Gene
atp6v0cb
- ID
- ZDB-GENE-030131-4127
- Name
- ATPase H+ transporting V0 subunit cb
- Symbol
- atp6v0cb Nomenclature History
- Previous Names
-
- wu:fc74d11
- zgc:111904
- zgc:77708
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Enables voltage-gated calcium channel activity. Predicted to act upstream of or within proton transmembrane transport. Located in presynaptic active zone and synaptic vesicle. Is expressed in head; nervous system; and neural tube. Human ortholog(s) of this gene implicated in early-onset epilepsy 3 and thyroid gland carcinoma. Orthologous to human ATP6V0C (ATPase H+ transporting V0 subunit c).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Chung et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| early-onset epilepsy 3 | Alliance | Epilepsy, early-onset, 3, with or without developmental delay | 620465 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | F/V-ATP synthase subunit C superfamily | V-ATPase proteolipid subunit | V-ATPase proteolipid subunit C, eukaryotic | V-ATPase proteolipid subunit C-like domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q6P041 | InterPro | 153 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6v0cb-201
(1)
|
Ensembl | 1,751 nt |
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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 | CH73-171A6 | ZFIN Curated Data | |
| Encodes | EST | fc74d11 | ||
| Encodes | cDNA | MGC:77708 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:111904 | ZFIN Curated Data | |
| Has Artifact | cDNA | MGC:56118 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_205554 (1) | 1775 nt | ||
| Genomic | GenBank:CU929145 (1) | 90957 nt | ||
| Polypeptide | UniProtKB:Q6P041 (1) | 153 aa |
- Ma, X., Yu, S., Zhang, M., Mei, S., Ling, Y., Huang, X., Dong, S., Fan, B., Zhao, J. (2024) PIKFYVE deficiency induces vacuole-like cataract via perturbing late endosome homeostasis. Biochemical and Biophysical Research Communications. 747:151123151123
- Wu, Y., Liu, W., Li, L., Tai, Z., Gao, B., Liu, J.X. (2023) Atp7b deficiency induces zebrafish eye developmental defects. Metallomics : integrated biometal science. 15(5):
- Chen, M., Luo, Y., Xu, J., Chang, M.X., Liu, J.X. (2019) Copper Regulates the Susceptibility of Zebrafish Larvae to Inflammatory Stimuli by Controlling Neutrophil/Macrophage Survival. Frontiers in immunology. 10:2599
- 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
- Song, B., Zhang, Q., Zhang, Z., Wan, Y., Jia, Q., Wang, X., Zhu, X., Leung, A.Y., Cheng, T., Fang, X., Yuan, W., Jia, H. (2014) Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency. BMC Genomics. 15:759
- Ramos-Balderas, J.L., Carrillo-Rosas, S., Guzman, A., Navarro, R.E., and Maldonado, E. (2013) The zebrafish mutants for the V-ATPase subunits d, ac45, E, H and c and their variable pigment dilution phenotype. BMC research notes. 6:39
- Chung, A.Y., Kim, M.J., Kim, D., Bang, S., Hwang, S.W., Lim, C.S., Lee, S., Park, H.C., and Huh, T.L. (2010) Neuron-specific expression of atp6v0c2 in zebrafish CNS. Developmental Dynamics : an official publication of the American Association of Anatomists. 239(9):2501-2508
- Braasch, I., Brunet, F., Volff, J.N., and Schartl, M. (2009) Pigmentation pathway evolution after whole-genome duplication in fish. Genome biology and evolution. 1:479-493
- Hwang, J., Kim, H.S., Seok, J.W., Kim, J.D., Koun, S., Park, S.Y., Lee, J., Kim, H.S., Kim, H.S., Kim, K.S., Chang, K.T., Ryoo, Z.Y., Wang, S.M., Huh, T.L., and Lee, S. (2009) Transcriptome analysis of the zebrafish mind bomb mutant. Molecular genetics and genomics : MGG. 281(1):77-85
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