GALNT6 (polypeptide N-acetylgalactosaminyltransferase 6)
- symbol:
- GALNT6
- locus group:
- protein-coding gene
- location:
- 12q13.13
- gene_family:
- Polypeptide N-acetylgalactosaminyltransferases
- alias symbol:
- GalNAc-T6
- alias name:
- polypeptide GalNAc transferase 6
- entrez id:
- 11226
- ensembl gene id:
- ENSG00000139629
- ucsc gene id:
- uc001ryl.2
- refseq accession:
- NM_007210
- hgnc_id:
- HGNC:4128
- approved reserved:
- 1999-09-16
GALNT6（多肽N-乙酰氨基半乳糖转移酶6）属于GALNT基因家族，该家族由20个成员组成，负责催化蛋白质O-糖基化的第一步反应，即在丝氨酸或苏氨酸残基上添加N-乙酰氨基半乳糖（GalNAc）。这种翻译后修饰对蛋白质功能、稳定性和细胞间通讯至关重要。GALNT6在多种组织中表达，尤其在乳腺、卵巢和胰腺中活性较高。其表达产物通过糖基化修饰影响粘蛋白型O-糖链的形成，参与细胞粘附、信号转导和免疫应答等过程。该基因的突变可能导致糖基化异常，与多种疾病相关，特别是癌症。研究发现GALNT6在乳腺癌、卵巢癌和胰腺癌中经常过表达，其过表达会增强EGFR等受体的糖基化，促进肿瘤细胞增殖、迁移和侵袭。相反，降低GALNT6表达可抑制这些恶性行为。GALNT6还通过调节MUC1等粘蛋白的糖基化影响肿瘤微环境。此外，GALNT6异常表达与阿尔茨海默病等神经退行性疾病也有关联，可能通过影响tau蛋白的糖基化参与病理过程。GALNT基因家族的共性在于都含有保守的糖基转移酶结构域，但各成员具有组织特异性表达模式和底物偏好性，这种多样性使它们能精细调控不同蛋白质的O-糖基化。GALNT6作为该家族重要成员，其表达水平变化会显著影响细胞表面受体和分泌蛋白的糖基化状态，进而改变细胞行为。
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of GALNT6 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for GALNT6:
| 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 |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
| Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
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