PNPLA1 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of PNPLA1 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of PNPLA1 at tissue level.

III. Associated gene sets

GO_0019433Biological processtriglyceride catabolic process
GO_0055088Biological processlipid homeostasis
GO_0106342Biological processomega-hydroxyceramide biosynthetic process
GO_0046513Biological processceramide biosynthetic process
GO_0005811Cellular componentlipid droplet
GO_0016020Cellular componentmembrane
GO_0005737Cellular componentcytoplasm
GO_0004806Molecular functiontriglyceride lipase activity
GO_0106341Molecular functionomega-hydroxyceramide transacylase activity
GO_0016747Molecular functionacyltransferase activity, transferring groups other than amino-acyl groups
GO_0030280Molecular functionstructural constituent of skin epidermis

IV. Literature review

[source]
Gene namePNPLA1
Protein nameOmega-hydroxyceramide transacylase (EC 2.3.1.296) (Patatin-like phospholipase domain-containing protein 1)
Patatin like phospholipase domain containing 1
Synonyms
DescriptionFUNCTION: 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 . Catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramide . 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 . 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). .

AccessionsENST00000636260.2
Q8N8W4
A0A1B0GW56
ENST00000394571.3 [Q8N8W4-1]
A0A0C4DG24
ENST00000388715.7 [Q8N8W4-2]
ENST00000312917.9 [Q8N8W4-3]
ENST00000457797.5