Gene
tasp1
- ID
- ZDB-GENE-070424-242
- Name
- taspase, threonine aspartase, 1
- Symbol
- tasp1 Nomenclature History
- Previous Names
-
- si:dkey-38k3.3
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable threonine-type endopeptidase activity. Acts upstream of or within brain development and cartilage development. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Orthologous to human TASP1 (taspase 1).
- 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
- 1 Figure from Riedhammer et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la027443Tg | Transgenic insertion | Unknown | Unknown | DNA | |
s4006 | Allele with one deletion | Unknown | Unknown | CRISPR | |
sa22345 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Suleiman-El-Hattab syndrome | 618950 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Nucleophile aminohydrolases, N-terminal | Peptidase T2, asparaginase 2 | Threonine aspartase 1 |
---|---|---|---|---|---|
UniProtKB:A0A2R8QBP8 | InterPro | 409 | |||
UniProtKB:A5PMQ0 | InterPro | 422 | |||
UniProtKB:A0A8M2B3S9 | InterPro | 343 |
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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 | CH211-153M11 | ZFIN Curated Data | |
Contained in | BAC | DKEY-38K3 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001100953 (1) | 1230 nt | ||
Genomic | GenBank:BX908384 | 213699 nt | ||
Polypeptide | UniProtKB:A5PMQ0 (1) | 422 aa |
- Riedhammer, K.M., Burgemeister, A.L., Cantagrel, V., Amiel, J., Siquier, K., Boddaert, N., Hertecant, J., Kannouche, P.L., Pouvelle, C., Htun, S., Slavotinek, A.M., Beetz, C., Diego-Alvarez, D., Kampe, K., Fleischer, N., Awamleh, Z., Weksberg, R., Kopajtich, R., Meitinger, T., Suleiman, J., El-Hattab, A.W. (2022) Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human molecular genetics. 31(18):3083-3094
- 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
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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