UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
skeletal system development | ||
sensory perception of sound | ||
phospholipid biosynthetic process | ||
positive regulation of transcription by RNA polymerase II | ||
maintenance of location in cell |
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:0060193 | amyotrophic lateral sclerosis type 1 | |
DOID:0060194 | amyotrophic lateral sclerosis type 2 | |
DOID:0060196 | amyotrophic lateral sclerosis type 4 | |
DOID:0060490 | Schimke immuno-osseous dysplasia | |
DOID:0111064 | autosomal recessive distal hereditary motor neuronopathy 1 | |
DOID:0111154 | postural orthostatic tachycardia syndrome | |
DOID:11120 | psychologic dyspareunia | |
DOID:11155 | hypohidrosis | |
DOID:11156 | anhidrosis | |
DOID:11771 | spontaneous ocular nystagmus |
HPO ID | HPO Term |
---|---|
HP:0001653 | Mitral regurgitation |
HP:0001761 | Pes cavus |
HP:0002014 | Diarrhea |
HP:0002015 | Dysphagia |
HP:0002019 | Constipation |
HP:0002028 | Chronic diarrhea |
HP:0002059 | Cerebral atrophy |
HP:0002066 | Gait ataxia |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002071 | Abnormality of extrapyramidal motor function |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113444992 | PSETE01973 | ||
100082841 | ORNAN12081 | ||
100407865 | CALJA26095 | ||
105599209 | CERAT07131 | ||
102118610 | MACFA35738 | ||
704464 | MACMU38141 | ||
105475139 | MACNE15705 | ||
101001296 | PAPAN31247 | ||
100993177 | PANPA31762 | ||
461807 | PANTR35318 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024