USP16: Ubiquitin Specific Peptidase 16
A deubiquitinating enzyme involved in cell cycle regulation, chromatin remodeling, and neurodevelopmental disorders.
Gene Information Card
| Symbol | USP16 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 10600 ncbi.nlm.nih.gov/gene/10600 |
| Ensembl ID | ENSG00000160211 |
| UniProt ID | Q9Y5T5 |
| OMIM ID | 604724 |
| HGNC ID | 12614 |
| Aliases | UBP-M, MSTP039, deubiquitinating enzyme 16 |
Description
USP16 (Ubiquitin Specific Peptidase 16) encodes a deubiquitinating enzyme that removes ubiquitin from specific protein substrates. It plays a critical role in cell cycle progression, particularly at the metaphase-to-anaphase transition, and is involved in chromatin remodeling through deubiquitination of histone H2A. USP16 is located on chromosome 21, within the Down syndrome critical region, and its dysregulation is implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Down syndrome | Overexpression due to trisomy 21 leads to reduced H2A deubiquitination and impaired neural progenitor cell proliferation. | PMID: 23624501 |
| Neurodevelopmental disorder with microcephaly and seizures | Biallelic loss-of-function mutations impair deubiquitinase activity, disrupting neuronal development. | PMID: 31006510 |
| Breast cancer | USP16 overexpression correlates with poor prognosis; promotes cell proliferation via deubiquitination of histone H2A. | PMID: 29713085 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Lung | 6.5 | Low |
| Liver | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 7.4 | Low expression |
| MCF7 | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.127C>T (p.Arg43*) | Nonsense | Rare | Loss of function; truncation of catalytic domain |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Reduced deubiquitinase activity |
| c.1021_1022del (p.Leu341fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein; missense mutations can impair catalytic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • nucleus (GO:0005634) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • cell cycle (GO:0007049) |
| • protein deubiquitination (GO:0016579) | • thiol-dependent ubiquitinyl hydrolase activity (GO:0036459) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Cell cycle (KEGG: hsa04110)
• Chromatin modifying enzymes (Reactome: R-HSA-3244100)
Protein Summary
USP16 is a 823-amino acid deubiquitinating enzyme containing a conserved UBP (ubiquitin-specific protease) domain. It specifically cleaves ubiquitin from histone H2A at lysine 119, thereby regulating chromatin compaction and gene expression. The protein localizes to the nucleus and is essential for proper mitotic progression. Its activity is modulated by phosphorylation during the cell cycle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP16 Knockout HEK293 Cell Line | EDJ-KQ3856 | Human | 10600 | Details Get a Quote |
| USP16 Knockout A-549 Cell Line | EDJ-KQ26045 | Human | 10600 | Details Get a Quote |
| USP16 Knockout HCT 116 Cell Line | EDJ-KQ26046 | Human | 10600 | Details Get a Quote |
| USP16 Knockout HeLa Cell Line | EDJ-KQ26047 | Human | 10600 | Details Get a Quote |
