Gene
vps45
- ID
- ZDB-GENE-060503-526
- Name
- vacuolar protein sorting 45 homolog
- Symbol
- vps45 Nomenclature History
- Previous Names
-
- si:dkey-200h23.3
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Acts upstream of or within regulation of lens fiber cell differentiation. Predicted to be located in membrane. Predicted to be active in Golgi membrane. Human ortholog(s) of this gene implicated in severe congenital neutropenia 5. Orthologous to human VPS45 (vacuolar protein sorting 45 homolog).
- 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
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-vps45 | N/A | Vilboux et al., 2013 |
| MO2-vps45 | N/A | Vilboux et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| severe congenital neutropenia 5 | Alliance | Neutropenia, severe congenital, 5, autosomal recessive | 615285 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A8E7N5 | InterPro | 568 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(cryaa:vps45-GFP) |
|
| 1 | Mochizuki et al., 2018 | |
| Tg(foxe3:vps45-GFP) |
|
| 1 | Mochizuki et al., 2018 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-200H23 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001256656 (1) | |||
| Genomic | GenBank:BX571688 (1) | 181466 nt | ||
| Polypeptide | UniProtKB:A8E7N5 (1) | 568 aa |
- Lefkopoulos, S., Polyzou, A., Derecka, M., Bergo, V., Clapes, T., Cauchy, P., Jerez-Longres, C., Onishi-Seebacher, M., Yin, N., Martagon-Calderón, N.A., Potts, K.S., Klaeylé, L., Liu, F., Bowman, T.V., Jenuwein, T., Mione, M.C., Trompouki, E. (2020) Repetitive Elements Trigger RIG-I-like Receptor Signaling that Regulates the Emergence of Hematopoietic Stem and Progenitor Cells. Immunity. 53:934-951.e9
- Mochizuki, T., Kojima, Y., Nishiwaki, Y., Harakuni, T., Masai, I. (2018) Endocytic trafficking factor VPS45 is essential for spatial regulation of lens fiber differentiation in zebrafish. Development (Cambridge, England). 145(20):
- 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
- Vilboux, T., Lev, A., Malicdan, M.C., Simon, A.J., Järvinen, P., Racek, T., Puchalka, J., Sood, R., Carrington, B., Bishop, K., Mullikin, J., Huizing, M., Garty, B.Z., Eyal, E., Wolach, B., Gavrieli, R., Toren, A., Soudack, M., Atawneh, O.M., Babushkin, T., Schiby, G., Cullinane, A., Avivi, C., Polak-Charcon, S., Barshack, I., Amariglio, N., Rechavi, G., van der Werff ten Bosch, J., Anikster, Y., Klein, C., Gahl, W.A., and Somech, R. (2013) A congenital neutrophil defect syndrome associated with mutations in VPS45. New. Engl. J. Med.. 369(1):54-65
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