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 |
---|---|---|---|
175503 | WB:WBGene00014202 | ||
103184982 | CALMI31121 | ||
102348247 | LATCH10053 | ||
569581 | ZFIN:ZDB-GENE-010430-3 | DANRE19316 | |
103027932 | ASTMX14113 | ||
108258051 | ICTPU20404 | ||
113569416 | ELEEL05950 | ||
115174467 | SALTR52971 | ||
101161936 | ORYLA11366 | ||
115574289 | SPAAU61159 |
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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