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
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hsi5 | Allele with one delins | Unknown | Unknown | CRISPR | |
| sa13490 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16955 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22738 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36019 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-hace1 | Prykhozhij et al., 2017 | |
| MO1-hace1 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Spastic paraplegia and psychomotor retardation with or without seizures | 616756 |
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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 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-97E20 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001423976 (1) | |||
| Genomic | GenBank:CU928063 (1) | 125593 nt | ||
| Polypeptide | UniProtKB:K7DY07 (1) | 905 aa |
- Prykhozhij, S.V., Steele, S.L., Razaghi, B., Berman, J.N. (2017) A rapid and effective method for screening, sequencing and reporter verification of engineered frameshift mutations in zebrafish. Disease models & mechanisms. 10(6):811-822
- Razaghi, B., Steele, S.L., Prykhozhij, S.V., Stoyek, M.R., Hill, J.A., Cooper, M.D., McDonald, L., Lin, W., Daugaard, M., Crapoulet, N., Chacko, S., Lewis, S., Scott, I.C., Sorensen, P.H.B., Berman, J.N. (2017) hace1 influences zebrafish cardiac development via ROS-dependent mechanisms. Developmental Dynamics : an official publication of the American Association of Anatomists. 247(2):289-303
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Daugaard, M., Nitsch, R., Razaghi, B., McDonald, L., Jarrar, A., Torrino, S., Castillo-Lluva, S., Rotblat, B., Li, L., Malliri, A., Lemichez, E., Mettouchi, A., Berman, J.N., Penninger, J.M., and Sorensen, P.H. (2013) Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH oxidase complexes. Nature communications. 4:2180
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