USP27X Gene - Ubiquitin Specific Peptidase 27 X-Linked
Comprehensive genomic and functional analysis of USP27X, a deubiquitinating enzyme implicated in cancer and neurodevelopmental disorders.
Gene Information Card
| Symbol | USP27X |
|---|---|
| Full Name | Ubiquitin specific peptidase 27, X-linked |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.3-p11.23 |
| NCBI Gene ID | 389856 ncbi.nlm.nih.gov/gene/389856 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 300982 |
| HGNC ID | 13488 |
| Aliases | USP27, USP27X, DUB-27, FLJ22624 |
Description
USP27X (Ubiquitin Specific Peptidase 27, X-linked) encodes a deubiquitinating enzyme (DUB) that removes ubiquitin from target proteins, regulating protein stability and signaling pathways. It is involved in cell cycle control, DNA damage response, and transcriptional regulation. USP27X is located on the X chromosome and escapes X-inactivation, suggesting dosage-sensitive functions. Alterations in USP27X have been linked to various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | USP27X overexpression stabilizes oncogenic substrates (e.g., MYC) via deubiquitination, promoting cell proliferation. | PMID: 25605274 |
| Lung adenocarcinoma | USP27X amplification and increased expression correlate with poor prognosis; functional studies show enhanced tumor growth. | PMID: 29395067 |
| Neurodevelopmental disorder (X-linked intellectual disability) | Loss-of-function mutations in USP27X impair neuronal development and synaptic function. | PMID: 31036916 |
| Colorectal cancer | USP27X upregulation associated with metastasis and chemoresistance via Wnt/β-catenin pathway modulation. | PMID: 31570836 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebral cortex) | 8.3 | Low |
| Lung | 6.7 | Low |
| Breast | 5.9 | Low |
| Colon | 4.8 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.1 | Embryonic kidney; moderate expression |
| HeLa | 7.4 | Cervical carcinoma; low expression |
| A549 | 6.8 | Lung carcinoma; low expression |
| MCF7 | 5.5 | Breast carcinoma; low expression |
| K562 | 4.2 | Leukemia; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of protein expression; likely loss-of-function |
| c.287C>T (p.Pro96Leu) | Missense | 0.01% (gnomAD) | Reduced deubiquitinase activity; associated with intellectual disability |
| c.1042C>T (p.Arg348*) | Nonsense | 0.005% (gnomAD) | Premature stop; loss-of-function |
| c.1234G>A (p.Glu412Lys) | Missense | 0.02% (COSMIC) | Gain-of-function in breast cancer; increased MYC stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg348*) lead to truncated, non-functional protein; missense mutations (e.g., p.Pro96Leu) impair catalytic activity.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu412Lys) enhance deubiquitinase activity, stabilizing oncoproteins like MYC.
Dominant Negative (DN)
No dominant-negative mutations reported for USP27X.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • protein deubiquitination (GO:0016579) | • proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161) |
Pathways
• Ubiquitin-proteasome system (KEGG: hsa04120)
• Deubiquitination (Reactome: R-HSA-5688426)
• MYC stabilization (PMID: 25605274)
Protein Summary
USP27X is a 503-amino acid deubiquitinating enzyme containing a catalytic cysteine box (Cys-box) and a His-box. It cleaves ubiquitin chains from target proteins, reversing ubiquitination and preventing proteasomal degradation. USP27X localizes to both nucleus and cytoplasm and interacts with components of the ubiquitin-proteasome system. Its activity is critical for regulating levels of key oncoproteins (e.g., MYC) and cell cycle regulators. Structural studies show a conserved USP fold with a catalytic triad (Cys, His, Asp).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP27X Knockout HEK293 Cell Line | EDJ-KQ16076 | Human | 389856 | Details Get a Quote |
| USP27X Knockout HeLa Cell Line | EDJ-KQ45985 | Human | 389856 | Details Get a Quote |
| USP27X Knockout A-549 Cell Line | EDJ-KQ47204 | Human | 389856 | Details Get a Quote |
| USP27X Knockout HCT 116 Cell Line | EDJ-KQ47205 | Human | 389856 | Details Get a Quote |
