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Literature summary for 2.3.1.296 extracted from

  • Ohno, Y.; Kamiyama, N.; Nakamichi, S.; Kihara, A.
    PNPLA1 is a transacylase essential for the generation of the skin barrier lipid omega-O-acylceramide (2017), Nat. Commun., 8, 14610 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.3.1.296

Cloned(Commentary)

Cloned (Comment) Organism
expressed in HEK-293Tcells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A34T the mutant shows about 20% of wild type activity Homo sapiens
A59V the mutant shows about 20% of wild type activity Homo sapiens
E131X inactive Homo sapiens

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 Homo sapiens
-
 a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

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
-
 Homo sapiens a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
 ?
linoleate-containing triacyl-sn-glycerol + N-omega-hydroxytriacontanoyl-D-erythro-sphingosine
-
 Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
omega-hydroxyceramide transacylase
-
 Homo sapiens
PNPLA1
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction the enzyme activity is impaired in ichthyosis-causative mutants Homo sapiens
physiological function the enzyme is essential for the generation of the skin barrier lipid omega-O-acylceramide Homo sapiens