xylosyltransferase 1
| UniProt | Protein Name |
|---|---|
| Q86Y38 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosaminoglycan biosynthetic process | ||
| heparan sulfate proteoglycan biosynthetic process | ||
| heparan sulfate proteoglycan biosynthetic process | ||
| heparan sulfate proteoglycan biosynthetic process | ||
| proteoglycan biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi cis cisterna | ||
| Golgi membrane | ||
| Golgi membrane | ||
| extracellular space |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein xylosyltransferase activity | ||
| protein xylosyltransferase activity | ||
| protein xylosyltransferase activity | ||
| metal ion binding |
| Species | Protein | mRNA |
|---|---|---|
| Drosophila melanogaster | NP_647705 | NM_139448 |
| Mus musculus | NP_783576 | NM_175645 |
| Rattus norvegicus | XP_341913 | XM_341912 |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060462 | Desbuquois dysplasia | |
| DOID:2738 | pseudoxanthoma elasticum | |
| DOID:9744 | type 1 diabetes mellitus |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000175 | Cleft palate |
| HP:0000193 | Bifid uvula |
| HP:0000252 | Microcephaly |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000311 | Round face |
| HP:0000343 | Long philtrum |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000463 | Anteverted nares |
| Disease ID | Disease Name |
|---|---|
| OMIM:264800 |
|
| OMIM:615777 |
|
| ORPHA:1425 |
|
| ORPHA:370930 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026