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
- Involved in regulation of lens fiber cell differentiation. Human ortholog(s) of this gene implicated in severe congenital neutropenia. 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 | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily |
---|---|---|---|---|---|---|
UniProtKB:A8E7N5
|
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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