Gene
usp45
- ID
- ZDB-GENE-100211-2
- Name
- ubiquitin specific peptidase 45
- Symbol
- usp45 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity. Involved in neural retina development and photoreceptor cell maintenance. Located in photoreceptor inner segment. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 19. Orthologous to human USP45 (ubiquitin specific peptidase 45).
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa12916 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13100 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36193 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36194 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42767 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-usp45 | N/A | Tse et al., 2009 |
| MO2-usp45 | N/A | Yi et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 19 | Alliance | ?Leber congenital amaurosis 19 | 618513 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018200 | Ubiquitin specific protease, conserved site |
| Domain | IPR001394 | Peptidase C19, ubiquitin carboxyl-terminal hydrolase |
| Domain | IPR001607 | Zinc finger, UBP-type |
| Domain | IPR028889 | Ubiquitin specific protease domain |
| Family | IPR050164 | Ubiquitin carboxyl-terminal hydrolases |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Papain-like cysteine peptidase superfamily | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | Ubiquitin carboxyl-terminal hydrolases | Ubiquitin specific protease, conserved site | Ubiquitin specific protease domain | Zinc finger, RING/FYVE/PHD-type | Zinc finger, UBP-type |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E9QG68 | InterPro | 803 | |||||||
| UniProtKB:A0AB13ABF9 | InterPro | 803 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-235C15 | ||
| Contained in | BAC | DKEY-48A22 | ||
| Contained in | BAC | DKEY-165N16 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001423966 (1) | 4103 nt | ||
| Genomic | GenBank:CR848819 (1) | 215554 nt | ||
| Polypeptide | UniProtKB:A0AB13ABF9 (1) | 803 aa |
- Cosse-Etchepare, C., Gervi, I., Buisson, I., Formery, L., Schubert, M., Riou, J.F., Umbhauer, M., Le Bouffant, R. (2018) Pou3f transcription factor expression during embryonic development highlights distinct pou3f3 and pou3f4 localization in the Xenopus laevis kidney. The International journal of developmental biology. 62:325-333
- Yi, Z., Ouyang, J., Sun, W., Xiao, X., Li, S., Jia, X., Wang, P., Zhang, Q. (2018) Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. Journal of Medical Genetics. 56(5):325-331
- Toulis, V., Garanto, A., Marfany, G. (2016) Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina. Methods in molecular biology (Clifton, N.J.). 1449:85-101
- 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
- Tse, W.K., Eisenhaber, B., Ho, S.H., Ng, Q., Eisenhaber, F., and Jiang, Y.J. (2009) Genome-wide loss-of-function analysis of deubiquitylating enzymes for zebrafish development. BMC Genomics. 10:637
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