UniProt | Protein Name |
---|---|
P22033 |
|
B2R6K1 |
|
A0A024RD82 |
|
GO Term | Evidence Code | PMID |
---|---|---|
propionate metabolic process, methylmalonyl pathway | ||
positive regulation of GTPase activity | ||
post-embryonic development | ||
homocysteine metabolic process | ||
succinyl-CoA biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
methylmalonyl-CoA mutase activity | ||
protein homodimerization activity | ||
GTPase activity | ||
cobalamin binding | ||
metal ion binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:768 | retinoblastoma | |
DOID:0014667 | disease of metabolism | |
DOID:0040085 | bacterial sepsis | |
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050590 | severe congenital neutropenia | |
DOID:0050700 | cardiomyopathy | |
DOID:0050818 | transcobalamin II deficiency | |
DOID:0050819 | obsolete Matthew-Wood syndrome | |
DOID:0050841 | focal hand dystonia | |
DOID:0050902 | medulloblastoma |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000124 | Renal tubular dysfunction |
HP:0000648 | Optic atrophy |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001259 | Coma |
HP:0001260 | Dysarthria |
Disease ID | Disease Name |
---|---|
ORPHA:79312 |
|
ORPHA:289916 |
|
OMIM:251000 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108718282 | Xenbase:XB-GENE-6486923 | ||
101950188 | CHRPI27980 | ||
109311486 | CROPO09201 | ||
113440974 | PSETE12795 | ||
100549048 | MELGA06523 | ||
103821161 | SERCA02960 | ||
100079946 | ORNAN27536 | ||
100922918 | SARHA13641 | ||
103113725 | ERIEU04417 | ||
100388313 | CALJA31750 |
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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