FKTN O75072

核糖醇-5-磷酸转移酶 FKTN (EC 2.7.8.-) (Fukutin) (福山型先天性肌营养不良蛋白) (核糖醇-5-磷酸转移酶)

功能描述

催化核糖醇磷酸从CDP-核糖醇转移至磷酸化O-甘露糖基三糖（N-乙酰半乳糖胺-beta-3-N-乙酰葡糖胺-beta-4-(磷酸-6-)甘露糖）的远端N-乙酰半乳糖胺，该碳水化合物结构存在于α-肌营养不良聚糖（DAG1）中 (PubMed:26923585, PubMed:27194101, PubMed:29477842)。这是形成核糖醇5-磷酸串联重复序列的第一步，该串联重复序列将磷酸化O-甘露糖基三糖连接至由3-木糖基-alpha-1,3-葡糖醛酸-beta-1重复组成的配体结合部分 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842)。POMGNT1在高尔基体膜中的正常定位及其正常活性所必需 (PubMed:17034757)。可能相互作用并增强一个包含肌膜内外的大型复合物 (PubMed:25279699)。可能参与大脑发育 (Probable)。 {ECO:0000269|PubMed:17034757, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:27194101, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:11115853}。

组织特异性

Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853).

亚细胞定位

Golgi apparatus membrane