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POMGNT1 Q8WZA1

蛋白质O-连接甘露糖β-1,2-N-乙酰氨基葡萄糖基转移酶1 (POMGnT1) (EC 2.4.1.-) (UDP-GlcNAc:α-D-甘露糖苷β-1,2-N-乙酰氨基葡萄糖基转移酶 I.2) (GnT I.2)

蛋白质信息 (UniProt)

蛋白质O-连接甘露糖β-1,2-N-乙酰氨基葡萄糖基转移酶1 (POMGnT1) (EC 2.4.1.-) (UDP-GlcNAc:α-D-甘露糖苷β-1,2-N-乙酰氨基葡萄糖基转移酶 I.2) (GnT I.2)

Q8WZA1

功能描述

通过催化将N-acetylglucosamine添加到糖蛋白上的O-连接甘氨酸,参与O-甘露糖基糖基化 (PubMed:11709191, PubMed:27493216, PubMed:28512129)。催化alpha-dystroglycan和其他O-甘露糖基化蛋白上GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr部分的合成,为添加进一步的碳水化合物部分提供必要基础 (PubMed:11709191, PubMed:27493216)。特异性针对alpha连接的末端甘露糖,不具有MGAT3、MGAT4、MGAT5、MGAT7或MGAT8活性。 {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:11742540, ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550, ECO:0000269|PubMed:27493216, ECO:0000269|PubMed:28512129}。

组织特异性

Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.

亚细胞定位

Golgi apparatus membrane

关键词

3D-structure Alternative splicing Congenital muscular dystrophy Disease variant Disulfide bond Dystroglycanopathy Glycosyltransferase Golgi apparatus Lectin Limb-girdle muscular dystrophy