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a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
linoleate-containing triacyl-sn-glycerol + N-omega-hydroxytriacontanoyl-D-erythro-sphingosine
?
-
-
-
-
?
additional information
?
-
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
-
-
-
-
ir
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
-
-
-
-
?
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
-
-
-
ir
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
the enzyme is highly linoleate-selective
-
-
?
additional information
?
-
-
ABHD5 is a coactivator of the enzyme that stimulates the esterification of omega-hydroxy ceramides with linoleic acid for omega-O-acylceramide biosynthesis
-
-
?
additional information
?
-
-
ABHD5 promotes enzyme-dependent acylceramide production by retaining triglycerides in the endoplasmic reticulum and presenting them to the enzyme to promote substrate recognition
-
-
?
additional information
?
-
-
the enzyme fails to catalyze the hydrolysis of triglyceride as a lipase
-
-
?
additional information
?
-
-
ABHD5 is a coactivator of the enzyme that stimulates the esterification of omega-hydroxy ceramides with linoleic acid for omega-O-acylceramide biosynthesis
-
-
?
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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
-
-
-
-
?
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
-
-
-
ir
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
-
-
-
-
?
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
-
-
-
ir
a linoleate-containing triacyl-sn-glycerol + an ultra-long-chain omega-hydroxyceramide
a diacyl-sn-glycerol + a linoleate-esterified acylceramide
-
the enzyme is highly linoleate-selective
-
-
?
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Blindness
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.
Dermatitis, Atopic
Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis.
Dermatitis, Exfoliative
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Ichthyosiform Erythroderma, Congenital
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.
Ichthyosis
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.
Ichthyosis
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Ichthyosis
ABHD5 stimulates PNPLA1-mediated ?-O-acylceramide biosynthesis essential for a functional skin permeability barrier.
Ichthyosis
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy.
Ichthyosis
Elucidation of the Synthetic Mechanism of Acylceramide, an Essential Lipid for Skin Barrier Function.
Ichthyosis
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Ichthyosis
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
Ichthyosis
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis.
Ichthyosis
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.
Ichthyosis
Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.
Ichthyosis
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.
Ichthyosis
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.
Ichthyosis
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Ichthyosis
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.
Ichthyosis
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
Ichthyosis
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.
Ichthyosis
PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ?-O-acylceramide.
Ichthyosis
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Ichthyosis
Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs.
Ichthyosis
Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis.
Ichthyosis
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Ichthyosis
Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.
Ichthyosis
The role of PNPLA1 in ?-O-acylceramide synthesis and skin barrier function.
Ichthyosis
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study.
Ichthyosis
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
Ichthyosis
[Analysis of PNPLA1 gene mutation in a child with ichthyosis].
Ichthyosis
[Spontaneous models of human diseases in dogs: ichthyoses as an example].
Insulin Resistance
Genetic variance in the adiponutrin gene family and childhood obesity.
Leber Congenital Amaurosis
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5.
Obesity
Genetic variance in the adiponutrin gene family and childhood obesity.
omega-hydroxyceramide transacylase deficiency
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
Uterine Cervical Neoplasms
Identification of human patatin-like phospholipase domain-containing protein 1 and a mutant in human cervical cancer HeLa cells.
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malfunction
-
enzyme invalidation in mice induces a lethal phenotype with major defects in the epidermal barrier
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
malfunction
-
PNPLA1 is the causative genes of congenital ichthyosis
malfunction
-
the enzyme activity is impaired in ichthyosis-causative mutants
metabolism
-
the enzyme acts as a unique transacylase that specifically transfers linoleic acid from triglyceride to omega-hydroxy fatty acid in ceramide, thus giving rise to omega-O-acylceramide
metabolism
-
the enzyme catalyzes the final step in omega-O-acylceramide biosynthesis
metabolism
-
the enzyme catalyzes the final step in omega-O-acylceramide biosynthesis
physiological function
-
the enzyme has an irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier
physiological function
the enzyme has an irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier
physiological function
-
the enzyme is essential for the generation of the skin barrier lipid omega-O-acylceramide
physiological function
-
the enzyme plays a crucial role in the biosynthesis of omega-O-acylceramide, a particular class of sphingolipids that is essential for skin barrier function
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A34P
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
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
A34T
the mutation is associated with autosomal recessive congenital ichthyosis
A59V
-
the mutant shows about 20% of wild type activity
A59V
the mutation is associated with autosomal recessive congenital ichthyosis
A59V
-
the mutation is associated with congenital ichthyosis
E131del
the mutation is associated with autosomal recessive congenital ichthyosis
E131del
-
the mutation is associated with congenital ichthyosis
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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
brenda
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
Mus musculus, Homo sapiens (Q8N8W4), Homo sapiens
brenda
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
brenda
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
brenda
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
Nat. Commun.
8
14609
2017
Mus musculus
brenda
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
brenda