HAAO Gene Summary [Human]
3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | HAAO |
| Official Name | 3-hydroxyanthranilate 3,4-dioxygenase [Source:HGNC Symbol;Acc:HGNC:4796] |
| Ensembl ID | ENSG00000162882 |
| Bio databases IDs | |
| Aliases | 3-hydroxyanthranilate 3,4-dioxygenase |
| Synonyms | 0610007K21Rik, 0610012J07Rik, 3-HAO, 3-HAOxase, 3-hydroxyanthranilate 3,4-dioxygenase, 3-hydroxyanthranilate 34-dioxygenase, 3-hydroxyanthranilate oxygenase, 3-HYDROXYANTHRANILIC ACID OXYGENASE, h3HAO, HAO, VCRL1 |
| 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 HAAO often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- oxygen binding
- iron ion binding
- enzyme
- protein binding
- Cupin domain
- 3-hydroxyanthranilate 3,4-dioxygenase
- RmlC-like cupin superfamily
Pathways
Biological processes and signaling networks where the HAAO 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
- insulin-dependent diabetes mellitus
- vertebral, cardiac, renal and limb defects syndrome 1
- androgenic alopecia
- sporadic amyotrophic lateral sclerosis
- hypospadia
- diabetic nephropathy
regulates
- NAD+
- quinolinic acid
- 3-hydroxyanthranilic acid
- alpha-amino-omega-carboxymuconic acid semialdehyde
- 2-amino-3-carboxymuconate semialdehyde
role in cell
- homeostasis
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
- mitochondrial membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HAAO gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tryptophan catabolic process
- quinolinate biosynthetic process
- neuron homeostasis
- response to zinc ion
- de novo NAD biosynthetic process from tryptophan
- anthranilate metabolic process
- NAD biosynthetic process
- response to cadmium ion
- quinolinate metabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- ferrous iron binding
- electron carrier activity
- 3-hydroxyanthranilate 3,4-dioxygenase activity