1. Gene
  2. GAL3ST1 - galactose-3-O-sulfotransferase 1 Gene

GAL3ST1 - galactose-3-O-sulfotransferase 1 Gene

中文名称:半乳糖-3-O-磺基转移酶 1

种属: Homo sapiens

同用名: CST

基因 ID: 9514 | 基因类型: protein coding

关于 GAL3ST1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:30,554,635-30,574,665 (from NCBI)

This gene has 22 transcripts (splice variants), 284 orthologues and 3 paralogues. Biased expression in kidney (RPKM 2.0), duodenum (RPKM 1.8) and 9 other tissues.

功能概要

磺化是许多药物、异生素、激素和神经递质代谢的重要步骤,由磺基转移酶催化。该基因编码半乳糖神经酰胺磺基转移酶,它催化膜糖脂的硫酸化,包括合成硫苷脂的最后一步,硫苷脂是髓鞘的主要脂质成分。该基因在卵巢上皮癌中表现出升高的表达,并且编码的酶在肾细胞癌中表现出升高的活性。该基因的突变可能与胰岛素抵抗降低有关。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 12 月]

Sulfonation, an important step in the metabolism of many drugs, xenobiotics, Hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded Enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced Insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GAL3ST1 基因产物(15)

mRNA Protein Name
NM_001318103.2 NP_001305032.1 galactosylceramide sulfotransferase isoform 1
NM_001318104.2 NP_001305033.1 galactosylceramide sulfotransferase isoform 1
NM_001318105.2 NP_001305034.1 galactosylceramide sulfotransferase isoform 1
NM_001318106.2 NP_001305035.1 galactosylceramide sulfotransferase isoform 1
NM_001318107.2 NP_001305036.1 galactosylceramide sulfotransferase isoform 2
NM_001318108.2 NP_001305037.1 galactosylceramide sulfotransferase isoform 1
NM_001318109.1 NP_001305038.1 galactosylceramide sulfotransferase isoform 3
NM_001318110.2 NP_001305039.1 galactosylceramide sulfotransferase isoform 1
NM_001318111.2 NP_001305040.1 galactosylceramide sulfotransferase isoform 1
NM_001318112.2 NP_001305041.1 galactosylceramide sulfotransferase isoform 1
NM_001318113.2 NP_001305042.1 galactosylceramide sulfotransferase isoform 1
NM_001318114.2 NP_001305043.1 galactosylceramide sulfotransferase isoform 2
NM_001318115.2 NP_001305044.1 galactosylceramide sulfotransferase isoform 1
NM_001318116.2 NP_001305045.1 galactosylceramide sulfotransferase isoform 1
NM_004861.3 NP_004852.1 galactosylceramide sulfotransferase isoform 1
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 galactosylceramide sulfotransferase activity IDA
IDA: 通过直接分析推断
8830034 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycerolipid metabolic process IDA
IDA: 通过直接分析推断
8830034 GOA
involved in sphingolipid metabolic process IDA
IDA: 通过直接分析推断
8830034 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

GAL3ST1 蛋白结构

Gal-3-0_sulfotr

Gal-3-0_sulfotr: Galactose-3-O-sulfotransferase (4 - 407)

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  • 423 a.a.
蛋白主名 其他名称

galactosylceramide sulfotransferase

3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase

关联疾病

疾病名称 别名
Metachromatic Leukodystrophy

Arylsulfatase A Deficiency

MLD

Arsa Deficiency

Sulfatide Lipidosis

Metachromatic Leukoencephalopathy

Cerebral Sclerosis, Diffuse, Metachromatic Form

Cerebroside Sulfatase Deficiency

Leukodystrophy, Metachromatic

Pseudoarylsulfatase A Deficiency

Leukodystrophy Metachromatic

Sulfatidosis

Metachromatic Leukodystrophy, Late Infantile

Metachromatic Leukodystrophy Variant

Deficiency Of Cerebroside-Sulfatase

Scholz Cerebral Sclerosis

Sulfatide Lipoidosis

Cerebral Sclerosis Diffuse Metachromatic Form

Arylsulfatase A Deficiency Disease

Cerebroside Sulphatase Deficiency Disease

Greenfield Disease

Metachromatic Leukodystrophy, Adult

Metachromatic Leukodystrophy, Juvenile

Leukodystrophy Metachromatic Adult

Leukodystrophy Metachromatic Juvenile

Leukodystrophy Metachromatic Late Infantile

Metachromatic Leukodystrophy, Adult Type

Metachromatic Leukodystrophy, Juvenile Type

Metachromatic Leukodystrophy, Infant

Greenfield'S Disease

Developmental And Epileptic Encephalopathy 84

DEE84

Jamuar Syndrome

Eiee84

Developmental And Epileptic Encephalopathy, 84

Epileptic Encephalopathy, Early Ifantile, 84

Early Infantile Epileptic Encephalopathy 84

Epileptic Encephalopathy, Early Infantile, 84

Encephalopathy, Epileptic, Early Infantile, Type 84

Leukodystrophy

Leukodystrophies

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

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
Macaca mulatta GAL3ST1 VGNC VGNC:107791
Mus musculus GAL3ST1 MGD MGI:1858277
Felis catus GAL3ST1 VGNC VGNC:80441
Canis familiaris GAL3ST1 VGNC VGNC:41076
Rattus norvegicus GAL3ST1 RGD RGD:1583379
Bos taurus GAL3ST1 VGNC VGNC:29213