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Literature summary for 2.3.1.296 extracted from

  • Hirabayashi, T.; Anjo, T.; Kaneko, A.; Senoo, Y.; Shibata, A.; Takama, H.; Yokoyama, K.; Nishito, Y.; Ono, T.; Taya, C.; Muramatsu, K.; Fukami, K.; Munoz-Garcia, A.; Brash, A.R.; Ikeda, K.; Arita, M.; Akiyama, M.; Murakami, M.
    PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis (2017), Nat. Commun., 8, 14609 .
    View publication on PubMedView publication on EuropePMC

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide Mus musculus the enzyme is highly linoleate-selective a diacyl-sn-glycerol + a linoleate-esterified acylceramide
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?

Organism

Organism UniProt Comment Textmining
Mus musculus
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-
-

Source Tissue

Source Tissue Comment Organism Textmining
epidermis
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Mus musculus
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keratinocyte
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Mus musculus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide the enzyme is highly linoleate-selective Mus musculus a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
?

Synonyms

Synonyms Comment Organism
PNPLA1 patatin-like phospholipase domain-containing 1, gene name Mus musculus

General Information

General Information Comment Organism
malfunction mutations in in the enzyme gene cause autosomal recessive congenital ichthyosis. Enzyme-deficient mice show aberrant keratinocyte differentiation, defective acylceramide biosynthesis and impaired epidermal permeability barrier Mus musculus