2. Gene
  3. C1GALT1 - core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 Gene

C1GALT1 - core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 Gene

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

中文名称：核心 1 合酶，糖蛋白-N-乙酰半乳糖胺 3-β-半乳糖基转移酶 1

种属: Homo sapiens

同用名: C1GALT; T-synthase

基因 ID: 56913 | 基因类型: protein coding

关于 C1GALT1

Cytogenetic location: 7p22.1-p21.3 Genomic coordinates (GRCh38): 7:7,157,377-7,248,616 (from NCBI)

This gene has 6 transcripts (splice variants), 148 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 7.5), duodenum (RPKM 6.7) and 24 other tissues.

功能概要

该基因编码的蛋白质通过将 Gal 从 UDP-Gal 转移到 GalNAc-alpha-1-R，生成共同核心 1 O-聚糖结构 Gal-beta-1-3GalNAc-R。核心 1 是细胞表面和分泌糖蛋白上许多延伸的粘蛋白型 O-聚糖的前体。对小鼠的研究表明，该基因在血小板生成和肾脏稳态中起着关键作用。[RefSeq 提供，2010 年 9 月]

The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]

C1GALT1 基因产物(1)

mRNA Protein Name
NM_020156.5 NP_064541.1 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 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 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity IDA
IDA: 通过直接分析推断
11677243 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21496458 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in angiogenesis IMP
IMP: 通过突变表型推断
17228361 GOA
involved in kidney development IMP
IMP: 通过突变表型推断
17228361 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
11677243 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

C1GALT1 蛋白结构

Fringe

Fringe: Fringe-like (93 - 253)

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

glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

B3Gal-T8

C1GALT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
C1GALT1 Q9NS00 C1GALT1C1 Homo sapiens Q96EU7
Enzymatic Study
21496458
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Iga Glomerulonephritis

Iga Nephropathy

Glomerulonephritis, Iga

Berger'S Iga Or Igg Nephropathy

Focal Glomerulonephritis

Primary Iga Nephropathy

Segmental Glomerulonephritis

Berger Disease

Berger'S Disease

Igan

Nephritis, Iga Type

Nephropathy Iga

Glomerulonephritis Focal

Iga Nephropathy, Susceptibility To

Primary Immunoglobulin A Nephropathy
Lutembacher'S Syndrome

Lutembacher Syndrome

Lutembacher'S Anomaly
Hypersensitivity Vasculitis

Cutaneous Small Vessel Vasculitis

Hypersensitivity Angiitis

Cutaneous Leukocytoclastic Vasculitis

Leukocytoclastic Angiitis

Vasculitis, Leukocytoclastic, Cutaneous

Leukocytoclastic Vasculitis

Cutaneous Leukocytoclastic Angiitis

Cutaneous Hypersensitivity Vasculitis

Vasculitis Hypersensitivity

Drug Induced Cutaneous Vasculitis

Allergic Vasculitis
Henoch-Schoenlein Purpura

Henoch-Schonlein Purpura

Iga Vasculitis

Allergic Purpura

Anaphylactoid Purpura

Rheumatoid Purpura

Immunoglobulin A Vasculitis

Vascular Purpura

Purpura Rheumatica

Henoch-Schönlein Purpura

Autoimmune Purpura

Henoch-Schnlein Purpura

Henoch-Sch@Nlein Purpura

Henoch-Scholein Purpura

Purpura, Autoimmune

Henoch Schonlein Purpura

Immunoglobulin-A Vasculitis

Purpura, Schonlein-Henoch

Purpura, Schönlein-Henoch

Hsp -

Schönlein-Henoch Purpura
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01707 C1GALT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01708 C1GALT1C1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus C1GALT1 VGNC VGNC:60217
Mus musculus C1GALT1 MGD MGI:2151071
Bos taurus C1GALT1 VGNC VGNC:26615
Canis familiaris C1GALT1 VGNC VGNC:38574
Rattus norvegicus C1GALT1 RGD RGD:621105
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