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: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:0000768 | Pectus carinatum |
HP:0000774 | Narrow chest |
HP:0000894 | Short clavicles |
HP:0000938 | Osteopenia |
HP:0000954 | Single transverse palmar crease |
HP:0000963 | Thin skin |
HP:0000973 | Cutis laxa |
HP:0000974 | Hyperextensible skin |
HP:0000987 | Atypical scarring of skin |
HP:0001000 | Abnormality of skin pigmentation |
Disease ID | Disease Name |
---|---|
ORPHA:75496 |
|
OMIM:130070 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105818608 | PROCO28519 | ||
109095982 | CYPCA89812 | ||
103732252 | NANGA26559 | ||
116451405 | CORMO03906 | ||
115616080 | STRHB13070 |
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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