FAHD1 Gene Summary [Human]
Enables acetylpyruvate hydrolase activity; fumarylpyruvate hydrolase activity; and oxaloacetate decarboxylase activity. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | FAHD1 |
| Official Name | fumarylacetoacetate hydrolase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14169] |
| Ensembl ID | ENSG00000180185 |
| Bio databases IDs | |
| Aliases | fumarylacetoacetate hydrolase domain containing 1, acylpyruvate hydrolase |
| Synonyms | 1110025H10Rik, ApH, C16ORF36, fumarylacetoacetate hydrolase domain containing 1, ODx, RGD1304560, YISKL |
| 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 FAHD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 4-hydroxyphenylacetate degradation bifunctional isomerase/decarboxylase, C-terminal subunit
- oxaloacetate decarboxylase
- ketonic substance carbon-carbon hydrolase
- Protein of unknown function (DUF2848)
- enzyme
- protein binding
- HpaG-C-term
- acetylpyruvate hydrolase
- oxaloacetate tautomerase
- Fumarylacetoacetate (FAA) hydrolase family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- azoospermia
- premature ovarian failure type 23
- spermatogenic failure 22
regulated by
- tetradecanoylphorbol acetate
- GSKJ4
- magnesium
- genomic DNA
- SMYD1
- acetylpyruvic acid
regulates
- pyruvic acid
- succinate dehydrogenase
- acetylpyruvic acid
- GLS
- oxalacetic acid
- 3-fumarylpyruvate
role in cell
- cell death
- expression in
- proliferation
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
- Mitochondria
- cytosol
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAHD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pyruvate metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- oxaloacetate decarboxylase activity
- metal ion binding
- fumarylpyruvate hydrolase activity
- acylpyruvate hydrolase activity
- acetylpyruvate hydrolase activity