Gene
wfs1b
- ID
- ZDB-GENE-050809-19
- Name
- Wolfram syndrome 1b (wolframin)
- Symbol
- wfs1b Nomenclature History
- Previous Names
-
- im:7150991
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including neuron projection development; optomotor response; and pancreas regeneration. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; eye; otic epithelium; otic vesicle; and pleuroperitoneal region. Used to study Wolfram syndrome. Human ortholog(s) of this gene implicated in several diseases, including Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple). Orthologous to human WFS1 (wolframin ER transmembrane glycoprotein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7150991 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ah828 | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| sa1914 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16422 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17104 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18290 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31975 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-wfs1b | (3) | |
| CRISPR2-wfs1b | (3) | |
| CRISPR3-wfs1b | O'Hare et al., 2016 | |
| CRISPR4-wfs1b | (2) | |
| MO1-wfs1b | N/A | O'Hare et al., 2016 |
| MO2-wfs1b | N/A | O'Hare et al., 2016 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 6 | Alliance | Deafness, autosomal dominant 6/14/38 | 600965 |
| autosomal dominant Wolfram syndrome | Alliance | Wolfram-like syndrome, autosomal dominant | 614296 |
| cataract 41 | Alliance | ?Cataract 41 | 116400 |
| type 2 diabetes mellitus | Alliance | {Diabetes mellitus, noninsulin-dependent, association with} | 125853 |
| Wolfram syndrome 1 | Alliance | Wolfram syndrome 1 | 222300 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Wolfram syndrome | wfs1bsa16422/sa16422 (AB) | standard conditions | Cairns et al., 2021 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Tetratricopeptide-like helical domain superfamily | Wolframin | Wolframin, cysteine-rich domain | Wolframin, EF-hand domain | Wolframin family | Wolframin, OB-fold domain | Wolframin, Sel1-like repeat |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F921 | InterPro | 895 | |||||||
| UniProtKB:A0A8M9QKW2 | InterPro | 714 |
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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 | CH211-255I20 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7150991 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_679418 (1) | 3704 nt | ||
| Genomic | GenBank:BX005356 (2) | 171108 nt | ||
| Polypeptide | UniProtKB:E7F921 (1) | 895 aa |
- García-Pupo, L., Crouzier, L., Bencomo-Martínez, A., Meunier, J., Morilleau, A., Delprat, B., Carrazana, M.S., Menéndez Soto Del Valle, R., Maurice, T., Rodríguez-Tanty, C. (2024) Amylovis-201 is a new dual-target ligand, acting as an anti-amyloidogenic compound and a potent agonist of the σ1 chaperone protein. Acta pharmaceutica Sinica. B. 14:434543594345-4359
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Crouzier, L., Meunier, J., Carles, A., Morilleau, A., Vrigneau, C., Schmitt, M., Bourguignon, J.J., Delprat, B., Maurice, T. (2023) Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma-1 receptor-positive modulator with cognitive and neuroprotective properties. Phytotherapy research : PTR. 38(2):694-712
- Crouzier, L., Danese, A., Yasui, Y., Richard, E.M., Liévens, J.C., Patergnani, S., Couly, S., Diez, C., Denus, M., Cubedo, N., Rossel, M., Thiry, M., Su, T.P., Pinton, P., Maurice, T., Delprat, B. (2022) Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models. Science Translational Medicine. 14:eabh3763
- Crouzier, L., Richard, E.M., Diez, C., Alzaeem, H., Denus, M., Cubedo, N., Delaunay, T., Glendenning, E., Baxendale, S., Liévens, J.C., Whitfield, T.T., Maurice, T., Delprat, B. (2022) Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines. Human molecular genetics. 31(16):2711-2727
- Crouzier, L., Richard, E.M., Diez, C., Denus, M., Peyrel, A., Alzaeem, H., Cubedo, N., Delaunay, T., Maurice, T., Delprat, B. (2022) NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome. Molecular therapy. Methods & clinical development. 27:295-308
- Wang, Z., Wang, X., Shi, L., Cai, Y., Hu, B. (2022) Wolfram syndrome 1b mutation suppresses Mauthner-cell axon regeneration via ER stress signal pathway. Acta neuropathologica communications. 10:184184
- Cairns, G., Burté, F., Price, R., O'Connor, E., Toms, M., Mishra, R., Moosajee, M., Pyle, A., Sayer, J.A., Yu-Wai-Man, P. (2021) A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay. Scientific Reports. 11:20491
- 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
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