AHCY
Summary: S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| adenosylhomocysteinase | MIM:180960 | Ensembl:ENSG00000101444 | HGNC:HGNC:343 | PA24636 | 20q11.22 |
GO terms in AHCY
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0000096 | sulfur amino acid metabolic process |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0002439 | chronic inflammatory response to antigenic stimulus |
| BP | IEA | GO:0006730 | one-carbon metabolic process |
| BP | IEA | GO:0007584 | response to nutrient |
| BP | IEA | GO:0019510 | S-adenosylhomocysteine catabolic process |
| BP | TAS | GO:0032259 | methylation |
| BP | IBA | GO:0033353 | S-adenosylmethionine cycle |
| BP | IEA | GO:0042745 | circadian sleep/wake cycle |
| BP | IEA | GO:0071268 | homocysteine biosynthetic process |
| CC | IEA | GO:0005634 | nucleus |
| CC | IBA | GO:0005829 | cytosol |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0042470 | melanosome |
| CC | IEA | GO:0043005 | neuron projection |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IBA | GO:0004013 | adenosylhomocysteinase activity |
| MF | TAS | GO:0004013 | adenosylhomocysteinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0030554 | adenyl nucleotide binding |
| MF | IEA | GO:0042802 | identical protein binding |
| MF | IEA | GO:0051287 | NAD binding |
Gene expression in normal tissue: AHCY
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AHCY
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00029 | Selenoamino Acid Metabolism |
| smpdb | SMP00033 | Methionine Metabolism |
| smpdb | SMP00123 | Betaine Metabolism |
| smpdb | SMP00177 | Cystathionine Beta-Synthase Deficiency |
| smpdb | SMP00214 | S-Adenosylhomocysteine (SAH) Hydrolase Deficiency |
| smpdb | SMP00221 | Methionine Adenosyltransferase Deficiency |
| smpdb | SMP00222 | Glycine N-methyltransferase Deficiency |
| smpdb | SMP00340 | Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) |
| smpdb | SMP00341 | Hypermethioninemia |
| smpdb | SMP00570 | Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type |
| wikipathways | WP176 | Folate Metabolism |
| wikipathways | WP2333 | Trans-sulfuration pathway |
| wikipathways | WP241 | One Carbon Metabolism |
| wikipathways | WP2525 | Trans-sulfuration and one carbon metabolism |
| wikipathways | WP3580 | Methionine De Novo and Salvage Pathway |
| wikipathways | WP3996 | Ethanol effects on histone modifications |
| pharmgkb | PA2040 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics |
| humancyc | METHIONINE-DEG1-PWY | methionine degradation |
| humancyc | PWY-5328 | superpathway of methionine degradation |
| humancyc | PWY-6292 | cysteine biosynthesis |
| netpath | Pathway_TCR | TCR |
| kegg | hsa00270 | Cysteine and methionine metabolism - Homo sapiens (human) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-156580 | Phase II - Conjugation of compounds |
| reactome | R-HSA-156581 | Methylation |
| reactome | R-HSA-1614635 | Sulfur amino acid metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-211859 | Biological oxidations |
| reactome | R-HSA-2408508 | Metabolism of ingested SeMet, Sec, MeSec into H2Se |
| reactome | R-HSA-2408522 | Selenoamino acid metabolism |
| reactome | R-HSA-5578997 | Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) |
| reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AHCY
CLASSFICATION
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