A4GALT Gene Summary [Human]
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | A4GALT |
| Official Name | alpha 1,4-galactosyltransferase (P blood group) [Source:HGNC Symbol;Acc:HGNC:18149] |
| Ensembl ID | ENSG00000128274 |
| Bio databases IDs | |
| Aliases | alpha 1,4-galactosyltransferase (P blood group), Gb3 synthase, CD77 synthase, globotriaosylceramide synthase, lactosylceramide 4-alpha-galactosyltransferase |
| Synonyms | A14GALT, A4GALT1, alpha 1,4-galactosyltransferase, alpha 1,4-galactosyltransferase (P1PK blood group), Alpha4 GalT, Alpha4Gal-T1, CD77, CD77 synthase, Gb3, GB3/CD77, Gb3S, GB3 SYNTHASE, P1, P1PK, PK, P(k), α 1,4-galactosyltransferase, α 1,4-galactosyltransferase (P1PK blood group) |
| 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 A4GALT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyltransferase sugar-binding region containing DXD motif
- Alpha 1,4-glycosyltransferase conserved region
- galactosyltransferase
- lactosylceramide 4-alpha-galactosyltransferase
- enzyme
- toxin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- thromboembolism
- renal failure
- congenital cortical hyperostosis
- NOR polyagglutination syndrome
- chronic kidney disease
- infection by HIV-1
role in cell
- expression in
- cell death
- apoptosis
- binding in
- invasiveness
- synthesis in
- turnover in
- organization
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
- detergent-insoluble membrane fraction
- cell surface
- cellular membrane
- Golgi Apparatus
- granules
- Golgi membrane
- trans Golgi network
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human A4GALT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- globoside biosynthetic process
- plasma membrane organization
- protein O-linked glycosylation
- glycosphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- toxin binding
- acetylglucosaminyltransferase activity
- galactosyltransferase activity
- lactosylceramide 4-alpha-galactosyltransferase activity