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
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Traboulsi syndrome | 601552 |
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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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-181M9 | ZFIN Curated Data | |
| Contains | SNP | rs3727632 | ZFIN Curated Data | |
| Contains | SNP | rs3727633 | ZFIN Curated Data | |
| Encodes | EST | cb971 | Thisse et al., 2001 | |
| Encodes | EST | fb69e10 | ||
| Encodes | EST | fc06d04 | ||
| Encodes | EST | fc95a08 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001256603 (1) | 3637 nt | ||
| Genomic | GenBank:BX248497 (1) | 145610 nt | ||
| Polypeptide | UniProtKB:A0A8M2BAF4 (1) | 475 aa |
- Endo, Y., Groom, L., Celik, A., Kraeva, N., Lee, C.S., Jung, S.Y., Gardner, L., Shaw, M.A., Hamilton, S.L., Hopkins, P.M., Dirksen, R.T., Riazi, S., Dowling, J.J. (2022) Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. Nature communications. 13:3403
- Smith, L., Fabian, L., Al-Maawali, A., Noche, R.R., Dowling, J.J. (2020) De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis. PLoS One. 15:e0231364
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- Armas, P., Margarit, E., Mouguelar, V.S., Allende, M.L., and Calcaterra, N.B. (2013) Beyond the Binding Site: In Vivo Identification of tbx2, smarca5 and wnt5b as Molecular Targets of CNBP during Embryonic Development. PLoS One. 8(5):e63234
- Kinoshita, S., Katsumi, E., Yamamoto, H., Takeuchi, K., and Watabe, S. (2011) Molecular and Functional Analyses of Aspolin, a Fish-Specific Protein Extremely Rich in Aspartic Acid. Marine biotechnology (New York, N.Y.). 13(3):517-526
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