PNPLA1

Chr 6p21.31

patatin like domain 1, omega-hydroxyceramide transacylase

Aliases:: FLJ38755, dJ50J22.1
MANE:: ENST00000636260.2

OMIM: 612121 ↗NCBI: 285848 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PNPLA1 · Q8N8W4

v62025-08-01

Predicted Aligned Error matrix for PNPLA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.8/ 100

Low

532 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)12%
Low(50–70)9%
Very low(< 50)47%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital non-bullous ichthyosiform erythroderma
0.74
congenital reticular ichthyosiform erythroderma
0.62
lamellar ichthyosis
0.54
ichthyosis
0.50
inherited ichthyosis
0.47
autosomal recessive congenital ichthyosis
0.39
ulcerative colitis
0.27
Abnormality of the skin
0.27
ovarian neoplasm
0.25
rheumatoid arthritis
0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Omega-hydroxyceramide transacylase

Omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier formation (PubMed:27751867, PubMed:28248318). Catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramide (PubMed:27751867, PubMed:28248318). Omega-O-acylceramides, are required for the biogenesis of lipid lamellae in the stratum corneum and the formation of the cornified lipid envelope which are essential for the epidermis barrier function (PubMed:22246504, PubMed:27751867, PubMed:28248318). These lipids also play a role in keratinocyte differentiation (By similarity). May also act on omega-hydroxylated ultra-long chain fatty acids (omega-OH ULCFA) and acylglucosylceramides (GlcEOS) (By similarity)