GALNT4 (polypeptide N-acetylgalactosaminyltransferase 4)
- symbol:
- GALNT4
- locus group:
- protein-coding gene
- location:
- 12q21.33
- gene_family:
- Polypeptide N-acetylgalactosaminyltransferases
- alias symbol:
- GalNAc-T4
- alias name:
- polypeptide GalNAc transferase 4
- entrez id:
- 8693
- ensembl gene id:
- ENSG00000257594
- ucsc gene id:
- uc001tbd.4
- refseq accession:
- NM_003774
- hgnc_id:
- HGNC:4126
- approved reserved:
- 1998-11-13
GALNT4（多肽N-乙酰氨基半乳糖转移酶4）属于GALNT基因家族，该家族共有20个成员，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）。GALNT家族成员的共性是它们都含有保守的糖基转移酶结构域，但各自具有不同的底物特异性和组织分布。GALNT4主要在胃肠道、胰腺和睾丸中表达，其表达产物通过O-糖基化修饰影响蛋白质的稳定性、细胞定位和功能。GALNT4的生物学功能包括参与粘蛋白的糖基化、调节细胞间粘附和信号传导。该基因的突变可能导致糖基化异常，影响粘蛋白功能，与炎症性肠病（如克罗恩病）和某些癌症（如胰腺癌）的发生发展相关。GALNT4过表达可能增强某些粘蛋白的糖基化，促进肿瘤细胞的迁移和侵袭，而降低表达则可能导致粘蛋白功能缺陷，影响肠道屏障功能。此外，GALNT4的表达水平变化可能影响其他糖基转移酶的活性，从而改变整体糖基化模式。研究表明，GALNT4在胰腺癌中高表达，可能通过调节粘蛋白1（MUC1）的糖基化促进肿瘤进展。GALNT基因家族的成员在功能上既有重叠又有分工，共同调控复杂的O-糖基化网络，影响多种生理和病理过程。
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. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
Gene Ontology
Subcellular localization of GALNT4 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for GALNT4:
| 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 |
| Acute Coronary Syndrome | 0.002638474 | 1 | 0 | BeFree_GAD |
| Coronary Artery Disease | 0.002638474 | 1 | 0 | BeFree_GAD |
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