UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
skeletal system development | ||
N-glycan processing | ||
ganglioside catabolic process | ||
ganglioside catabolic process | ||
intracellular calcium ion homeostasis |
GO Term | Evidence Code | PMID |
---|---|---|
azurophil granule lumen | ||
azurophil granule | ||
lysosomal lumen | ||
lysosomal lumen | ||
cortical granule |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylhexosaminidase activity | ||
beta-N-acetylhexosaminidase activity | ||
beta-N-acetylhexosaminidase activity | ||
protein binding | ||
acetylglucosaminyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:12377 | spinal muscular atrophy | |
DOID:3323 | Sandhoff disease |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000020 | Urinary incontinence |
HP:0000158 | Macroglossia |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000618 | Blindness |
HP:0000729 | Autistic behavior |
HP:0000739 | Anxiety |
HP:0000802 | Impotence |
HP:0000966 | Hypohidrosis |
Disease ID | Disease Name |
---|---|
ORPHA:309169 |
|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
3073 | FB:FBgn0045063 | ||
3074 | Xenbase:XB-GENE-1002397 | ||
15211 | FB:FBgn0045063 | ||
15212 | Xenbase:XB-GENE-1002397 | MOUSE09988 | |
31808 | Xenbase:XB-GENE-1002397 | ||
38528 | Xenbase:XB-GENE-1002397 | ||
180533 | Xenbase:XB-GENE-1002397 | ||
250735 | Xenbase:XB-GENE-1002397 | ||
294673 | Xenbase:XB-GENE-1002397 | RATNO24946 | |
300757 | FB:FBgn0045063 |
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: April 7, 2025