2. Gene
  3. FUT1 - fucosyltransferase 1 (H blood group) Gene

FUT1 - fucosyltransferase 1 (H blood group) Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：岩藻糖基转移酶 1 (H 血型)

种属: Homo sapiens

同用名: H; HH; HSC

基因 ID: 2523 | 基因类型: protein coding

关于 FUT1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,748,011-48,755,358 (from NCBI)

This gene has 7 transcripts (splice variants), 141 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in stomach (RPKM 2.7), pancreas (RPKM 2.4) and 23 other tissues.

功能概要

该基因编码的高尔基体膜蛋白参与 H 抗原前体的产生，而 H 抗原是合成可溶性 A 和 B 抗原的最后一步所必需的。这是编码半乳糖苷 2-L-岩藻糖基转移酶的两个基因之一。该基因的突变是 H-Bombay 血型的原因。[RefSeq 提供，2016 年 8 月]

This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase Enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]

FUT1 基因产物(3)

mRNA Protein Name
NM_000148.4 NP_000139.1 galactoside alpha-(1,2)-fucosyltransferase 1
NM_001329877.1 NP_001316806.1 galactoside alpha-(1,2)-fucosyltransferase 1
NM_001384359.1 NP_001371288.1 galactoside alpha-(1,2)-fucosyltransferase 1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cell-matrix adhesion IMP
IMP: 通过突变表型推断
18205178 GOA
involved in positive regulation of endothelial cell migration IMP
IMP: 通过突变表型推断
18205178 GOA
involved in positive regulation of endothelial cell-matrix adhesion via fibronectin IMP
IMP: 通过突变表型推断
18205178 GOA
involved in positive regulation of sprouting angiogenesis IMP
IMP: 通过突变表型推断
18205178 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

FUT1 蛋白结构

Glyco_transf_11

Glyco_transf_11: Glycosyl transferase family 11 (38 - 353)

  • 0
  • 100
  • 200
  • 300
  • 365 a.a.
蛋白主名 其他名称

galactoside alpha-(1,2)-fucosyltransferase 1

GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1

关联疾病

疾病名称 别名
Bombay Phenotype

Bombay Phenotype, Digenic
Hemorrhagic Disease

Hemorrhagic Disorders

Hemorrhagic Diathesis

Hemorrhagic Diseases

Bleeding Tendency

Acquired Coagulation Factor Inhibitor Disorder

Acquired Inhibitor Of Coagulation

Antithrombinaemia

Antithromboplastinogenaemia

Circulating Anticoagulant Disorder

Haemorrhagic Disorder Due To Antithrombinaemia

Haemorrhagic Disorder Due To Excess Administered Heparin

Antithromboplastinaemia

Haemorrhagic Disorder Due To Hyperheparinemia
Orange Allergy

Citrus Sinensis Fruit Allergy
Chronic Purulent Otitis Media

Chronic Suppurative Otitis Media

Csom - [Chronic Suppurative Otitis Media]
Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05150 FUT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus FUT1 MGD MGI:109375
Rattus norvegicus FUT1 RGD RGD:2638
Bos taurus FUT1 VGNC VGNC:49145
Others FUT1 NCBI
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