Gene
cachd1
- ID
- ZDB-GENE-100819-3
- Name
- cache domain containing 1
- Symbol
- cachd1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable voltage-gated calcium channel activity. Acts upstream of or within cartilage morphogenesis. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Orthologous to human CACHD1 (cache domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Scala et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-cachd1 | Scala et al., 2023 | |
| MO1-cachd1 | N/A | Powell et al., 2024 |
| MO2-cachd1 | N/A | Powell et al., 2024 |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Periplasmic sensor-like domain superfamily | Voltage-dependent calcium channel subunit alpha-2/delta | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PYP8 | InterPro | 1143 | ||||
| UniProtKB:E7F5Q0 | InterPro | 1290 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cachd1-201
(1)
|
Ensembl | 3,873 nt | ||
| mRNA |
cachd1-202
(1)
|
Ensembl | 4,693 nt |
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(HSE:cachd1,EGFP) |
|
| 1 | (2) | |
| Tg(neurod1:cachd1-EGFP) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-11H7 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001334793 (1) | 5162 nt | ||
| Genomic | GenBank:BX005054 (1) | 230686 nt | ||
| Polypeptide | UniProtKB:E7F5Q0 (1) | 1290 aa |
- Comparative Orthology
- Alliance
- Powell, G.T., Faro, A., Zhao, Y., Stickney, H., Novellasdemunt, L., Henriques, P., Gestri, G., Redhouse White, E., Ren, J., Lu, W., Young, R.M., Hawkins, T.A., Cavodeassi, F., Schwarz, Q., Dreosti, E., Raible, D.W., Li, V.S.W., Wright, G.J., Jones, E.Y., Wilson, S.W. (2024) Cachd1 interacts with Wnt receptors and regulates neuronal asymmetry in the zebrafish brain. Science (New York, N.Y.). 384:573579573-579
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Scala, M., Khan, K., Beneteau, C., Fox, R.G., von Hardenberg, S., Khan, A., Joubert, M., Fievet, L., Musquer, M., Le Vaillant, C., Holsclaw, J.K., Lim, D., Berking, A.C., Accogli, A., Giacomini, T., Nobili, L., Striano, P., Zara, F., Torella, A., Nigro, V., Cogné, B., Salick, M.R., Kaykas, A., Eggan, K., Capra, V., Bézieau, S., Davis, E.E., Wells, M.F. (2023) Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. Genetics in medicine : official journal of the American College of Medical Genetics. 26(4):101057
- Wang, Y., Han, Y., Xu, P., Ding, S., Li, G., Jin, H., Meng, Y., Meng, A., Jia, S. (2018) prpf4 is essential for cell survival and posterior lateral line primordium migration in zebrafish. Journal of genetics and genomics = Yi chuan xue bao. 45(8):443-453
- 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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