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adenosylhomocysteinase
Summary
- Gene Symbol
-
- AHCY
- Aliases
-
- AdoHcyase
- SAHH
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Copper
- Cytoplasm
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- Hydrolase
- Hydroxylation
- NAD
- Nucleus
- One-carbon metabolism
- Phosphoprotein
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A384MTQ3 |
|
| P23526 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| one-carbon metabolic process | ||
| S-adenosylmethionine cycle |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| adenosylhomocysteinase activity | ||
| adenosylhomocysteinase activity | ||
| adenosylhomocysteinase activity | ||
| protein binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Adenosylhomocysteinase A
- Functional Category
-
- E: Amino acid transport and metabolism
- H: Coenzyme transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
| Gene Ontology |
|---|
| S-adenosylmethionine cycle |
| adenosylhomocysteinase activity |
| hydrolase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111039 | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | |
| DOID:7693 | abdominal aortic aneurysm |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000164 | Abnormality of the dentition |
| HP:0000252 | Microcephaly |
| HP:0000486 | Strabismus |
| HP:0000565 | Esotropia |
| HP:0000708 | Atypical behavior |
| HP:0000736 | Short attention span |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| Disease ID | Disease Name |
|---|---|
| ORPHA:88618 |
|
| OMIM:613752 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 191 | Xenbase:XB-GENE-950017 | ||
| 11615 | Xenbase:XB-GENE-950017 | MOUSE17870 | |
| 29443 | RATNO28492 | ||
| 269378 | Xenbase:XB-GENE-950017 | MOUSE17870 | |
| 387530 | DANRE39140 | ||
| 458190 | PANTR24679 | ||
| 477198 | CANLF09470 | ||
| 508158 | BOVIN05127 | ||
| 698344 | MACMU02169 | ||
| 708183 | MACMU02169 |
