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:0050429 | Hailey-Hailey disease | |
DOID:0050569 | Seckel syndrome | |
DOID:0050802 | Ehlers-Danlos syndrome spondylodysplastic type 2 | |
DOID:0060180 | colitis | |
DOID:0060189 | ileitis | |
DOID:0060190 | ileocolitis | |
DOID:0060249 | scoliosis | |
DOID:0060254 | Robinow syndrome | |
DOID:0060467 | humeroradial synostosis | |
DOID:0060578 | Noonan syndrome 1 |
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 |
---|---|---|---|
176382 | WB:WBGene00005021 | ||
42991 | FB:FBgn0039258 | ||
103189468 | CALMI41556 | ||
102365042 | LATCH00285 | ||
445022 | ZFIN:ZDB-GENE-040727-3 | DANRE06539 | |
100528903 | ICTPU34086 | ||
113573384 | ELEEL13238 | ||
106612238 | SALSA45457 | ||
115167312 | SALTR42767 | ||
115205710 | SALTR111258 |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024