Gene
atp6v1h
- ID
- ZDB-GENE-021219-2
- Name
- ATPase H+ transporting V1 subunit H
- Symbol
- atp6v1h Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in eye pigmentation and positive regulation of neural retina development. Acts upstream of or within several processes, including bone development; bone mineralization; and retina development in camera-type eye. Predicted to be part of vacuolar proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including digestive system; gonad; integument; nervous system; and trigeminal placode. Used to study osteoporosis. Orthologous to human ATP6V1H (ATPase H+ transporting V1 subunit H).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73125 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 18 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi923Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| la439 | Allele with one insertion | Exon 4 | Premature Stop | CRISPR | |
| la014897Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa12036 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25830 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 5 of 5
Show
Human Disease
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| osteoporosis | atp6v1hla439/la439 | standard conditions | Zhang et al., 2017 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR011987 | ATPase, V1 complex, subunit H, C-terminal |
| Family | IPR004908 | ATPase, V1 complex, subunit H |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR038497 | ATPase, V1 complex, subunit H, C-terminal domain superfamily |
1 - 5 of 5
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | ATPase, V1 complex, subunit H | ATPase, V1 complex, subunit H, C-terminal | ATPase, V1 complex, subunit H, C-terminal domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6PC35
|
463 | |||||
|
UniProtKB:B0R0V8
|
481 |
1 - 2 of 2
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
atp6v1h-202
(1)
|
Ensembl | 564 nt | ||
| mRNA |
atp6v1h-201
(1)
|
Ensembl | 1,755 nt | ||
| mRNA |
atp6v1h-204
(1)
|
Ensembl | 1,496 nt | ||
| mRNA |
atp6v1h-205
(1)
|
Ensembl | 1,851 nt | ||
| ncRNA |
atp6v1h-003
(1)
|
Ensembl | 717 nt |
1 - 5 of 5
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-278C13 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-216E9 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:73125 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:86772 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001291708 (1) | 1839 nt | ||
| Genomic | GenBank:AL929096 (1) | 192592 nt | ||
| Polypeptide | UniProtKB:B0R0V8 (1) | 481 aa |
- Hinman, M.N., Richardson, J.I., Sockol, R.A., Aronson, E.D., Stednitz, S.J., Murray, K.N., Berglund, J.A., Guillemin, K. (2021) Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy. Disease models & mechanisms. 14(6):
- Santra, P., Amack, J.D. (2021) Loss of vacuolar-type H+-ATPase induces caspase-independent necrosis-like death of hair cells in zebrafish neuromasts. Disease models & mechanisms. 14(7):
- Jia, S., Wu, X., Wu, Y., Cui, X., Tao, B., Zhu, Z., Hu, W. (2020) Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome. International journal of biological sciences. 16:3039-3049
- Levic, D.S., Ryan, S., Marjoram, L., Honeycutt, J., Bagwell, J., Bagnat, M. (2020) Distinct roles for luminal acidification in apical protein sorting and trafficking in zebrafish. The Journal of cell biology. 219(4):
- Wu, N., Liu, B., Du, H., Zhao, S., Li, Y., Cheng, X., Wang, S., Lin, J., Zhou, J., Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Qiu, G., Wu, Z., Zhang, J. (2019) The Progress of CRISPR/Cas9-Mediated Gene Editing in Generating Mouse/Zebrafish Models of Human Skeletal Diseases. Computational and structural biotechnology journal. 17:954-962
- Zhao, W., Zhang, Y., Yang, S., Hao, Y., Wang, Z., Duan, X. (2018) Analysis of two transcript isoforms of vacuolar ATPase subunit H in mouse and zebrafish. Gene. 638:66-75
- 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
- Zhang, Y., Huang, H., Zhao, G., Yokoyama, T., Vega, H., Huang, Y., Sood, R., Bishop, K., Maduro, V., Accardi, J., Toro, C., Boerkoel, C.F., Lyons, K., Gahl, W.A., Duan, X., Malicdan, M.C., Lin, S. (2017) ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. PLoS Genetics. 13:e1006481
- 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
- Lin, C., Lin, C.N., Wang, Y.C., Liu, F.Y., Chien, Y.W., Chuang, Y.J., Lan, C.Y., Hsieh, W.P., Chen, B.S. (2014) Robustness analysis on interspecies interaction network for iron and glucose competition between Candida albicans and zebrafish during infection. BMC systems biology. 8 Suppl 5:S6
1 - 10 of 20
Show