1. Gene
  2. GALNTL6 - polypeptide N-acetylgalactosaminyltransferase like 6 Gene

GALNTL6 - polypeptide N-acetylgalactosaminyltransferase like 6 Gene

中文名称:多肽 N-乙酰半乳糖氨基转移酶样 6

种属: Homo sapiens

同用名: GALNT17; GALNACT20; GalNAc-T6L

基因 ID: 442117 | 基因类型: protein coding

关于 GALNTL6

Cytogenetic location: 4q34.1 Genomic coordinates (GRCh38): 4:171,813,404-173,041,559 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues and 19 paralogues. Low expression observed in reference dataset.

功能概要

启用多肽 N-乙酰半乳糖氨基转移酶活性。通过苏氨酸参与蛋白质 O-连接糖基化。预测位于高尔基体膜。预计是膜的组成部分。预测在高尔基体中活跃。 [由基因组资源联盟提供,2022 年 4 月]

Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

GALNTL6 基因产物(1)

mRNA Protein Name
NM_001034845.3 NP_001030017.2 polypeptide N-acetylgalactosaminyltransferase-like 6
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables polypeptide N-acetylgalactosaminyltransferase activity IDA
IDA: 通过直接分析推断
22186971 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein O-linked glycosylation via threonine IDA
IDA: 通过直接分析推断
22186971 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

GALNTL6 蛋白结构

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (143 - 327)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (454 - 582)

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  • 601 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase-like 6

GaNTase 17

关联疾病

疾病名称 别名
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Mus musculus GALNTL6 MGD MGI:1913581
Rattus norvegicus GALNTL6 RGD RGD:1564773
Canis familiaris GALNTL6 VGNC VGNC:59080
Macaca mulatta GALNTL6 VGNC VGNC:72813
Felis catus GALNTL6 VGNC VGNC:107336
Bos taurus GALNTL6 VGNC VGNC:29238