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Search results 1 to 85 out of 85 for Pnpla1

0.025s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Danio rerio
Gene
Type: gene
Organism: Rattus norvegicus
Protein Domain
Type: Family
Description: Members of this family share a patatin domain, initially discovered in potato tubers, and are known as patatin-like phospholipase domain containing proteins (PNPLA). They serve critical roles in diverse aspects of lipid metabolism and signaling. Some PNPLA1 proteins do not have the lipase consensus sequence Gly-X-Ser-X-Gly which is essential for hydrolase activity. This entry includes PNPLA1 from Homo sapiens and Gallus gallus. It is expressed in various human tissues in low mRNA levels [, ].In humans PNPLA1 has a role in the formation of the epidermal lipid barrier; mutations in this gene are associated with the skin disorder known as ichthyosis []. PNPLA1 acts as an 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 [, ]. It catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramid [].
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Grond S
Year: 2017
Journal: J Invest Dermatol
Title: PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
Volume: 137
Issue: 2
Pages: 394-402
Publication
First Author: Grall A
Year: 2012
Journal: Nat Genet
Title: PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Volume: 44
Issue: 2
Pages: 140-7
Publication  
First Author: Ohno Y
Year: 2017
Journal: Nat Commun
Title: PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.
Volume: 8
Pages: 14610
Publication  
First Author: Hirabayashi T
Year: 2017
Journal: Nat Commun
Title: PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.
Volume: 8
Pages: 14609
Publication
First Author: Pichery M
Year: 2017
Journal: Hum Mol Genet
Title: PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
Volume: 26
Issue: 10
Pages: 1787-1800
Publication  
First Author: Kienesberger PC
Year: 2009
Journal: J Lipid Res
Title: Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions.
Volume: 50 Suppl
Pages: S63-8
Publication
First Author: Wilson PA
Year: 2006
Journal: J Lipid Res
Title: Characterization of the human patatin-like phospholipase family.
Volume: 47
Issue: 9
Pages: 1940-9
Publication
First Author: Chang PA
Year: 2016
Journal: Gene
Title: Identification mouse patatin-like phospholipase domain containing protein 1 as a skin-specific and membrane-associated protein.
Volume: 591
Issue: 2
Pages: 344-50
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression      
Probe: MGI:6423352
Assay Type: RT-PCR
Annotation Date: 2020-05-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:6423365
Age: embryonic day 18.5
Specimen Label: WT
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:6423352
Assay Type: RT-PCR
Annotation Date: 2020-05-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:6423365
Age: embryonic day 18.5
Specimen Label: KO
Detected: true
Specimen Num: 2
Publication
First Author: Kato A
Year: 2022
Journal: Biochim Biophys Acta Mol Cell Biol Lipids
Title: Acsl1 is essential for skin barrier function through the activation of linoleic acid and biosynthesis of ω-O-acylceramide in mice.
Volume: 1867
Issue: 2
Pages: 159085
Publication
First Author: Miyamoto M
Year: 2020
Journal: J Invest Dermatol
Title: Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production.
Volume: 140
Issue: 2
Pages: 319-326.e4
Publication
First Author: Oberbeck N
Year: 2019
Journal: Nature
Title: The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.
Volume: 574
Issue: 7777
Pages: 249-253
Publication
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: Data Curation Using Mouse Genome Assembly
Publication      
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
Publication      
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Allele
Name: patatin-like phospholipase domain containing 1; targeted mutation 1a, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Conditional ready, Null/knockout, Reporter
Genotype
Symbol: Pnpla1/Pnpla1
Background: B6NTac;B6N-A Pnpla1/Ics
Zygosity: hm
Has Mutant Allele: true
DO Term
Publication
First Author: Xie M
Year: 2015
Journal: PLoS Genet
Title: The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans.
Volume: 11
Issue: 6
Pages: e1005284
Publication
First Author: Narbonne P
Year: 2009
Journal: Nature
Title: Caenorhabditis elegans dauers need LKB1/AMPK to ration lipid reserves and ensure long-term survival.
Volume: 457
Issue: 7226
Pages: 210-4
Publication
First Author: Zhang SO
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Genetic and dietary regulation of lipid droplet expansion in Caenorhabditis elegans.
Volume: 107
Issue: 10
Pages: 4640-5
Publication
First Author: Noble T
Year: 2013
Journal: Cell Metab
Title: An integrated serotonin and octopamine neuronal circuit directs the release of an endocrine signal to control C. elegans body fat.
Volume: 18
Issue: 5
Pages: 672-84
Publication
First Author: Lee JH
Year: 2014
Journal: Mol Cell Biol
Title: Lipid droplet protein LID-1 mediates ATGL-1-dependent lipolysis during fasting in Caenorhabditis elegans.
Volume: 34
Issue: 22
Pages: 4165-76
Publication
First Author: Xie M
Year: 2015
Journal: PLoS One
Title: AMP-Activated Kinase Regulates Lipid Droplet Localization and Stability of Adipose Triglyceride Lipase in C. elegans Dauer Larvae.
Volume: 10
Issue: 6
Pages: e0130480
Protein Domain
Type: Family
Description: This entry includes patatin-like phospholipase domain-containing proteins 1-5 (PNPLA1-5) from humans and Atgl-1 from Caenorhabditis elegans. They are a group of lipid hydrolases. Atgl-1 may play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion [, , , , , ]. In humans PNPLA1 has a role in the formation of the epidermal lipid barrier; mutations in this gene are associated with the skin disorder known as ichthyosis []. PNPLA1 acts as an 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 [, ]. It catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramid [].Human PNPLA2 catalyses the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets []. PNPLA3 has both triacylglycerol lipase and acylglycerol O-acyltransferase activities [].
Publication
First Author: Kien B
Year: 2018
Journal: J Lipid Res
Title: ABHD5 stimulates PNPLA1-mediated ω-O-acylceramide biosynthesis essential for a functional skin permeability barrier.
Volume: 59
Issue: 12
Pages: 2360-2367
Publication
First Author: Zimmermann R
Year: 2004
Journal: Science
Title: Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase.
Volume: 306
Issue: 5700
Pages: 1383-6
Protein
Organism: Mus musculus
Length: 599  
Fragment?: false
Protein
Organism: Mus musculus
Length: 432  
Fragment?: false
Protein
Organism: Mus musculus
Length: 305  
Fragment?: true
Protein
Organism: Mus musculus
Length: 158  
Fragment?: true
Protein
Organism: Mus musculus
Length: 599  
Fragment?: false
Protein
Organism: Mus musculus
Length: 70  
Fragment?: false
Publication
First Author: Jenkins CM
Year: 2004
Journal: J Biol Chem
Title: Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.
Volume: 279
Issue: 47
Pages: 48968-75
Protein
Organism: Mus musculus
Length: 486  
Fragment?: false
Protein
Organism: Mus musculus
Length: 413  
Fragment?: false
Protein
Organism: Mus musculus
Length: 384  
Fragment?: false