UniProt | Protein Name |
---|---|
A0A068F658 |
|
P04062 |
|
B7Z6S9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glucosylceramide catabolic process | ||
response to testosterone | ||
negative regulation of MAP kinase activity | ||
cell maturation | ||
sphingosine biosynthetic process |
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:0060798 | hypomyelinating leukodystrophy 6 | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
DOID:0060868 | leukoencephalopathy with vanishing white matter | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060892 | late onset Parkinson's disease | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0070111 | Niemann-Pick disease type A | |
DOID:0070112 | Niemann-Pick disease type B | |
DOID:0070113 | Niemann-Pick disease type C1 |
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 |
---|---|---|---|
115177217 | SALTR84530 | ||
115553577 | GADMO04404 | ||
101157882 | ORYLA05759 | ||
100707102 | ORENI07143 | ||
102294992 | HAPBU19806 | ||
113031576 | ASTCA03787 | ||
115567036 | SPAAU59175 | ||
115567037 | SPAAU59175 | ||
101938323 | CHRPI17145 | ||
109324801 | CROPO26221 |
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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