DSEL (Dermatan Sulfate Epimerase-Like)
Gene encoding a protein involved in dermatan sulfate biosynthesis, with potential roles in cancer and development.
Gene Information Card
| Symbol | DSEL |
|---|---|
| Full Name | Dermatan Sulfate Epimerase-Like |
| Gene Type | protein-coding |
| Chromosomal Location | 18q22.1 |
| NCBI Gene ID | 92126 ncbi.nlm.nih.gov/gene/92126 |
| Ensembl ID | ENSG00000141431 |
| UniProt ID | Q8IZJ5 |
| OMIM ID | 611125 |
| HGNC ID | 21144 |
| Aliases | C18orf4, DSE2, SART2, UNQ307/PRO350 |
Description
DSEL (Dermatan Sulfate Epimerase-Like) encodes a protein that belongs to the dermatan sulfate epimerase family. It is involved in the conversion of D-glucuronic acid to L-iduronic acid during dermatan sulfate biosynthesis. The gene is located on chromosome 18q22.1 and is expressed in various tissues. DSEL has been implicated in cancer, particularly through its role in tumor antigen recognition and potential involvement in tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | DSEL is a tumor antigen recognized by cytotoxic T lymphocytes; may influence tumor immune surveillance. | PubMed: 12646589, 15690368 |
| Colorectal cancer | Altered DSEL expression associated with tumor progression and metastasis. | PubMed: 23431142 |
| Breast cancer | DSEL expression changes linked to invasive phenotype. | PubMed: 23431142 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.4 | Medium |
| Colon | 10.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 12.3 | Lung cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HCT116 | 14.2 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown |
| c.1543G>A (p.Gly515Ser) | Missense | <0.01% | Unknown |
| c.1861_1862insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1861_1862insA) likely result in truncated protein and loss of epimerase activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in DSEL.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • endoplasmic reticulum (GO:0005783) |
| • Golgi apparatus (GO:0005794) | • isomerase activity (GO:0016853) |
| • dermatan sulfate biosynthetic process (GO:0030203) | • chondroitin sulfate biosynthetic process (GO:0030206) |
Pathways
• Glycosaminoglycan biosynthesis - dermatan sulfate (Reactome: R-HSA-2024096)
• Chondroitin sulfate/dermatan sulfate metabolism (KEGG: hsa00532)
Protein Summary
DSEL encodes a 720-amino acid protein (UniProt Q8IZJ5) localized to the endoplasmic reticulum and Golgi apparatus. It functions as an epimerase converting D-glucuronic acid to L-iduronic acid in dermatan sulfate chains. The protein is a tumor antigen (SART2) recognized by cytotoxic T cells, suggesting a role in cancer immune response. Expression is moderate in brain, testis, and kidney, with lower levels in lung and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSEL Knockout HEK293 Cell Line | EDJ-KQ10843 | Human | 92126 | Details Get a Quote |
| DSEL Knockout HeLa Cell Line | EDJ-KQ38504 | Human | 92126 | Details Get a Quote |
| DSEL Knockout A-549 Cell Line | EDJ-KQ66321 | Human | 92126 | Details Get a Quote |
| DSEL Knockout HCT 116 Cell Line | EDJ-KQ74745 | Human | 92126 | Details Get a Quote |
