Q8VI38
Gene name |
Gbgt1 |
Protein name |
Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 |
Names |
Forssman glycolipid synthase |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:227671 |
EC number |
2.4.1.88: Hexosyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8VI38
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8VI38-F1 | Predicted | AlphaFoldDB |
19 variants for Q8VI38
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs246467224 | 16 | G>A | No | EVA | |
| rs3388537855 | 22 | V>L | No | EVA | |
| rs3388539575 | 76 | P>L | No | EVA | |
| rs3388537395 | 85 | W>L | No | EVA | |
| rs3388540003 | 91 | S>T | No | EVA | |
| rs3388537783 | 149 | H>Y | No | EVA | |
| rs3388541192 | 151 | P>H | No | EVA | |
| rs230714739 | 171 | Q>H | No | EVA | |
| rs3388541289 | 171 | Q>R | No | EVA | |
| rs248185599 | 220 | L>F | No | EVA | |
| rs3391391391 | 253 | D>E | No | EVA | |
| rs3391393827 | 254 | N>D | No | EVA | |
| rs3388538909 | 257 | D>N | No | EVA | |
| rs3388534776 | 276 | T>I | No | EVA | |
| rs3388534703 | 288 | A>G | No | EVA | |
| rs3388538880 | 289 | N>Y | No | EVA | |
| rs256290907 | 334 | R>Q | No | EVA | |
| rs3388534692 | 347 | T>I | No | EVA | |
| rs3388535886 | 347 | T>S | No | EVA |
No associated diseases with Q8VI38
No regional properties for Q8VI38
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8VI38 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.88 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| globoside alpha-N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: N-acetyl-D-galactosaminyl-(1,3)-D-galactosyl-(1,4)-D-galactosyl-(1,4)-D-glucosylceramide + UDP-N-acetylgalactosamine = N-acetyl-D-galactosaminyl-N-acetyl-D-galactosaminyl-(1,3)-D-galactosyl-(1,4)-D-galactosyl-(1,4)-D-glucosylceramide + UDP. |
| metal ion binding | Binding to a metal ion. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| globoside metabolic process | The chemical reactions and pathways involving globosides, globotetraosylceramides, ceramides containing a core structure of GalNAc-beta-(1->3)-Gal-alpha-(1->4)-Glc(I). Globosides are the major neutral glycosphingolipid in normal kidneys and erythrocytes. |
| lipid glycosylation | Covalent attachment of a glycosyl residue to a lipid molecule. |
| protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTRPRLAQGL | AFFLLGGTGL | WVLWKFIKDW | LLVSYIPYYL | PCPEFFNMKL | PFRKEKPLQP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VTQLQYPQPK | LLEHGPTELL | TLTPWLAPIV | SEGTFDPELL | KSMYQPLNLT | IGVTVFAVGK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YTCFIQRFLE | SAEEFFMRGY | QVHYYLFTHD | PTAVPRVPLG | PGRLLSIIPI | QGYSRWEEIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MRRMETINKH | IAKRAHKEVD | YLFCVDVDMV | FRNPWGPETL | GDLVAAIHPG | YFAVPRRKFP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YERRQVSSAF | VADNEGDFYY | GGALFGGRVA | RVYEFTRACH | MAILADKANS | IMAAWQEESH |
| 310 | 320 | 330 | 340 | ||
| LNRHFIWHKP | SKVLSPEYLW | DERKPRPRSL | KMIRFSSVKK | NANWLRT |