Gene
znf513a
- ID
- ZDB-GENE-030131-9895
- Name
- zinc finger protein 513a
- Symbol
- znf513a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity and metal ion binding activity. Acts upstream of or within retina development in camera-type eye. Predicted to be active in nucleus. Is expressed in hindbrain; spinal cord; and telencephalon. Human ortholog(s) of this gene implicated in retinitis pigmentosa 58. Orthologous to human ZNF513 (zinc finger protein 513).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb557 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Li et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ihb459 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| ihb460 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| sa15908 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43410 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa45692 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-znf513a | Zebrafish Nomenclature Committee | |
| MO1-znf513a | N/A | Li et al., 2010 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 58 | Alliance | ?Retinitis pigmentosa 58 | 613617 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Ikaros C2H2-type zinc-finger | Zinc finger and ubiquitin peptidase domain-containing protein | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|---|---|---|
| UniProtKB:R4GDS0 | InterPro | 548 | ||||
| UniProtKB:A0A8M9PBW4 | InterPro | 424 | ||||
| UniProtKB:A0A8M2B7B3 | InterPro | 468 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
znf513a-201
(1)
|
Ensembl | 3,345 nt |
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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 | CH211-101L18 | ||
| Contained in | BAC | CH211-278J3 | ||
| Contained in | Fosmid | ZFOS-1375G1 | ZFIN Curated Data | |
| Encodes | EST | cb557 | Thisse et al., 2001 | |
| Encodes | EST | fi87d06 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001309467 (1) | 2949 nt | ||
| Genomic | GenBank:BX276101 (1) | 167149 nt | ||
| Polypeptide | UniProtKB:R4GDS0 (1) | 548 aa |
- Comparative Orthology
- Alliance
- 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
- Nachtigall, P., Dias, M., Pinhal, D. (2014) Evolution and genomic organization of muscle microRNAs in fish genomes. BMC Evolutionary Biology. 14:196
- Li, L., Nakaya, N., Chavali, V.R., Ma, Z., Jiao, X., Sieving, P.A., Riazuddin, S., Tomarev, S.I., Ayyagari, R., Riazuddin, S.A., and Hejtmancik, J.F. (2010) A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa. American journal of human genetics. 87(3):400-409
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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