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XYLT1 Q86Y38

木糖基转移酶 1 (EC 2.4.2.26) (肽O-木糖基转移酶 1) (木糖基转移酶 I) (XT-I) (XylT-I)

蛋白质信息 (UniProt)

木糖基转移酶 1 (EC 2.4.2.26) (肽O-木糖基转移酶 1) (木糖基转移酶 I) (XT-I) (XylT-I)

Q86Y38

功能描述

催化硫酸软骨素和硫酸皮肤素蛋白聚糖(如DCN)生物合成的第一步。将D-木糖从UDP-D-木糖转移至核心蛋白的特定丝氨酸残基上 (PubMed:15461586, PubMed:17189265, PubMed:23982343, PubMed:24581741)。正常的胚胎和出生后骨骼发育所必需的,尤其是长骨 (PubMed:23982343, PubMed:24581741)。骨骼发育过程中软骨细胞的正常成熟以及骨化的正常起始所必需的 (By similarity)。 {ECO:0000250|UniProtKB:Q811B1, ECO:0000269|PubMed:15461586, ECO:0000269|PubMed:17189265, ECO:0000269|PubMed:23982343, ECO:0000269|PubMed:24581741}。

组织特异性

Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle.

亚细胞定位

Golgi apparatus membrane

关键词

3D-structure Direct protein sequencing Disease variant Disulfide bond Dwarfism Glycoprotein Glycosyltransferase Golgi apparatus Membrane Metal-binding