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:0004425 | Flat forehead |
HP:0005328 | Progeroid facial appearance |
HP:0005616 | Accelerated skeletal maturation |
HP:0006243 | Phalangeal dislocation |
HP:0006481 | Abnormality of primary teeth |
HP:0006487 | Bowing of the long bones |
HP:0007469 | Palmoplantar cutis gyrata |
HP:0009125 | Lipodystrophy |
HP:0010511 | Long toe |
HP:0011308 | Slender toe |
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