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: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 |
---|---|---|---|
176382 | WB:WBGene00005021 | ||
42991 | FB:FBgn0039258 | ||
103189468 | CALMI41556 | ||
102365042 | LATCH00285 | ||
445022 | ZFIN:ZDB-GENE-040727-3 | DANRE06539 | |
100528903 | ICTPU34086 | ||
113573384 | ELEEL13238 | ||
106604202 | SALSA123980 | ||
106612238 | SALSA138755 | ||
115167312 | SALTR42767 |
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