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PNPLA1 Q8N8W4

Ω-羟基神经酰胺转酰基酶 (EC 2.3.1.296) (含Patatin样磷脂酶结构域蛋白1)

蛋白质信息 (UniProt)

Ω-羟基神经酰胺转酰基酶 (EC 2.3.1.296) (含Patatin样磷脂酶结构域蛋白1)

Q8N8W4

功能描述

Omega-羟基神经酰胺转酰基酶,参与omega-O-酰基神经酰胺(酯化omega-羟基酰基-鞘氨醇;EOS)的合成,这是一类参与皮肤屏障形成的极高疏水性脂质 (PubMed:27751867, PubMed:28248318)。通过将亚油酸从甘油三酯转移至omega-羟基神经酰胺,催化omega-O-酰基神经酰胺合成的最后一步 (PubMed:27751867, PubMed:28248318)。Omega-O-酰基神经酰胺是角质层中脂质薄层的生物发生和角质化脂质包膜形成所必需的,这对于表皮屏障功能至关重要 (PubMed:22246504, PubMed:27751867, PubMed:28248318)。这些脂质还在角质形成细胞分化中发挥作用 (By similarity)。也可能作用于omega-羟基化超长链脂肪酸 (omega-OH ULCFA) 和酰基葡萄糖神经酰胺 (GlcEOS) (By similarity)。 {ECO:0000250|UniProtKB:Q3V1D5, ECO:0000269|PubMed:22246504, ECO:0000269|PubMed:27751867, ECO:0000269|PubMed:28248318}。

组织特异性

Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers.

亚细胞定位

Cytoplasm

关键词

Alternative splicing Cytoplasm Disease variant Ichthyosis Lipid biosynthesis Lipid metabolism Proteomics identification Reference proteome Transferase