1. Gene
  2. FCSK - fucose kinase Gene

FCSK - fucose kinase Gene

中文名称:岩藻糖激酶

种属: Homo sapiens

同用名: FUK; CDGF2; 1110046B12Rik

基因 ID: 197258 | 基因类型: protein coding

关于 FCSK

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:70,454,595-70,480,274 (from NCBI)

This gene has 13 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 3.1), kidney (RPKM 2.8) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 GHMP (半乳糖、高丝氨酸、甲羟戊酸和磷酸甲羟戊酸) 激酶家族,催化 L-岩藻糖磷酸化形成 β-L-岩藻糖 1-磷酸。该酶催化在糖蛋白和糖脂合成中利用游离 L-岩藻糖的第一步。 L-岩藻糖可能在介导许多细胞间相互作用方面很重要,例如血型抗原识别、炎症和转移。虽然该基因可能存在多个转录变体,但迄今为止仅描述了一个的全长性质。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This Enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]

FCSK 基因产物(1)

mRNA Protein Name
NM_145059.3 NP_659496.2 L-fucose kinase
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 fucokinase activity IMP
IMP: 通过突变表型推断
30503518 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GDP-L-fucose salvage IMP
IMP: 通过突变表型推断
30503518 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

FCSK 蛋白结构

Fucokinase

Fucokinase: L-fucokinase (97 - 497)

GHMP_kinases_N

GHMP_kinases_N: GHMP kinases N terminal domain (828 - 884)

GHMP_kinases_C

GHMP_kinases_C: GHMP kinases C terminal (972 - 1048)

  • 0
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  • 1000
  • 1084 a.a.
蛋白主名 其他名称

L-fucose kinase

fucokinase

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation With Defective Fucosylation 2

CDGF2

Periventricular Leukomalacia

Leukomalacia, Periventricular

Pvl

Leukomalacia Periventricular

Pentosuria

Xylitol Dehydrogenase Deficiency

L-Xylulosuria

L-Xylulose Reductase Deficiency

Essential Pentosuria

PNTSU

Essential Benign Pentosuria

Schizophrenia 18

SCZD18

Schizophrenia 18 With Or Without An Affective Disorder

Schizophrenia Susceptibility 18

Chromosome 7q36.3 Duplication Syndrome, 362-Kb

Schizophrenia, Type 18

Schizophrenia 15

SCZD15

Schizophrenia 15 With Or Without An Affective Disorder

Schizophrenia Susceptibility Locus, Chromosome 22q13-Related

Schizophrenia Susceptibility Locus Chromosome 22q13-Related

Schizophrenia, Type 15

Oculogyric Crisis
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 FCSK MGD MGI:1916071
Macaca mulatta FCSK VGNC VGNC:72600
Felis catus FCSK VGNC VGNC:62219
Bos taurus FCSK VGNC VGNC:29142
Canis familiaris FCSK VGNC VGNC:41006
Rattus norvegicus FCSK RGD RGD:1307000