AHCY Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | AHCY |
| Official Name | adenosylhomocysteinase [Source:HGNC Symbol;Acc:HGNC:343] |
| Ensembl ID | ENSG00000101444 |
| Bio databases IDs | |
| Aliases | adenosylhomocysteinase |
| Synonyms | adenosylhomocysteinase, adoHcyase, CuBP, S-Adenosylhomocysteine Hydrolase, SAHH, SAH HYDROLASE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AHCY often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- copper ion binding
- NAD or NADH binding
- S-adenosyl-L-homocysteine hydrolase, NAD binding domain
- S-adenosyl-L-homocysteine hydrolase
- adenosylhomocysteinase
- adenyl nucleotide binding
- trialkylsulfonium hydrolase
- enzyme
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the AHCY gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
- hereditary disorder
- major depression
- colon cancer
- glioma formation
- organismal death
- rhabdomyolysis
- glioblastoma cancer
- glioma cancer
role in cell
- generation in
- expression in
- proliferation
- migration
- response
- growth
- cell proliferation
- colony formation by
- binding in
- upregulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AHCY gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- S-adenosylmethionine cycle
- one-carbon metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- melanosome
- cytosol
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- adenosylhomocysteinase activity