GALNT12 Gene Summary [Human]
This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
Details
| Type | Protein Coding |
| Official Symbol | GALNT12 |
| Official Name | polypeptide N-acetylgalactosaminyltransferase 12 [Source:HGNC Symbol;Acc:HGNC:19877] |
| Ensembl ID | ENSG00000119514 |
| Bio databases IDs | |
| Aliases | polypeptide N-acetylgalactosaminyltransferase 12, polypeptide GalNAc transferase 12 |
| Synonyms | 9130206E10, A630062B03RIK, CRCS1, FLJ21212, GalNAc-T12, mpp-GalNAc-T12, polypeptide N-acetylgalactosaminyltransferase 12, PPGALNACT12, pp-GaNTase, pp-GaNTase 12, RGD1562001, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12, UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 |
| 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 GALNT12 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
- enzyme
- protein binding
- Glycosyltransferase like family 2
- 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
- cancer
- susceptibility to colorectal cancer type 1
- fibrosarcoma
- pervasive developmental disorder
role in cell
- migration
- expression in
- phosphorylation in
- proliferation
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
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GALNT12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein O-linked glycosylation
- O-glycan processing
Cellular Component
Where in the cell the gene product is active
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- carbohydrate binding
- polypeptide N-acetylgalactosaminyltransferase activity