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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aminomethyltransferase
Summary
- Gene Symbol
-
- AMT
- Aliases
-
- GCST
- NKH
- glycine cleavage system protein T
- nonketotic hyperglycinemia
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Aminotransferase
- Disease variant
- Mitochondrion
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P48728 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycine decarboxylation via glycine cleavage system | ||
| glycine catabolic process |
|
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
catabolic process [inference]
cellular metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial matrix |
|
|
| mitochondrion | ||
| nucleoplasm |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| transaminase activity | ||
| aminomethyltransferase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I | |
| DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
| DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
| DOID:0060732 | chromosome 9p deletion syndrome | |
| DOID:0060764 | autosomal recessive Robinow syndrome | |
| DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
| DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
| DOID:0060767 | autosomal dominant Robinow syndrome 3 | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080440 | developmental and epileptic encephalopathy 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001250 | Seizure |
| HP:0002878 | Respiratory failure |
| HP:0003623 | Neonatal onset |
| HP:0008288 | Nonketotic hyperglycinemia |
| HP:0010851 | EEG with burst suppression |
| HP:0010864 | Intellectual disability, severe |
| HP:0011342 | Mild global developmental delay |
| HP:0011463 | Childhood onset |
| Disease ID | Disease Name |
|---|---|
| OMIM:620398 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 105573692 | CERAT32359 | ||
| 706515 | MACMU29627 | ||
| 105480442 | MACNE07016 | ||
| 101022041 | PAPAN23942 | ||
| 105540347 | MANLE07277 | ||
| 100988475 | PANPA27863 | ||
| 461012 | PANTR31139 | ||
| 100437477 | PONAB25962 | ||
| 484770 | CANLF07506 | ||
| 112911477 | VULVU03936 |
