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:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
DOID:0060762 | restrictive dermopathy | |
DOID:0060764 | autosomal recessive Robinow syndrome | |
DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
DOID:0060767 | autosomal dominant Robinow syndrome 3 | |
DOID:0060862 | mal de Meleda | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070130 | autosomal dominant cutis laxa 1 |
HPO ID | HPO Term |
---|---|
HP:0002652 | Skeletal dysplasia |
HP:0002673 | Coxa valga |
HP:0002751 | Kyphoscoliosis |
HP:0002757 | Recurrent fractures |
HP:0002816 | Genu recurvatum |
HP:0002974 | Radioulnar synostosis |
HP:0003015 | Flared metaphysis |
HP:0003083 | Dislocated radial head |
HP:0003202 | Skeletal muscle atrophy |
HP:0004322 | Short stature |
Disease ID | Disease Name |
---|---|
ORPHA:75496 |
|
OMIM:130070 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100956774 | OTOGA00968 | ||
778009 | TAKRU09559 | ||
102005344 | CHILA02353 | ||
105707138 | AOTNA41325 | ||
110216747 | PHACI12396 | ||
101049094 | SAIBB26238 | ||
101969410 | ICTTR14345 | ||
118319183 | SCOMX05034 | ||
102426437 | MYOLU00424 | ||
117016721 | RHIFE22300 |
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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