Gene
usp9
- ID
- ZDB-GENE-061019-1
- Name
- ubiquitin specific peptidase 9
- Symbol
- usp9 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease activity. Predicted to be involved in cell migration and protein deubiquitination. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Y-linked spermatogenic failure 2 and non-syndromic X-linked intellectual disability. Is expressed in endodermal cell; myotome; nervous system; pectoral fin; and solid lens vesicle. Orthologous to several human genes including USP9X (ubiquitin specific peptidase 9 X-linked).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Khut et al., 2007
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Köglsberger et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| female-restricted syndromic X-linked intellectual disability 99 | Alliance | Intellectual developmental disorder, X-linked 99, syndromic, female-restricted | 300968 |
| non-syndromic X-linked intellectual disability 99 | Alliance | Intellectual developmental disorder, X-linked 99 | 300919 |
| Y-linked spermatogenic failure 2 | Alliance | Spermatogenic failure, Y-linked, 2 | 415000 |
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 | IPR021905 | Ubiquitin C-terminal hydrolase-like, DUF3517 |
| Domain | IPR028889 | Ubiquitin specific protease domain |
| Family | IPR050164 | Ubiquitin carboxyl-terminal hydrolases |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
Domain Details Per Protein
| Protein | Length | Armadillo-type fold | Papain-like cysteine peptidase superfamily | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | Ubiquitin carboxyl-terminal hydrolases | Ubiquitin C-terminal hydrolase-like, DUF3517 | Ubiquitin specific protease, conserved site | Ubiquitin specific protease domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q4FE55
|
2551 | |||||||
|
UniProtKB:A0A8M3AW48
|
2557 | |||||||
|
UniProtKB:A0A8M3B5Q3
|
2593 | |||||||
|
UniProtKB:A0A8M3B2R0
|
2558 | |||||||
|
UniProtKB:A0A8M2BF50
|
2594 |
Interactions and Pathways
No data available
Plasmids
No data available