Gene
asph
- ID
- ZDB-GENE-031112-5
- Name
- aspartate beta-hydroxylase
- Symbol
- asph Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable peptidyl-aspartic acid 3-dioxygenase activity. Predicted to be involved in regulation of cytosolic calcium ion concentration. Predicted to act upstream of or within peptidyl-aspartic acid hydroxylation. Predicted to be located in endomembrane system and membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including choroidal fissure; epidermis; hatching gland; pectoral fin; and periderm. Human ortholog(s) of this gene implicated in cholangiocarcinoma. Orthologous to human ASPH (aspartate beta-hydroxylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb971 (11 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 |
|---|---|---|---|
| Traboulsi syndrome | 601552 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Aspartyl/asparaginyl beta-hydroxylase family | Aspartyl beta-hydroxylase/Triadin domain |
|---|---|---|---|---|
| UniProtKB:A0A8M2BAJ6 | InterPro | 456 | ||
| UniProtKB:A0A8M9QB34 | InterPro | 264 | ||
| UniProtKB:A0A8M9Q4T6 | InterPro | 279 | ||
| UniProtKB:A0A8M2BAF1 | InterPro | 460 | ||
| UniProtKB:A0A8M2BAT0 | InterPro | 474 | ||
| UniProtKB:A0A8M2BAF4 | InterPro | 475 | ||
| UniProtKB:B0S5J7 | InterPro | 472 | ||
| UniProtKB:A0AB32TW51 | InterPro | 457 |
Interactions and Pathways
No data available
Plasmids
No data available