Gene
vwa8
- ID
- ZDB-GENE-070912-407
- Name
- von Willebrand factor A domain containing 8
- Symbol
- vwa8 Nomenclature History
- Previous Names
-
- si:dkey-18l1.1
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable ATP hydrolysis activity. Acts upstream of or within notochord development. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Orthologous to human VWA8 (von Willebrand factor A domain containing 8).
- 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
- 5 figures from Umair et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la010312Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la029545Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa2515 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16132 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa30915 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa34601 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41388 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-vwa8 | N/A | Umair et al., 2021 |
| MO2-vwa8 | N/A | Umair et al., 2021 |
| MO3-vwa8 | N/A | Kong et al., 2023 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 97 | Alliance | ?Retinitis pigmentosa 97 | 620422 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002035 | von Willebrand factor, type A |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR011704 | ATPase, dynein-related, AAA domain |
| Family | IPR039891 | von Willebrand factor A domain-containing protein 8 |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | ATPase, dynein-related, AAA domain | P-loop containing nucleoside triphosphate hydrolase | von Willebrand factor A domain-containing protein 8 | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:B0R0T1 | InterPro | 1896 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-93A19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-18L1 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128338 (1) | |||
| Genomic | GenBank:CR388221 (1) | 231980 nt | ||
| Polypeptide | UniProtKB:B0R0T1 (3) | 1896 aa |
- Kong, L., Chu, G., Ma, W., Liang, J., Liu, D., Liu, Q., Wei, X., Jia, S., Gu, H., He, Y., Luo, W., Cao, S., Zhou, X., He, R., Yuan, Z. (2023) Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. Journal of Medical Genetics. 60(10):939-950
- Umair, M., Farooq Khan, M., Aldrees, M., Nashabat, M., Alhamoudi, K.M., Bilal, M., Alyafee, Y., Al Tuwaijri, A., Aldarwish, M., Al-Rumayyan, A., Alkhalaf, H., Wadaan, M.A.M., Alfadhel, M. (2021) Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish. Frontiers in cell and developmental biology. 9:736960
- 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
- 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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