C1GALT1 (core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1)
- symbol:
- C1GALT1
- locus group:
- protein-coding gene
- location:
- 7p22.1-p21.3
- gene_family:
- Beta 3-glycosyltransferases
- alias symbol:
- C1GALT|T-synthase
- alias name:
- core 1 beta3-Gal-T
- entrez id:
- 56913
- ensembl gene id:
- ENSG00000106392
- ucsc gene id:
- uc003srb.4
- refseq accession:
- NM_020156
- hgnc_id:
- HGNC:24337
- approved reserved:
- 2005-01-26
C1GALT1（核心1 β1,3-半乳糖基转移酶1）是一种编码糖基转移酶的基因，负责在O-聚糖生物合成途径中催化核心1结构（T抗原）的形成。该酶将半乳糖转移至N-乙酰半乳糖胺（GalNAc），形成Galβ1-3GalNAc结构，这是许多粘蛋白型O-聚糖的基础结构。C1GALT1的表达产物主要在高尔基体中发挥作用，对细胞表面糖蛋白和糖脂的糖基化修饰至关重要，影响细胞粘附、信号传导和免疫应答等过程。C1GALT1属于糖基转移酶家族，该家族成员共性是通过转移单糖来修饰蛋白质或脂类，参与复杂的糖链合成。C1GALT1的功能异常与多种疾病相关，特别是癌症。其突变可能导致糖基化缺陷，影响细胞间相互作用和肿瘤转移。在结直肠癌、胃癌和乳腺癌等恶性肿瘤中，C1GALT1的过表达常与肿瘤进展和不良预后相关，可能通过改变细胞表面糖基化模式促进肿瘤细胞侵袭和转移。相反，C1GALT1表达降低可能导致Tn抗原（GalNAcα1-O-Ser/Thr）的积累，这与自身免疫性疾病如Tn综合征有关，患者表现为血小板减少和出血倾向。C1GALT1的活性还受到分子伴侣COSMC的严格调控，两者共同维持O-糖基化的正常模式。在炎症性肠病中，C1GALT1表达异常可能破坏肠道屏障功能。此外，C1GALT1通过调节Notch等信号通路影响细胞分化，其表达水平变化可能干扰发育过程。该基因的遗传变异也被发现与某些先天性疾病相关。研究C1GALT1的功能对于理解糖基化在生理和病理过程中的作用具有重要意义，并为相关疾病的诊断和治疗提供潜在靶点。
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]
Gene Ontology
Subcellular localization of C1GALT1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for C1GALT1:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 512 Mucin type O-glycan biosynthesis [PATH:hsa00512] |
| Name |
|---|
| Metabolism of proteins |
| O-linked glycosylation |
| O-linked glycosylation of mucins |
| Post-translational protein modification |
| Disease | Score | NofPmids | NofSnps | Source |
| IGA Glomerulonephritis | 0.010086957 | 11 | 0 | BeFree_GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Multiple Sclerosis | 0.002367032 | 1 | 1 | GAD |
| Behcet Syndrome | 0.002367032 | 1 | 1 | GAD |
| Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Tn Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Henoch-Schoenlein Purpura | 0.000542884 | 2 | 0 | BeFree |
| Nephritis | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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