UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dermatan sulfate catabolic process | ||
single fertilization | ||
myelination | ||
intracellular calcium ion homeostasis | ||
hyaluronan catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cortical granule | ||
extracellular region | ||
azurophil granule | ||
membrane | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylhexosaminidase activity | ||
N-acetyl-beta-D-galactosaminidase activity | ||
acetylglucosaminyltransferase activity | ||
protein binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:5076 | mixed glioma | |
DOID:5082 | liver cirrhosis | |
DOID:526 | human immunodeficiency virus infectious disease | |
DOID:557 | kidney disease | |
DOID:5672 | large intestine cancer | |
DOID:5679 | retinal disease | |
DOID:635 | acquired immunodeficiency syndrome | |
DOID:655 | inherited metabolic disorder | |
DOID:713 | HCL-V | |
DOID:7148 | rheumatoid arthritis |
HPO ID | HPO Term |
---|---|
HP:0004373 | Focal dystonia |
HP:0004481 | Progressive macrocephaly |
HP:0007083 | Hyperactive patellar reflex |
HP:0007256 | Abnormal pyramidal sign |
HP:0007272 | Progressive psychomotor deterioration |
HP:0008994 | Proximal muscle weakness in lower limbs |
HP:0009062 | Infantile axial hypotonia |
HP:0010729 | Cherry red spot of the macula |
HP:0010780 | Hyperacusis |
HP:0010829 | Impaired temperature sensation |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100013886 | MONDO17725 | ||
114044690 | VOMUR15792 | ||
113879069 | BOBOX36036 | ||
113879210 | BOBOX36038 | ||
102540175 | VICPA04750 | ||
100963595 | OTOGA15242 | ||
101067014 | TAKRU44520 | ||
105723908 | AOTNA06896 | ||
101960876 | ICTTR04434 | ||
101596572 | JACJA02528 |
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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