Gene
atp6v0a1a
- ID
- ZDB-GENE-030131-3027
- Name
- ATPase H+ transporting V0 subunit a1a
- Symbol
- atp6v0a1a Nomenclature History
- Previous Names
-
- atp6v0a1
- wu:fc25b09
- zgc:76965
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable ATPase binding activity. Acts upstream of or within autophagosome maturation; neural crest cell migration; and phagolysosome assembly. Predicted to be located in membrane. Predicted to be part of vacuolar proton-transporting V-type ATPase complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 104. Orthologous to human ATP6V0A1 (ATPase H+ transporting V0 subunit a1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Peri et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la015092Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa19970 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19971 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa26028 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33125 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| szy109 | Allele with one deletion | Exon 10 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-atp6v0a1a | Chen et al., 2024 | |
| MO1-atp6v0a1a | N/A | (3) |
| MO2-atp6v0a1a | N/A | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 104 | Alliance | Developmental and epileptic encephalopathy 104 | 619970 |
| Neurodevelopmental disorder with epilepsy and brain atrophy | 619971 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ATPase, V0 complex, subunit 116kDa, eukaryotic | V-type ATPase, V0 complex, 116kDa subunit family |
|---|---|---|---|
|
UniProtKB:A0A8M2BB25
|
840 | ||
|
UniProtKB:Q6NY92
|
834 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6v0a1a-201
(1)
|
Ensembl | 3,556 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-atp6v0a1 | polyclonal | IgG | Rabbit |
|
Santa Cruz Biotechnology, Inc.
|
2 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-222D3 | ZFIN Curated Data | |
| Encodes | EST | fc25b09 | ||
| Encodes | cDNA | MGC:76965 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212672 (1) | 3570 nt | ||
| Genomic | GenBank:BX470185 (1) | 198900 nt | ||
| Polypeptide | UniProtKB:A0A8M2BB25 (1) | 840 aa |
- Chen, Q., Kou, H., Demy, D.L., Liu, W., Li, J., Wen, Z., Herbomel, P., Huang, Z., Zhang, W., Xu, J. (2024) The different roles of V-ATPase a subunits in phagocytosis/endocytosis and autophagy. Autophagy. 20(10):2297-2313
- Villani, A., Benjaminsen, J., Moritz, C., Henke, K., Hartmann, J., Norlin, N., Richter, K., Schieber, N.L., Franke, T., Schwab, Y., Peri, F. (2019) Clearance by Microglia Depends on Packaging of Phagosomes into a Unique Cellular Compartment. Developmental Cell. 49(1):77-88.e7
- 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
- Lambert, M.J., Olsen, K.G., Cooper, C.D. (2014) Gene duplication followed by exon structure divergence substitutes for alternative splicing in zebrafish. Gene. 546(2):271-6
- Tuttle, A.M., Hoffman, T.L., Schilling, T.F. (2014) Rabconnectin-3a regulates vesicle endocytosis and canonical Wnt signaling in zebrafish neural crest migration. PLoS Biology. 12:e1001852
- 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
- Liongue, C., O'Sullivan. L.A., Trengove, M.C., and Ward, A.C. (2012) Evolution of JAK-STAT pathway components: mechanisms and role in immune system development. PLoS One. 7(3):e32777
- Peri, F., and Nüsslein-Volhard, C. (2008) Live Imaging of Neuronal Degradation by Microglia Reveals a Role for v0-ATPase a1 in Phagosomal Fusion In Vivo. Cell. 133(5):916-927
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