SCEL Gene - Sciellin
Comprehensive gene information for SCEL (sciellin), including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SCEL |
|---|---|
| Full Name | sciellin |
| Gene Type | protein-coding |
| Chromosomal Location | 13q22.3 |
| NCBI Gene ID | 8796 ncbi.nlm.nih.gov/gene/8796 |
| Ensembl ID | ENSG00000136155 |
| UniProt ID | O95171 |
| OMIM ID | 604112 |
| HGNC ID | 10572 |
| Aliases | SCELIN, FLJ20174 |
Description
SCEL (sciellin) is a protein-coding gene located on chromosome 13q22.3. It encodes sciellin, a component of the cornified envelope in keratinocytes, which is essential for epidermal barrier function. Sciellin is involved in the assembly of the cornified cell envelope during terminal differentiation of keratinocytes. Mutations and altered expression of SCEL have been associated with skin disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ichthyosis | Disruption of cornified envelope integrity due to SCEL mutations | OMIM #604112 |
| Squamous cell carcinoma | Altered SCEL expression linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 48.5 | High |
| Esophagus | 25.3 | Medium |
| Oral mucosa | 20.1 | Medium |
| Lung | 5.2 | Low |
| Breast | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 62.1 | High expression in keratinocyte cell line |
| A431 (epidermoid carcinoma) | 45.7 | High expression |
| NCI-H226 (lung squamous) | 12.3 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Potential loss of function |
| c.245C>T | nonsense | 0.005% | Premature truncation |
| c.678_679insA | frameshift | 0.002% | Frameshift, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in SCEL are predicted to cause loss of function, impairing cornified envelope formation.
Gain of Function (GOF)
No gain-of-function mutations reported for SCEL.
Dominant Negative (DN)
No dominant-negative mutations reported for SCEL.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratinocyte differentiation (GO:0030216) |
| • keratinization (GO:0031424) | • keratin filament (GO:0045095) |
| • cornified envelope (GO:0001533) |
Pathways
• Keratinocyte differentiation (Reactome: R-HSA-6809371)
• Formation of the cornified envelope (Reactome: R-HSA-6809374)
Protein Summary
Sciellin is a 75 kDa protein that localizes to the periphery of keratinocytes and is a component of the cornified envelope. It contains multiple repeat domains and is cross-linked by transglutaminases during terminal differentiation. Sciellin contributes to the mechanical resilience of the epidermis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCEL Knockout HEK293 Cell Line | EDJ-KQ6362 | Human | 8796 | Details Get a Quote |
| SCEL Knockout A-549 Cell Line | EDJ-KQ30324 | Human | 8796 | Details Get a Quote |
| SCEL Knockout HeLa Cell Line | EDJ-KQ55008 | Human | 8796 | Details Get a Quote |
| SCEL Knockout HCT 116 Cell Line | EDJ-KQ71960 | Human | 8796 | Details Get a Quote |
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