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    Pnpla1 patatin-like phospholipase domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 433091, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Pnpla1provided by MGI
    Official Full Name
    patatin-like phospholipase domain containing 1provided by MGI
    Primary source
    MGI:MGI:3617850
    See related
    Ensembl:ENSMUSG00000043286 AllianceGenome:MGI:3617850
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables omega-hydroxyceramide transacylase activity. A structural constituent of skin epidermis. Involved in establishment of skin barrier; keratinocyte differentiation; and omega-hydroxyceramide biosynthetic process. Predicted to be active in cytoplasm; lipid droplet; and membrane. Is expressed in gut; heart; liver; skin; and spleen. Used to study autosomal recessive congenital ichthyosis 10. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 10. Orthologous to human PNPLA1 (patatin like phospholipase domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in stomach adult (RPKM 1.7), limb E14.5 (RPKM 0.6) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pnpla1 in Genome Data Viewer
    Location:
    17 A3.3; 17 15.03 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (29077262..29109282)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (28858286..28890308)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 13 Neighboring gene STARR-seq mESC enhancer starr_42232 Neighboring gene STARR-seq mESC enhancer starr_42233 Neighboring gene STARR-positive B cell enhancer ABC_E167 Neighboring gene predicted gene, 35883 Neighboring gene bromodomain and PHD finger containing, 3 Neighboring gene STARR-positive B cell enhancer ABC_E11634 Neighboring gene STARR-seq mESC enhancer starr_42238 Neighboring gene STARR-seq mESC enhancer starr_42239 Neighboring gene STARR-positive B cell enhancer ABC_E9947 Neighboring gene RIKEN cDNA 1700030A11 gene Neighboring gene BCL2 interacting protein 5 Neighboring gene STARR-seq mESC enhancer starr_42241 Neighboring gene predicted gene 16191 Neighboring gene peroxisomal, testis specific 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification mouse patatin-like phospholipase domain containing protein 1 as a skin-specific and membrane-associated protein. Chang PA, et al. Gene, 2016 Oct 15. PMID 27267404
    2. ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization. Meyer JM, et al. J Invest Dermatol, 2023 Feb. PMID 36116510
    3. PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides. Grond S, et al. J Invest Dermatol, 2017 Feb. PMID 27751867, Free PMC Article
    4. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis. Hirabayashi T, et al. Nat Commun, 2017 Mar 1. PMID 28248300, Free PMC Article
    5. Neddylation is required for perinatal cardiac development through stimulation of metabolic maturation. Zou J, et al. Cell Rep, 2023 Jan 31. PMID 36662623, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.
      Title: ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.
    2. PNPLA1 catalyses the omega-O-esterification with linoleic acid to form acylceramides.
      Title: PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.
    3. an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin.
      Title: PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
    4. results indicate PNPLA1 is a skin-specific and membrane-associated protein, suggesting that it may mainly play a role in the skin
      Title: Identification mouse patatin-like phospholipase domain containing protein 1 as a skin-specific and membrane-associated protein.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acyltransferase activity, transferring groups other than amino-acyl groups IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables acyltransferase activity, transferring groups other than amino-acyl groups ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables omega-hydroxyceramide transacylase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables omega-hydroxyceramide transacylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables omega-hydroxyceramide transacylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables structural constituent of skin epidermis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables triacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ceramide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in omega-hydroxyceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in omega-hydroxyceramide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in omega-hydroxyceramide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in triglyceride catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    omega-hydroxyceramide transacylase
    Names
    patatin-like phospholipase domain-containing protein 1
    NP_001030057.1
    XP_006524644.1
    XP_006524645.1
    XP_006524648.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001034885.3 → NP_001030057.1  omega-hydroxyceramide transacylase

      See identical proteins and their annotated locations for NP_001030057.1

      Status: VALIDATED

      Source sequence(s)
      AC140278
      Consensus CDS
      CCDS37533.1
      UniProtKB/Swiss-Prot
      Q3V1D5
      UniProtKB/TrEMBL
      B2KF06
      Related
      ENSMUSP00000050123.6, ENSMUST00000056866.8
      Conserved Domains (1) summary
      cl11396
      Location:3 → 372
      Patatin_and_cPLA2; Patatins and Phospholipases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      29077262..29109282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524585.4 → XP_006524648.1  omega-hydroxyceramide transacylase isoform X2

      Conserved Domains (1) summary
      cl11396
      Location:3 → 352
      Patatin_and_cPLA2; Patatins and Phospholipases

    2. XM_006524581.5 → XP_006524644.1  omega-hydroxyceramide transacylase isoform X1

      See identical proteins and their annotated locations for XP_006524644.1

      Conserved Domains (2) summary
      PTZ00449
      Location:211 → 497
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      cl11396
      Location:2 → 296
      Patatin_and_cPLA2; Patatins and Phospholipases

    3. XM_006524582.5 → XP_006524645.1  omega-hydroxyceramide transacylase isoform X1

      See identical proteins and their annotated locations for XP_006524645.1

      Conserved Domains (2) summary
      PTZ00449
      Location:211 → 497
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      cl11396
      Location:2 → 296
      Patatin_and_cPLA2; Patatins and Phospholipases
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V1D5.1 GenPept UniProtKB/Swiss-Prot:Q3V1D5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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