Gene
vps50
- ID
- ZDB-GENE-060503-325
- Name
- VPS50 EARP/GARPII complex subunit
- Symbol
- vps50 Nomenclature History
- Previous Names
-
- ccdc132
- si:ch211-128d6.1
- si:ch211-287b5.1
- si:ch211-77k19.1
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable SNARE binding activity. Predicted to be involved in endocytic recycling. Predicted to act upstream of or within protein transport and retrograde transport, endosome to Golgi. Predicted to be part of EARP complex. Is expressed in head and heart. Orthologous to human VPS50 (VPS50 subunit of EARP/GARPII complex).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Shi et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Shi et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa3030 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa10581 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23579 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa29252 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32255 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa43334 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | 619685 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Syndetin | Syndetin, C-terminal | Vacuolar protein sorting-associated protein 54, N-terminal |
|---|---|---|---|---|---|
| UniProtKB:A0A8M9PD69 | InterPro | 285 | |||
| UniProtKB:F1R0A4 | InterPro | 965 | |||
| UniProtKB:A0A8M6YUM6 | InterPro | 989 | |||
| UniProtKB:A0A8M9Q2Y4 | InterPro | 551 | |||
| UniProtKB:A0A8M6Z2H2 | InterPro | 990 |
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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 | CH211-77K19 | ZFIN Curated Data | |
| Contained in | BAC | CH211-128D6 | ZFIN Curated Data | |
| Contained in | BAC | CH211-287B5 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001365104 (1) | 5474 nt | ||
| Genomic | GenBank:BX005455 (1) | 164741 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z2H2 (1) | 990 aa |
- Shi, Z., Chen, S., Han, X., Peng, R., Luo, J., Yang, L., Zheng, Y., Wang, H. (2019) The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects. Molecular cytogenetics. 12:8
- 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
- Gistelinck, C., Gioia, R., Gagliardi, A., Tonelli, F., Marchese, L., Bianchi, L., Landi, C., Bini, L., Huysseune, A., Witten, P.E., Staes, A., Gevaert, K., De Rocker, N., Menten, B., Malfait, F., Leikin, S., Carra, S., Tenni, R., Rossi, A., De Paepe, A., Coucke, P., Willaert, A., Forlino, A. (2016) Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin. Scientific Reports. 6:21540
- Martins, R., Vieira, F.A., Power, D.M. (2014) Calcitonin receptor family evolution and fishing for function using in silico promoter analysis. General and comparative endocrinology. 209:61-73
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