LELP1
Late Cornified Envelope-Like Proline-Rich 1
Gene Information Card
| Symbol | LELP1 |
|---|---|
| Full Name | late cornified envelope-like proline-rich 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 440275 ncbi.nlm.nih.gov/gene/440275 |
| Ensembl ID | ENSG00000196166 |
| UniProt ID | Q5T7P2 |
| OMIM ID | 616315 |
| HGNC ID | 33879 |
| Aliases | LELP, LELP-1 |
Description
LELP1 encodes a proline-rich protein that is a component of the cornified envelope, a specialized structure in the epidermis that provides a barrier against environmental insults. The gene is located within the epidermal differentiation complex on chromosome 1q21.3 and is expressed in keratinocytes during terminal differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations reported in ClinVar | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Esophagus | 8.5 | Low |
| Oral mucosa | 6.3 | Low |
| Vagina | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 22.0 | High expression |
| NHEK (normal human epidermal keratinocytes) | 18.5 | High expression |
| A431 (epidermoid carcinoma) | 12.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in COSMIC or ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • cornified envelope | • keratinocyte differentiation |
| • structural molecule activity | • epidermis development |
Pathways
• Keratinocyte differentiation
• Formation of the cornified envelope
Protein Summary
LELP1 is a proline-rich protein (UniProt Q5T7P2) that localizes to the cornified envelope in terminally differentiating keratinocytes. It contributes to the mechanical strength and barrier function of the skin. No disease-associated mutations have been reported in major databases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LELP1 Knockout HEK293 Cell Line | EDJ-KQ2554 | Human | 149018 | Details Get a Quote |
| LELP1 Knockout HeLa Cell Line | EDJ-KQ58620 | Human | 149018 | Details Get a Quote |
| LELP1 Knockout A-549 Cell Line | EDJ-KQ67102 | Human | 149018 | Details Get a Quote |
| LELP1 Knockout HCT 116 Cell Line | EDJ-KQ75512 | Human | 149018 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
