USP9X Gene Summary [Human]
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | USP9X |
| Official Name | ubiquitin specific peptidase 9 X-linked [Source:HGNC Symbol;Acc:HGNC:12632] |
| Ensembl ID | ENSG00000124486 |
| Bio databases IDs | |
| Aliases | ubiquitin specific peptidase 9 X-linked |
| Synonyms | 5730589N07Rik, DFFRX, FAF, Fafl, FAF-X, FAM, hFAM, MRX99, MRXS99F, RGD1560056, ubiquitin specific peptidase 9, X chromosome, ubiquitin specific peptidase 9 X-linked, ubiquitin specific peptidase 9, X-linked, XLID99 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human USP9X often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF3517)
- ubiquitin protein ligase binding
- SMAD binding
- catalytic domain
- peptidase
- protein binding
- Peptidase_C19
- ubiquitin thiolesterase
- cysteine-type peptidase
- cysteine endopeptidase
- Ubiquitin carboxyl-terminal hydrolase
- ubiquitin-specific protease
- deubiquitinating catalytic domain
- ubiquitin-like-specific protease
Pathways
Biological processes and signaling networks where the USP9X gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- precursor B-cell acute lymphoblastic leukemia
- metastasis
- neoplasia
- COVID-19
- hereditary disorder
- female-restricted X-linked syndromic mental retardation-99
- renal clear cell adenocarcinoma
- renal clear cell cancer
- severe mental retardation
- X-linked mental retardation type 99
role in cell
- quantity
- expression in
- apoptosis
- proliferation
- growth
- phosphorylation in
- replication in
- survival
- migration
- clonogenicity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- centriolar satellite
- Cytoplasm
- cilia
- apical compartment
- perinuclear region
- postsynaptic region
- Nucleus
- centrosome
- Golgi Apparatus
- cell-cell contacts
- cytosol
- apical membrane
- basal membrane
- growth cone
- cytoplasmic vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human USP9X gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- female gamete generation
- protein deubiquitination
- protein deubiquitination involved in ubiquitin-dependent protein catabolic process
- positive regulation of protein binding
- monoubiquitinated protein deubiquitination
- cilium morphogenesis
- protein localization
- transforming growth factor beta receptor signaling pathway
- chromosome segregation
- regulation of circadian rhythm
- negative regulation of transcription from RNA polymerase II promoter
- cell division
- DNA dealkylation involved in DNA repair
- neuron migration
- rhythmic process
- axon extension
- BMP signaling pathway
- protein import into peroxisome matrix, receptor recycling
- protein stabilization
- cell migration
- protein K63-linked deubiquitination
- protein ubiquitination
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- centrosome
- cytoplasm
- membrane
- cilium
- cytosol
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- protein binding
- cysteine-type endopeptidase activity
- co-SMAD binding
- cysteine-type peptidase activity