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Information on EC 2.3.1.296 - omega-hydroxyceramide transacylase and Organism(s) Homo sapiens and UniProt Accession Q8N8W4

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IUBMB Comments
The enzyme participates in the production of acylceramides in the stratum corneum, the outermost layer of the epidermis. Acylceramides are crucial components of the skin permeability barrier.
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This record set is specific for:
Homo sapiens
UNIPROT: Q8N8W4
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The taxonomic range for the selected organisms is: Homo sapiens
The enzyme appears in selected viruses and cellular organisms
Reaction Schemes
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a linoleate-containing triacyl-sn-glycerol
+
an ultra-long-chain omega-hydroxyceramide
=
a diacyl-sn-glycerol
+
a linoleate-esterified acylceramide
a linoleate-containing triacyl-sn-glycerol
+
an ultra-long-chain omega-hydroxyceramide
=
a diacyl-sn-glycerol
+
a linoleate-esterified acylceramide
Synonyms
pnpla1, patatin-like phospholipase domain-containing 1, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
omega-hydroxyceramide transacylase
-
-
patatin-like phospholipase domain-containing 1
-
-
patatin-like phospholipase domain-containing lipase 1
-
-
PNPLA1
PATHWAY SOURCE
PATHWAYS
-
-
SYSTEMATIC NAME
IUBMB Comments
triacyl-sn-glycerol:ultra-long-chain omega-hydroxyceramide omega-O-linoleoyltransferase
The enzyme participates in the production of acylceramides in the stratum corneum, the outermost layer of the epidermis. Acylceramides are crucial components of the skin permeability barrier.
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
show the reaction diagram
-
-
-
?
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
show the reaction diagram
linoleate-containing triacyl-sn-glycerol + N-omega-hydroxytriacontanoyl-D-erythro-sphingosine
?
show the reaction diagram
-
-
-
-
?
additional information
?
-
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
show the reaction diagram
-
-
-
?
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
show the reaction diagram
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
UniProt
Manually annotated by BRENDA team
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
physiological function
the enzyme has an irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier
malfunction
metabolism
physiological function
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
PLPL1_HUMAN
532
0
57875
Swiss-Prot
other Location (Reliability: 2)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
A34P
the mutation is associated with autosomal recessive congenital ichthyosis
A34T
the mutation is associated with autosomal recessive congenital ichthyosis
A59V
the mutation is associated with autosomal recessive congenital ichthyosis
D129E
the mutation is associated with autosomal recessive congenital ichthyosis
D172N
the mutation is associated with autosomal recessive congenital ichthyosis
E131del
the mutation is associated with autosomal recessive congenital ichthyosis
K141E
the mutation is associated with autosomal recessive congenital ichthyosis
P163L
the mutation is associated with autosomal recessive congenital ichthyosis
P89L
the mutation is associated with autosomal recessive congenital ichthyosis
R274G
the mutation is associated with autosomal recessive congenital ichthyosis
S112Y
the mutation is associated with autosomal recessive congenital ichthyosis
S140P
the mutation is associated with autosomal recessive congenital ichthyosis
S19L
the mutation is associated with autosomal recessive congenital ichthyosis
T117M
the mutation is associated with autosomal recessive congenital ichthyosis
T125N
the mutation is associated with autosomal recessive congenital ichthyosis
A34T
-
the mutant shows about 20% of wild type activity
E131del
-
the mutation is associated with congenital ichthyosis
E131X
-
inactive
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expressed in HEK-293T cells
-
expressed in HEK-293Tcells
-
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Hirabayashi, T.; Murakami, M.; Kihara, A.
The role of PNPLA1 in omega-O-acylceramide synthesis and skin barrier function
Biochim. Biophys. Acta
1864
869-879
2019
Homo sapiens
Manually annotated by BRENDA team
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
Hum. Mol. Genet.
26
1787-1800
2017
Homo sapiens (Q8N8W4), Homo sapiens, Mus musculus
Manually annotated by BRENDA team
Ohno, Y.; Nara, A.; Nakamichi, S.; Kihara, A.
Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome Stimulation of PNPLA1-catalyzed omega-O-acylceramide production by ABHD5
J. Dermatol. Sci.
92
245-253
2018
Homo sapiens
Manually annotated by BRENDA team
Kien, B.; Grond, S.; Haemmerle, G.; Lass, A.; Eichmann, T.O.; Radner, F.P.W.
ABHD5 stimulates PNPLA1-mediated omega-O-acylceramide biosynthesis essential for a functional skin permeability barrier
J. Lipid Res.
59
2360-2367
2018
Homo sapiens, Mus musculus
Manually annotated by BRENDA team
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.
8
14610
2017
Homo sapiens
Manually annotated by BRENDA team