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:0070142 | autosomal dominant cutis laxa | |
DOID:0070256 | congenital disorder of glycosylation type IId | |
DOID:0080001 | bone disease | |
DOID:0080334 | aortic valve disease 2 | |
DOID:0080575 | Larsen-like syndrome B3GAT3 type | |
DOID:0080738 | Ehlers-Danlos syndrome spondylodysplastic type 1 | |
DOID:0111135 | congenital generalized lipodystrophy type 1 | |
DOID:0111136 | congenital generalized lipodystrophy type 2 | |
DOID:0111137 | congenital generalized lipodystrophy type 3 | |
DOID:0111138 | congenital generalized lipodystrophy type 4 |
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 |
---|---|---|---|
103245067 | CHLSB11268 | ||
108544793 | RHIBE20769 | ||
104680468 | RHIRO23534 | ||
114591462 | PODMU15131 | ||
107563605 | SINGR87830 | ||
107598313 | SINGR39003 | ||
106827174 | EQUAS21184 | ||
116833302 | CHEAB22033 | ||
115049942 | ECHNA28803 | ||
115406356 | SALFA00559 |
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