GALNT9 - polypeptide N-acetylgalactosaminyltransferase 9 Gene

中文名称：多肽 N-乙酰半乳糖氨基转移酶 9

种属: Homo sapiens

同用名: GALNACT9; GALNAC-T9

关于 GALNT9

功能概要

该基因编码 UDP-N-乙酰基-α-D-半乳糖胺：多肽 N-乙酰半乳糖胺基转移酶 (GalNAc-T) 酶家族的成员。 GalNAc-Ts 通过催化 GalNAc 转移到靶蛋白上的丝氨酸和苏氨酸残基，在高尔基体中启动粘蛋白型 O-连接糖基化。它们的特征在于 N 末端跨膜结构域、茎区、含有 GT1 基序和 Gal/GalNAc 转移酶基序的腔催化结构域，以及 C 末端蓖麻蛋白/凝集素样结构域。 GalNAc-T 具有不同但重叠的底物特异性和表达模式。该基因在大脑中特异性表达，在小脑中表达最高。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of Enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]