UniProt | Protein Name |
---|---|
A0A068F658 |
|
P04062 |
|
B7Z6S9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proteasome-mediated ubiquitin-dependent protein catabolic process | ||
microglia differentiation | ||
response to estrogen | ||
positive regulation of proteasomal ubiquitin-dependent protein catabolic process | ||
pyramidal neuron differentiation |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
trans-Golgi network | ||
lysosomal membrane | ||
Golgi apparatus | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
glucosylceramidase activity | ||
steryl-beta-glucosidase activity | ||
glucosyltransferase activity | ||
scavenger receptor binding | ||
galactosylceramidase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070114 | Niemann-Pick disease type C2 | |
DOID:0070161 | hereditary sensory and autonomic neuropathy type 2 | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0080855 | Parkinsonism | |
DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
DOID:0090111 | PCWH syndrome | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 | |
DOID:0110039 | Alzheimer's disease 7 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000012 | Urinary urgency |
HP:0000027 | Azoospermia |
HP:0000093 | Proteinuria |
HP:0000160 | Narrow mouth |
HP:0000194 | Open mouth |
HP:0000211 | Trismus |
HP:0000218 | High palate |
HP:0000225 | Gingival bleeding |
Disease ID | Disease Name |
---|---|
OMIM:230800 |
|
ORPHA:77261 |
|
OMIM:231000 |
|
ORPHA:77259 |
|
OMIM:231005 |
|
OMIM:230900 |
|
ORPHA:2072 |
|
OMIM:608013 |
|
ORPHA:77260 |
|
OMIM:127750 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113453028 | PSETE26837 | ||
113453029 | PSETE26837 | ||
103823954 | SERCA20862 | ||
114808166 | ORNAN32261 | ||
100919688 | SARHA03606 | ||
100399524 | CALJA16718 | ||
100894943 | CALJA16718 | ||
102121809 | MACFA21020 | ||
719103 | MACMU22207 | ||
105544841 | MANLE31719 |
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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