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 enable cysteine-type deubiquitinase activity. Predicted to be involved in cell migration and regulation of protein stability. Predicted to act upstream of or within protein deubiquitination and proteolysis. Predicted to be active in cytosol and nucleus. Is expressed in endodermal cell; myotome; nervous system; pectoral fin; and solid lens vesicle. Human ortholog(s) of this gene implicated in Y-linked spermatogenic failure 2; female-restricted syndromic X-linked intellectual disability 99; and non-syndromic X-linked intellectual disability 99. 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 |
Domain | IPR055176 | UBP24/USP9X/USP9Y, ubiquitin-like 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 | UBP24/USP9X/USP9Y, ubiquitin-like 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