UniProt | Protein Name |
---|---|
Q9UBV7 |
|
B3KMT1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosaminoglycan biosynthetic process | ||
negative regulation of fibroblast proliferation | ||
protein modification process | ||
glycosylation | ||
proteoglycan 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:0060580 | Noonan syndrome 2 | |
DOID:0060581 | Noonan syndrome 3 | |
DOID:0060582 | Noonan syndrome 4 | |
DOID:0060583 | Noonan syndrome 5 | |
DOID:0060584 | Noonan syndrome 6 | |
DOID:0060585 | Noonan syndrome 7 | |
DOID:0060586 | Noonan syndrome 8 | |
DOID:0060587 | Noonan syndrome 9 | |
DOID:0060588 | Noonan syndrome 10 | |
DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000160 | Narrow mouth |
HP:0000175 | Cleft palate |
HP:0000193 | Bifid uvula |
HP:0000230 | Gingivitis |
HP:0000256 | Macrocephaly |
HP:0000274 | Small face |
HP:0000286 | Epicanthus |
HP:0000316 | Hypertelorism |
Disease ID | Disease Name |
---|---|
ORPHA:75496 |
|
OMIM:130070 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100769652 | CRIGR04287 | ||
218271 | MGI:2384987 | MOUSE11628 | |
364675 | RGD:1309214 | RATNO12090 | |
101569207 | OCTDE09939 | ||
101881020 | MELUD16343 | ||
100027902 | MONDO04144 | ||
100556890 | ANOCA03396 | ||
114046760 | VOMUR20007 | ||
113895521 | BOBOX25615 | ||
105883862 | MICMU02679 |
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