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Literature summary for 2.3.1.296 extracted from

  • Pichery, M.; Huchenq, A.; Sandhoff, R.; Severino-Freire, M.; Zaafouri, S.; Opalka, L.; Levade, T.; Soldan, V.; Bertrand-Michel, J.; Lhuillier, E.; Serre, G.; Maruani, A.; Mazereeuw-Hautier, J.; Jonca, N.
    PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier (2017), Hum. Mol. Genet., 26, 1787-1800 .
    View publication on PubMed
Search for more literature for 2.3.1.296

Protein Variants

Protein Variants Comment Organism
A34P the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
A34T the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
A59V the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
D129E the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
D172N the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
E131del the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
K141E the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
P163L the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
P89L the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
R274G the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
S112Y the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
S140P the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
S19L the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
T117M the mutation is associated with autosomal recessive congenital ichthyosis Homo sapiens
T125N the mutation is associated with autosomal recessive congenital ichthyosis 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 Mus musculus
-
 a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
 ?
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 Q8N8W4
-
-
Mus musculus
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
keratinocyte
-
 Mus musculus
-
keratinocyte
-
 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
-
 Mus musculus a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
 ?
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
-
 Homo sapiens a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
 ?

Synonyms

Synonyms Comment Organism
PNPLA1
-
 Mus musculus
PNPLA1
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme invalidation in mice induces a lethal phenotype with major defects in the epidermal barrier Mus musculus
physiological function the enzyme has an irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier Mus musculus
physiological function the enzyme has an irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier Homo sapiens