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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

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