GBGT1 - globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) Gene
Also Known as FS; A3GALNT; UNQ2513
Species: Homo sapiens
About GBGT1
This gene has 12 transcripts (splice variants), 323 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 6.0), appendix (RPKM 5.4) and 24 other tissues.
Summary
This gene encodes a Glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to Microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GBGT1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001282629.2 | NP_001269558.1 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 2 |
| NM_001282632.2 | NP_001269561.1 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 3 |
| NM_001288572.2 | NP_001275501.1 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 4 |
| NM_001288573.2 | NP_001275502.1 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 5 |
| NM_021996.6 | NP_068836.2 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1 |
GBGT1 Protein Structure
Glyco_transf_6: Glycosyltransferase family 6 (17 - 347)
- 0
- 100
- 200
- 300
- 347 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
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| Inflammatory Bowel Disease 19 |
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| Niemann-Pick Disease, Type C1 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | GBGT1 | MGD | MGI:2449143 |
| Bos taurus | GBGT1 | VGNC | VGNC:59217 |
| Rattus norvegicus | GBGT1 | RGD | RGD:1591938 |
| Canis familiaris | GBGT1 | VGNC | VGNC:55567 |
| Others | GBGT1 | NCBI |