1. Gene
  2. GALNT1 - polypeptide N-acetylgalactosaminyltransferase 1 Gene

GALNT1 - polypeptide N-acetylgalactosaminyltransferase 1 Gene

中文名称:多肽 N-乙酰半乳糖氨基转移酶 1

种属: Homo sapiens

同用名: GALNAC-T1

基因 ID: 2589 | 基因类型: protein coding

关于 GALNT1

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:35,580,922-35,711,834 (from NCBI)

This gene has 6 transcripts (splice variants), 220 orthologues and 19 paralogues. Ubiquitous expression in urinary bladder (RPKM 44.6), esophagus (RPKM 32.6) and 25 other tissues.

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。文献中已经描述了源自该基因的转录变体,这些变体利用替代的 polyA 信号。[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. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]

GALNT1 基因产物(10)

mRNA Protein Name
NM_001384438.1 NP_001371367.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384439.1 NP_001371368.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384440.1 NP_001371369.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384441.1 NP_001371370.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384442.1 NP_001371371.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384443.1 NP_001371372.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384444.1 NP_001371373.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384445.1 NP_001371374.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384446.1 NP_001371375.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_020474.4 NP_065207.2 polypeptide N-acetylgalactosaminyltransferase 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables manganese ion binding IDA
IDA: 通过直接分析推断
9295285 GOA
enables polypeptide N-acetylgalactosaminyltransferase activity IDA
IDA: 通过直接分析推断
8690719 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein O-linked glycosylation IDA
IDA: 通过直接分析推断
22186971 GOA
involved in protein O-linked glycosylation via serine IDA
IDA: 通过直接分析推断
9295285 GOA
involved in protein O-linked glycosylation via threonine IDA
IDA: 通过直接分析推断
9295285 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with Golgi apparatus IDA
IDA: 通过直接分析推断
12506059 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
12506059 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GALNT1 蛋白结构

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (119 - 303)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (432 - 548)

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  • 200
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  • 400
  • 500
  • 559 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 1

GalNAc transferase 1

关联疾病

疾病名称 别名
Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome

KLEFS1

Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome

9q-Syndrome

9qstds

Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GALNT1 VGNC VGNC:41084
Felis catus GALNT1 VGNC VGNC:62442
Rattus norvegicus GALNT1 RGD RGD:620358
Bos taurus GALNT1 VGNC VGNC:29222
Macaca mulatta GALNT1 VGNC VGNC:72871
Mus musculus GALNT1 MGD MGI:894693
Others GALNT1 NCBI