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GBA2 Q9HCG7

非溶酶体葡萄糖神经酰胺酶 (NLGase) (EC 3.2.1.45) (β-葡萄糖脑苷脂酶 2) (β-葡萄糖苷酶 2) (胆汁酸β-葡萄糖苷酶 GBA2) (胆汁酸葡萄糖基转移酶 GBA2) (胆固醇葡萄糖基转移酶 GBA2) (EC 2.4.1.-) (胆固醇-β-葡萄糖苷酶 GBA2) (EC 3.2.1.-) (葡萄糖神经酰胺酶 2) (非溶酶体胆固醇糖基转移酶) (非溶酶体半乳糖神经酰胺酶) (EC 3.2.1.46) (非溶酶体糖基神经酰胺酶)

蛋白质信息 (UniProt)

非溶酶体葡萄糖神经酰胺酶 (NLGase) (EC 3.2.1.45) (β-葡萄糖脑苷脂酶 2) (β-葡萄糖苷酶 2) (胆汁酸β-葡萄糖苷酶 GBA2) (胆汁酸葡萄糖基转移酶 GBA2) (胆固醇葡萄糖基转移酶 GBA2) (EC 2.4.1.-) (胆固醇-β-葡萄糖苷酶 GBA2) (EC 3.2.1.-) (葡萄糖神经酰胺酶 2) (非溶酶体胆固醇糖基转移酶) (非溶酶体半乳糖神经酰胺酶) (EC 3.2.1.46) (非溶酶体糖基神经酰胺酶)

Q9HCG7

功能描述

非溶酶体葡萄糖神经酰胺酶,催化葡萄糖神经酰胺/GlcCers(如beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine)水解为游离葡萄糖和神经酰胺(如N-acylsphing-4-enine)(PubMed:17105727, PubMed:30308956, PubMed:32144204)。GlcCers是膜糖鞘脂,具有广泛的细胞内分布(By similarity)。它们是更复杂糖鞘脂的主要前体,在细胞生长、分化、粘附、信号传导、细胞骨架动力学和膜特性中发挥作用(By similarity)。参与胆固醇的转糖基作用,将葡萄糖从GlcCer转移至胆固醇,从而改变其水溶性和生物学特性(PubMed:32144204)。在特定条件下,可能催化逆反应,将葡萄糖从胆甾醇-3-beta-D-葡萄糖苷转移至神经酰胺(如N-acylsphing-4-enine)(Probable)。可能在胆汁酸代谢中发挥作用(PubMed:11489889, PubMed:17080196, PubMed:9111029)。能够水解胆汁酸3-O-葡萄糖苷,并凭借胆汁酸葡萄糖基转移酶活性生成胆汁酸-葡萄糖结合物(PubMed:11489889, PubMed:17080196, PubMed:9111029)。催化半乳糖神经酰胺/GalCers(如beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine)的水解,以及GalCers与胆固醇之间的半乳糖基转移,与针对GlcCers的活性相比,其在体外活性较低(PubMed:32144204)。 {ECO:0000250|UniProtKB:Q69ZF3, ECO:0000269|PubMed:11489889, ECO:0000269|PubMed:17080196, ECO:0000269|PubMed:17105727, ECO:0000269|PubMed:30308956, ECO:0000269|PubMed:32144204, ECO:0000269|PubMed:9111029, ECO:0000305|PubMed:32144204}。

组织特异性

Widely expressed (PubMed:11489889). Mainly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower levels in liver, spleen, small intestine and lung (PubMed:11489889). Detectable in colon, thymus and peripheral blood leukocytes (PubMed:11489889).

亚细胞定位

Endoplasmic reticulum membrane

关键词

Alternative splicing Cholesterol metabolism Direct protein sequencing Disease variant Endoplasmic reticulum Glycosidase Glycosyltransferase Golgi apparatus Hereditary spastic paraplegia Hydrolase