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:0060712 | autosomal recessive congenital ichthyosis 4A | |
DOID:0060714 | autosomal recessive congenital ichthyosis 5 | |
DOID:0060715 | autosomal recessive congenital ichthyosis 6 | |
DOID:0060716 | autosomal recessive congenital ichthyosis 7 | |
DOID:0060717 | autosomal recessive congenital ichthyosis 8 | |
DOID:0060718 | autosomal recessive congenital ichthyosis 9 | |
DOID:0060719 | autosomal recessive congenital ichthyosis 10 | |
DOID:0060787 | hypomyelinating leukodystrophy 2 | |
DOID:0060789 | hypomyelinating leukodystrophy 4 | |
DOID:0060791 | hypomyelinating leukodystrophy 9 |
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 |
---|---|---|---|
177314 | WB:WBGene00021160 | ||
178535 | WB:WBGene00008706 | ||
42796 | FB:FBgn0051148 | ||
318721 | FB:FBgn0051414 | ||
102348099 | LATCH04160 | ||
559072 | ZFIN:ZDB-GENE-100922-270 | ||
108267062 | ICTPU13799 | ||
113570698 | ELEEL07270 | ||
115176398 | SALTR84875 | ||
115177217 | SALTR84530 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024