS

Family and domain databases

CDDicd07219, Pat_PNPLA1, 1 hit
InterProiView protein in InterPro
IPR016035, Acyl_Trfase/lysoPLipase
IPR039180, Pat_PNPLA1
IPR033562, PLPL
IPR002641, PNPLA_dom
PANTHERiPTHR12406, PTHR12406, 1 hit
SUPFAMiSSF52151, SSF52151, 1 hit
PROSITEiView protein in PROSITE
PS51635, PNPLA, 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 nameiPLPL1_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: Q8N8W4
Secondary accession number(s): A3RMU3
, J3JS20, Q2A6N1, Q3SY95, Q3SY96, Q5R3L2
<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%5Fand%5Fisoforms">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: May 18, 2010
Last modified: April 7, 2021
This is version 133 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

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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