SPOPL Gene
Speckle-Type POZ Protein-Like: A Key Regulator of Protein Ubiquitination and Degradation
Gene Information Card
| Symbol | SPOPL |
|---|---|
| Full Name | Speckle-Type POZ Protein-Like |
| Gene Type | Protein coding |
| Chromosomal Location | 2q22.1 |
| NCBI Gene ID | 339745 ncbi.nlm.nih.gov/gene/339745 |
| Ensembl ID | ENSG00000162946 |
| UniProt ID | Q5TDH0 |
| OMIM ID | 611607 |
| HGNC ID | 27966 |
| Aliases | SPOP-like, BC-2, HSPC138 |
Description
SPOPL (Speckle-Type POZ Protein-Like) is a protein-coding gene that encodes a component of the E3 ubiquitin ligase complex. It contains an N-terminal MATH domain and a C-terminal BTB/POZ domain, mediating substrate recognition and ubiquitination. SPOPL is involved in protein degradation pathways, regulating cellular processes such as cell cycle, transcription, and DNA damage response. It shares structural similarity with SPOP but has distinct substrate specificity and expression patterns.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | SPOPL mutations may alter substrate ubiquitination, affecting oncogenic pathways | COSMIC; PMID: 26689913 |
| Breast Cancer | Dysregulation of SPOPL expression linked to tumor progression | NCBI Gene; PMID: 25631443 |
| Endometrial Cancer | SPOPL mutations identified in tumor samples, potential tumor suppressor role | COSMIC; PMID: 25759119 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 6.7 | Low |
| Liver | 4.2 | Not detected |
| Heart | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| MCF7 | 7.4 | Breast cancer cells |
| LNCaP | 6.1 | Prostate cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R121Q | Missense | 0.5% | Alters MATH domain, potential loss of substrate binding |
| p.G160V | Missense | 0.3% | Located in BTB domain, may affect dimerization |
| p.E47* | Nonsense | 0.1% | Truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or reduced ubiquitination activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Mutations in BTB domain may disrupt complex assembly, interfering with wild-type SPOPL.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • ubiquitin-protein transferase activity (GO:0004842) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
SPOPL is a 374-amino acid protein with a molecular weight of approximately 42 kDa. It contains a MATH domain (residues 28-166) that recognizes substrates via a specific degron motif, and a BTB/POZ domain (residues 196-299) that mediates dimerization and interaction with Cullin-3. SPOPL functions as a substrate adaptor for the CUL3-RING E3 ubiquitin ligase complex, targeting proteins such as DAXX and GLI2 for proteasomal degradation. Its expression is enriched in testis and brain, and it plays roles in spermatogenesis and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPOPL Knockout HEK293 Cell Line | EDJ-KQ15490 | Human | 339745 | Details Get a Quote |
| SPOPL Knockout HCT 116 Cell Line | EDJ-KQ47184 | Human | 339745 | Details Get a Quote |
| SPOPL Knockout HeLa Cell Line | EDJ-KQ45045 | Human | 339745 | Details Get a Quote |
| SPOPL Knockout A-549 Cell Line | EDJ-KQ46280 | Human | 339745 | Details Get a Quote |
