Gene
hgd
- ID
- ZDB-GENE-020802-5
- Name
- homogentisate 1,2-dioxygenase
- Symbol
- hgd Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have homogentisate 1,2-dioxygenase activity. Predicted to be involved in L-phenylalanine catabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in alkaptonuria. Is expressed in digestive system; fin; median fin fold; pectoral fin bud; and retina. Orthologous to human HGD (homogentisate 1,2-dioxygenase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6899338 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alkaptonuria | Alliance | Alkaptonuria | 203500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR046451 | Homogentisate 1,2-dioxygenase, C-terminal domain |
| Domain | IPR046452 | Homogentisate 1,2-dioxygenase, N-terminal domain |
| Family | IPR005708 | Homogentisate 1,2-dioxygenase |
| Homologous_superfamily | IPR011051 | RmlC-like cupin domain superfamily |
| Homologous_superfamily | IPR014710 | RmlC-like jelly roll fold |
Domain Details Per Protein
| Protein | Length | Homogentisate 1,2-dioxygenase | Homogentisate 1,2-dioxygenase, C-terminal domain | Homogentisate 1,2-dioxygenase, N-terminal domain | RmlC-like cupin domain superfamily | RmlC-like jelly roll fold |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6P2V4
|
443 |
Interactions and Pathways
No data available
Plasmids
No data available