ZFIN is now using GRCz12tu for Genomic Data
Gene
hace1
- ID
- ZDB-GENE-110411-52
- Name
- HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
- Symbol
- hace1 Nomenclature History
- Previous Names
-
- si:ch73-97e20.2
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable small GTPase binding activity and ubiquitin protein ligase activity. Acts upstream of or within heart development and negative regulation of reactive oxygen species biosynthetic process. Predicted to be located in Golgi cisterna membrane and endoplasmic reticulum. Predicted to be active in Golgi membrane and nucleus. Is expressed in brain; heart; and pronephros. Orthologous to human HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Daugaard et al., 2013
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Razaghi et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Spastic paraplegia and psychomotor retardation with or without seizures | 616756 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | E3 ubiquitin-protein ligase | HECT domain | HECT, E3 ligase catalytic domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:F8W2M1 | InterPro | 904 | |||||
| UniProtKB:K7DY07 | InterPro | 905 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
- Genome Browsers