beta 3-glucosyltransferase
| UniProt | Protein Name |
|---|---|
| Q6Y288 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development | ||
| fucose metabolic process | ||
| brain development | ||
| protein secretion | ||
| gene expression |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetylglucosaminyltransferase activity | ||
| glycosyltransferase activity |
| Donor | Acceptor | Reducing terminal(Acceptor) | Product | Reducing terminal(Product) | Reference |
|---|---|---|---|---|---|
| UDP-Glc |
|
[beta]-pNp |
|
[beta]-pNp | |
| UDP-Glc |
|
[beta]-pNp |
|
[beta]-pNp | |
| UDP-Glc |
|
rat F-spondin TSR4 |
|
rat F-spondin TSR4 | |
| UDP-Glc |
|
[alpha]-pNp |
|
[alpha]-pNp |
| Species | Protein | mRNA |
|---|---|---|
| Mus musculus | NP_001074673 | NM_001081204 |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080201 | Peters plus syndrome |
| HPO ID | HPO Term |
|---|---|
| HP:0000089 | Renal hypoplasia |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000175 | Cleft palate |
| HP:0000200 | Short lingual frenulum |
| HP:0000204 | Cleft upper lip |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000233 | Thin vermilion border |
| HP:0000238 | Hydrocephalus |
| HP:0000248 | Brachycephaly |
| Disease ID | Disease Name |
|---|---|
| OMIM:261540 |
|
| ORPHA:709 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 6, 2026