Gene
hpdl
- ID
- ZDB-GENE-071004-50
- Name
- 4-hydroxyphenylpyruvate dioxygenase-like
- Symbol
- hpdl Nomenclature History
- Previous Names
-
- fj39d06
- wu:fj39d06
- zgc:171978 (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable 4-hydroxyphenylpyruvate dioxygenase activity and metal ion binding activity. Predicted to act upstream of or within aromatic amino acid metabolic process. Predicted to be located in Golgi membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 83. Orthologous to human HPDL (4-hydroxyphenylpyruvate dioxygenase like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| hereditary spastic paraplegia 83 | Alliance | Spastic paraplegia 83, autosomal recessive | 619027 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 619026 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004360 | Glyoxalase/fosfomycin resistance/dioxygenase domain |
| Domain | IPR041735 | 4-hydroxyphenylpyruvate dioxygenase, C-terminal |
| Domain | IPR041736 | 4-hydroxyphenylpyruvate dioxygenase, N-terminal |
| Family | IPR005956 | 4-hydroxyphenylpyruvate dioxygenase |
| Homologous_superfamily | IPR029068 | Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase |
Domain Details Per Protein
| Protein | Additional Resources | Length | 4-hydroxyphenylpyruvate dioxygenase | 4-hydroxyphenylpyruvate dioxygenase, C-terminal | 4-hydroxyphenylpyruvate dioxygenase, N-terminal | Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase | Glyoxalase/fosfomycin resistance/dioxygenase domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A7MC29 | InterPro | 420 | |||||
| UniProtKB:E7FH29 | InterPro | 420 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available