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Search results 1 to 100 out of 144 for Pnpla1

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0.046s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: frog, western clawed
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 [].
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1752526
Stage: TS26
Assay Id: MGI:7461609
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: false
Specimen Num: 7
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1752526
Stage: TS26
Assay Id: MGI:7461609
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: false
Specimen Num: 5
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1752526
Stage: TS26
Assay Id: MGI:7461609
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: false
Specimen Num: 6
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: 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: 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: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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
GXD Expression    
Probe: MGI:7434401
Assay Type: RT-PCR
Annotation Date: 2023-02-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610527
Stage: TS27
Assay Id: MGI:7434423
Age: postnatal day 0
Image: 4
Specimen Label: CTL
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:7434401
Assay Type: RT-PCR
Annotation Date: 2023-02-14
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610527
Stage: TS27
Assay Id: MGI:7434423
Age: postnatal day 0
Image: 4
Specimen Label: CKO
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752526
Stage: TS26
Assay Id: MGI:7461609
Age: embryonic day 18.5
Specimen Label: WT
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752526
Stage: TS26
Assay Id: MGI:7461609
Age: embryonic day 18.5
Specimen Label: WT
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752526
Stage: TS26
Assay Id: MGI:7461609
Age: embryonic day 18.5
Specimen Label: WT
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752526
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Skin
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1702126
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Stomach
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3287426
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Intestine
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684626
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Liver
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876726
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Spleen
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1920926
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: BAT
Detected: false
Specimen Num: 6
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1737326
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Kidney
Detected: false
Specimen Num: 7
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610526
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Heart
Detected: false
Specimen Num: 8
GXD Expression      
Probe: MGI:7461588
Assay Type: RT-PCR
Annotation Date: 2023-04-13
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1672826
Stage: TS26
Assay Id: MGI:7461610
Age: embryonic day 18.5
Specimen Label: Lung
Detected: false
Specimen Num: 9
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3278626
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:7461577
Age: embryonic day 18.5
Specimen Label: S3C Skin
Detected: true
Specimen Num: 1
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3532426
Pattern: Not Specified
Stage: TS26
Assay Id: MGI:7461577
Age: embryonic day 18.5
Specimen Label: S3C Digestive Tract
Detected: true
Specimen Num: 2
Publication
First Author: Zou J
Year: 2023
Journal: Cell Rep
Title: Neddylation is required for perinatal cardiac development through stimulation of metabolic maturation.
Volume: 42
Issue: 1
Pages: 112018
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: 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: 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: 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: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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 Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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
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 (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association 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 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 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
GXD Expression      
Probe: MGI:2449056
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461578
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:2449056
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461578
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:2449056
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461578
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:2449056
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461578
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 8
GXD Expression        
Probe: MGI:3583464
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Not Specified
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461579
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Specimen Num: 5
GXD Expression        
Probe: MGI:3583464
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Not Specified
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461579
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Specimen Num: 6
GXD Expression        
Probe: MGI:3583464
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Not Specified
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461579
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Specimen Num: 7
GXD Expression        
Probe: MGI:3583464
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Not Specified
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461579
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Specimen Num: 8
GXD Expression      
Probe: MGI:6500822
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461580
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:6500822
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461580
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:6500822
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461580
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:6500822
Assay Type: Western blot
Annotation Date: 2023-04-13
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752826
Stage: TS26
Assay Id: MGI:7461580
Age: embryonic day 18.5
Specimen Label: Pnpla1 tm1a
Detected: true
Specimen Num: 8