ST6GALNAC4 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4)
- symbol:
- ST6GALNAC4
- locus group:
- protein-coding gene
- location:
- 9q34.11
- gene_family:
- Sialyltransferases
- alias symbol:
- ST6GALNACIV|SIAT3C
- alias name:
- None
- entrez id:
- 27090
- ensembl gene id:
- ENSG00000136840
- ucsc gene id:
- uc004bss.3
- refseq accession:
- NM_175040
- hgnc_id:
- HGNC:17846
- approved reserved:
- 2001-12-19
ST6GALNAC4（ST6 N-乙酰半乳糖胺α-2,6-唾液酸转移酶4）是一种参与糖基化修饰的酶，属于ST6GALNAC基因家族。该基因家族共有6个成员（ST6GALNAC1-6），它们共同的特点是编码唾液酸转移酶，负责将唾液酸转移到糖蛋白或糖脂的末端N-乙酰半乳糖胺（GalNAc）上，形成α-2,6-唾液酸连接。这种修饰在细胞表面糖复合物的形成中起关键作用，影响细胞间识别、信号传导和免疫应答等过程。ST6GALNAC4主要在神经系统中高表达，其表达产物通过修饰神经细胞粘附分子（如PSA-NCAM）参与神经发育、突触可塑性和神经再生。研究表明，ST6GALNAC4的突变可能导致其酶活性改变，影响神经细胞的迁移和轴突导向，与某些神经系统疾病如精神分裂症和自闭症谱系障碍的发病机制相关。此外，ST6GALNAC4在多种癌症中异常表达，其过表达可能通过改变细胞表面糖基化模式促进肿瘤细胞的转移和侵袭，例如在乳腺癌和结肠癌中ST6GALNAC4的高表达与不良预后相关。相反，降低ST6GALNAC4表达可能抑制肿瘤进展，但同时也可能影响正常的神经功能。ST6GALNAC4还参与调控其他基因的表达或活性，例如通过修饰整合素或生长因子受体影响下游信号通路。该基因的功能复杂性体现在它既参与生理过程如神经发育，又与病理状态如癌症和精神疾病密切相关，这使得它成为糖生物学和疾病研究的重要靶点。
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of ST6GALNAC4 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for ST6GALNAC4:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 604 Glycosphingolipid biosynthesis - ganglio series [PATH:hsa00604] |
| Name |
|---|
| Asparagine N-linked glycosylation |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein |
| Metabolism of proteins |
| O-linked glycosylation |
| O-linked glycosylation of mucins |
| Post-translational protein modification |
| Sialic acid metabolism |
| Synthesis of substrates in N-glycan biosythesis |
| Termination of O-glycan biosynthesis |
| Disease | Score | NofPmids | NofSnps | Source |
| Guillain-Barre Syndrome | 0.00272435 | 1 | 0 | LHGDN |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
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