Hmdb loader
Identification
HMDB Protein ID HMDBP12094
Secondary Accession Numbers None
Name Omega-hydroxyceramide transacylase
Synonyms
  1. Patatin-like phospholipase domain-containing protein 1
Gene Name PNPLA1
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function 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).
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
omega-hydroxyceramide biosynthetic process
ceramide biosynthetic process
triglyceride catabolic process
lipid homeostasis
Cellular Component
cytoplasm
lipid particle
membrane
Molecular Function
omega-hydroxyceramide transacylase activity
structural constituent of skin epidermis
triglyceride lipase activity
transferase activity, transferring acyl groups other than amino-acyl groups
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 446
Molecular Weight 57874.535
Theoretical pI 8.533
Pfam Domain Function Not Available
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q8N8W4
UniProtKB/Swiss-Prot Entry Name PLPL1_HUMAN
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
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  6. Grond S, Eichmann TO, Dubrac S, Kolb D, Schmuth M, Fischer J, Crumrine D, Elias PM, Haemmerle G, Zechner R, Lass A, Radner FPW: PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides. J Invest Dermatol. 2017 Feb;137(2):394-402. doi: 10.1016/j.jid.2016.08.036. Epub 2016 Oct 14. [PubMed:27751867 ]
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  8. Ohno Y, Kamiyama N, Nakamichi S, Kihara A: PNPLA1 is a transacylase essential for the generation of the skin barrier lipid omega-O-acylceramide. Nat Commun. 2017 Mar 1;8:14610. doi: 10.1038/ncomms14610. [PubMed:28248318 ]
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