P23336
Gene name |
Ggta1 (Ggta-1) |
Protein name |
N-acetyllactosaminide alpha-1,3-galactosyltransferase |
Names |
UDP-galactose:beta-D-galactosyl-1,4-N-acetyl-D-glucosaminide alpha-1,3-galactosyltransferase, Galactosyltransferase |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:14594 |
EC number |
2.4.1.87: 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 P23336
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P23336-F1 | Predicted | AlphaFoldDB |
25 variants for P23336
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388540052 | 57 | W>L | No | EVA | |
| rs3388550625 | 76 | W>R | No | EVA | |
| rs3388548837 | 82 | K>* | No | EVA | |
| rs3388548923 | 87 | S>R | No | EVA | |
| rs231704471 | 93 | V>I | No | EVA | |
| rs257660651 | 101 | R>K | No | EVA | |
| rs3388548933 | 140 | D>E | No | EVA | |
| rs3391449829 | 145 | E>D | No | EVA | |
| rs3412273697 | 150 | T>P | No | EVA | |
| rs3388543933 | 158 | T>R | No | EVA | |
| rs3388548332 | 182 | M>R | No | EVA | |
| rs247827930 | 193 | I>M | No | EVA | |
| rs3388548296 | 218 | E>V | No | EVA | |
| rs3388548631 | 219 | K>S | No | EVA | |
| rs3388549004 | 222 | Q>R | No | EVA | |
| rs3388548276 | 227 | M>I | No | EVA | |
| rs3388548705 | 256 | F>L | No | EVA | |
| rs3388540015 | 265 | L>M | No | EVA | |
| rs3388548884 | 293 | A>V | No | EVA | |
| rs3388552364 | 301 | G>W | No | EVA | |
| rs3388547777 | 310 | F>L | No | EVA | |
| rs3388548876 | 322 | R>K | No | EVA | |
| rs3388547937 | 377 | S>G | No | EVA | |
| rs227468237 | 380 | V>I | No | EVA | |
| rs3391373600 | 382 | W>L | No | EVA |
2 associated diseases with P23336
[MIM: 613507]: Glycogen storage disease 15 (GSD15)
A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. {ECO:0000269|PubMed:20357282, ECO:0000269|PubMed:22160680}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616199]: Polyglucosan body myopathy 2 (PGBM2)
A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. {ECO:0000269|PubMed:25272951}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. {ECO:0000269|PubMed:20357282, ECO:0000269|PubMed:22160680}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. {ECO:0000269|PubMed:25272951}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P23336
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) | 219 - 398 | IPR002314 |
| domain | Aminoacyl-tRNA synthetase, class II | 173 - 408 | IPR006195 |
| domain | Serine-tRNA synthetase, type1, N-terminal | 1 - 108 | IPR015866 |
| domain | Serine-tRNA ligase catalytic core domain | 121 - 415 | IPR033729 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.87 | 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 cisterna | Any of the thin, flattened membrane-bounded compartments that form the central portion of the Golgi complex. |
| Golgi cisterna membrane | The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex. |
| 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. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| N-acetyllactosaminide 3-alpha-galactosyltransferase activity | Catalysis of the reaction: beta-D-galactosyl-(1,4)-beta-N-acetyl-D-glucosaminyl-R + UDP-galactose = alpha-D-galactosyl-(1,3)-beta-D-galactosyl-(1,4)-beta-N-acetyl-D-glucosaminyl-R + UDP. |
3 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. |
| 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 |
| MITMLQDLHV | NKISMSRSKS | ETSLPSSRSG | SQEKIMNVKG | KVILLMLIVS | TVVVVFWEYV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NRIPEVGENR | WQKDWWFPSW | FKNGTHSYQE | DNVEGRREKG | RNGDRIEEPQ | LWDWFNPKNR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PDVLTVTPWK | APIVWEGTYD | TALLEKYYAT | QKLTVGLTVF | AVGKYIEHYL | EDFLESADMY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FMVGHRVIFY | VMIDDTSRMP | VVHLNPLHSL | QVFEIRSEKR | WQDISMMRMK | TIGEHILAHI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QHEVDFLFCM | DVDQVFQDNF | GVETLGQLVA | QLQAWWYKAS | PEKFTYERRE | LSAAYIPFGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GDFYYHAAIF | GGTPTHILNL | TRECFKGILQ | DKKHDIEAQW | HDESHLNKYF | LFNKPTKILS |
| 370 | 380 | 390 | |||
| PEYCWDYQIG | LPSDIKSVKV | AWQTKEYNLV | RNNV |