GALNT3 Gene Summary [Human]
This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GALNT3 |
| Official Name | polypeptide N-acetylgalactosaminyltransferase 3 [Source:HGNC Symbol;Acc:HGNC:4125] |
| Ensembl ID | ENSG00000115339 |
| Bio databases IDs | |
| Aliases | polypeptide N-acetylgalactosaminyltransferase 3, polypeptide GalNAc transferase 3 |
| Synonyms | GalNAc-T3, HFTC, HFTC1, HHS, LOC102724230, polypeptide N-acetylgalactosaminyltransferase 3, Ppgantase t3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GALNT3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ricin-type beta-trefoil lectin domain
- Glycosyl transferase family 2
- Ricin-type beta-trefoil
- polypeptide N-acetylgalactosaminyltransferase
- N-terminal domain of galactosyltransferase
- calcium ion binding
- enzyme
- protein binding
- manganese ion binding
- glycosyltransferase family A
- ricin B-type lectin domain, beta-trefoil fold
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- familial hyperphosphatemic tumoral calcinosis type 1
- non-insulin-dependent diabetes mellitus
- hypercalcemia
- teratozoospermia
- growth failure
- Parkinson disease
- androgenic alopecia
- early missed abortion
- hyperphosphatemia
- uterine serous papillary cancer
role in cell
- accumulation in
- expression in
- apoptosis
- cell cycle progression
- differentiation
- quantity
- growth
- survival
- abnormal morphology
- endochondral ossification by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- cellular membrane
- Golgi Apparatus
- Golgi membrane
- Golgi stacks
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GALNT3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- protein O-linked glycosylation
- spermatogenesis
- protein O-linked glycosylation via serine
- protein O-linked glycosylation via threonine
- fibroblast growth factor receptor signaling pathway
- O-glycan processing
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- Golgi cisterna membrane
- membrane
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- calcium ion binding
- manganese ion binding
- carbohydrate binding
- polypeptide N-acetylgalactosaminyltransferase activity