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POMT1 Q9Y6A1

蛋白质O-甘露糖基转移酶1 (EC 2.4.1.109) (多萜醇磷酸甘露糖--蛋白质甘露糖基转移酶1)

蛋白质信息 (UniProt)

蛋白质O-甘露糖基转移酶1 (EC 2.4.1.109) (多萜醇磷酸甘露糖--蛋白质甘露糖基转移酶1)

Q9Y6A1

功能描述

将甘露糖基转移至丝氨酸或苏氨酸残基的羟基上。POMT1和POMT2的共表达是酶活性所必需的,仅表达POMT1或POMT2是不够的 (PubMed:12369018, PubMed:14699049, PubMed:28512129)。主要专一于alpha-DAG1和少数其他蛋白的O-甘露糖糖基化,但不作用于钙黏蛋白和原钙黏蛋白 (PubMed:28512129)。 {ECO:0000269|PubMed:12369018, ECO:0000269|PubMed:14699049, ECO:0000269|PubMed:28512129}。

组织特异性

Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.

亚细胞定位

Endoplasmic reticulum membrane

关键词

Alternative splicing Congenital muscular dystrophy Disease variant Dystroglycanopathy Endoplasmic reticulum Glycoprotein Glycosyltransferase Limb-girdle muscular dystrophy Lissencephaly Membrane