ZFIN is now using GRCz12tu for Genomic Data
Gene
wdfy3
- ID
- ZDB-GENE-070705-153
- Name
- WD repeat and FYVE domain containing 3
- Symbol
- wdfy3 Nomenclature History
- Previous Names
-
- si:ch211-259k10.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable metal ion binding activity. Predicted to be involved in aggrephagy. Predicted to be located in cytoplasm. Human ortholog(s) of this gene implicated in primary autosomal dominant microcephaly 18. Orthologous to human WDFY3 (WD repeat and FYVE domain containing 3).
- 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
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa2246 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa2247 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa6996 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa9941 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa10584 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14824 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa17802 | Allele with one point mutation | Unknown | Missense, Splice Site | ENU | |
sa20497 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa20498 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa33669 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
primary autosomal dominant microcephaly 18 | Alliance | ?Microcephaly 18, primary, autosomal dominant | 617520 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Alfy-like, armadillo-like repeat domain | Armadillo-like helical | Armadillo-type fold | BEACH domain | BEACH domain-containing protein | BEACH domain superfamily | Concanavalin A-like lectin/glucanase domain superfamily | FYVE zinc finger | PH-BEACH domain | PH-like domain superfamily | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily | Zinc finger, FYVE/PHD-type | Zinc finger, FYVE-related | Zinc finger, RING/FYVE/PHD-type |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2BCS8 | InterPro | 3525 | |||||||||||||||||
UniProtKB:A0A8M6Z0T9 | InterPro | 3496 | |||||||||||||||||
UniProtKB:A0A8M6YZB2 | InterPro | 3497 | |||||||||||||||||
UniProtKB:A0A8M6Z6H7 | InterPro | 3523 | |||||||||||||||||
UniProtKB:A0A8M1QLH0 | InterPro | 3505 |
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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 | CH211-259K10 | ZFIN Curated Data | |
Contained in | BAC | DKEY-193C22 | ZFIN Curated Data | |
Contained in | Fosmid | CH1073-147A14 | ZFIN Curated Data |
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Type | Accession # | Genome Assembly | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_068221466 (1) | GRCz12tu | 15101 nt | |
Genomic | GenBank:BX571674 (1) | 195181 nt | ||
Polypeptide | UniProtKB:A0AB32TW77 (1) | 3542 aa |
- 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
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