Gene
pld1b
- ID
- ZDB-GENE-070510-3
- Name
- phospholipase D1b
- Symbol
- pld1b Nomenclature History
- Previous Names
-
- si:dkey-83f6.3
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable phospholipase D activity. Predicted to be involved in phospholipid catabolic process; regulation of microvillus assembly; and regulation of vesicle-mediated transport. Predicted to act upstream of or within intracellular signal transduction; lipid catabolic process; and phosphatidic acid biosynthetic process. Predicted to be active in cytoplasmic vesicle and plasma membrane. Human ortholog(s) of this gene implicated in developmental cardiac valvular defect. Orthologous to human PLD1 (phospholipase D1).
- 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 Busch-Nentwich et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa1311 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa6775 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14680 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa37906 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa44158 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental cardiac valvular defect | Alliance | Cardiac valvular dysplasia 1 | 212093 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Phospholipase D, eukaryotic type | Phospholipase D family | Phospholipase D-like domain | Phospholipase D/Transphosphatidylase | Phox homology | Pleckstrin homology domain | PX domain superfamily |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PGG2 | InterPro | 1042 |
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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-83F6 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_021470348 (1) | 4398 nt | ||
Genomic | GenBank:CU406336 (2) | 151564 nt | ||
Polypeptide | UniProtKB:A0A8M9PGG2 (1) | 1042 aa |
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- 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
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
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