蛋白质O-葡萄糖基转移酶1 (EC 2.4.1.376) (CAP10样46 kDa蛋白) (hCLP46) (含KTEL基序蛋白1) (骨髓增生异常综合征相关蛋白) (O-葡萄糖基转移酶Rumi同源物) (hRumi) (蛋白质O-木糖基转移酶POGLUT1) (EC 2.4.2.63)
蛋白质O-葡萄糖基转移酶1 (EC 2.4.1.376) (CAP10样46 kDa蛋白) (hCLP46) (含KTEL基序蛋白1) (骨髓增生异常综合征相关蛋白) (O-葡萄糖基转移酶Rumi同源物) (hRumi) (蛋白质O-木糖基转移酶POGLUT1) (EC 2.4.2.63)
Q8NBL1功能描述
双特异性糖基转移酶，分别催化葡萄糖和木糖从UDP-葡萄糖和UDP-木糖转移至共识序列C-X-S-X-P-C中的丝氨酸残基 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322)。特异性靶向protein（如CRB2、F7、F9和NOTCH2）的胞外EGF重复序列 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322)。作为Notch信号通路的正调节因子，通过介导Notch的O-葡萄糖基化来调节肌肉发育 (PubMed:27807076)。Notch葡萄糖基化不影响Notch配体结合 (PubMed:21490058)。早期发育过程中促进原肠胚形成所必需：通过介导CRB2的O-葡萄糖基化发挥作用，该修饰是CRB2定位于细胞膜所必需的 (By similarity)。 {ECO:0000250|UniProtKB:Q8BYB9, ECO:0000269|PubMed:21081508, ECO:0000269|PubMed:21490058, ECO:0000269|PubMed:21949356, ECO:0000269|PubMed:27807076, ECO:0000269|PubMed:28775322}。
组织特异性
Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level).
亚细胞定位
Endoplasmic reticulum lumen
关键词