UniProt | Protein Name |
---|---|
Q9UBV7 |
|
B3KMT1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein N-linked glycosylation | ||
proteoglycan biosynthetic process | ||
carbohydrate metabolic process | ||
supramolecular fiber organization | ||
glycosaminoglycan metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
membrane | ||
Golgi apparatus | ||
Golgi cisterna membrane | ||
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity | ||
manganese ion binding | ||
galactosyltransferase activity | ||
protein binding | ||
xylosylprotein 4-beta-galactosyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | XP_344570 | XM_344570 |
Drosophila melanogaster | NP_651319 | NM_143062 |
Caenorhabditis elegans | NP_499164 | NM_066763 |
Mus musculus | NP_666157 | NM_146045 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0111414 | trichohepatoenteric syndrome | |
DOID:0111415 | trichohepatoenteric syndrome 1 | |
DOID:11175 | enophthalmos | |
DOID:11383 | cryptorchidism | |
DOID:11712 | lipoatrophic diabetes mellitus | |
DOID:11725 | Cornelia de Lange syndrome | |
DOID:11836 | clubfoot | |
DOID:11983 | Prader-Willi syndrome | |
DOID:11996 | spermatic cord torsion | |
DOID:1222 | cartilage disease |
HPO ID | HPO Term |
---|---|
HP:0001075 | Atrophic scars |
HP:0001166 | Arachnodactyly |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001290 | Generalized hypotonia |
HP:0001363 | Craniosynostosis |
HP:0001371 | Flexion contracture |
HP:0001373 | Joint dislocation |
HP:0001382 | Joint hypermobility |
Disease ID | Disease Name |
---|---|
ORPHA:75496 |
|
OMIM:130070 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115205710 | SALTR111258 | ||
115552531 | GADMO01209 | ||
100693702 | ORENI46115 | ||
115569228 | SPAAU63322 | ||
495369 | Xenbase:XB-GENE-973276 | ||
108710989 | Xenbase:XB-GENE-17339163 | ||
100144979 | Xenbase:XB-GENE-973272 | ||
101942960 | CHRPI22456 | ||
109309887 | CROPO17728 | ||
100088745 | ORNAN30434 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024