EVPL - envoplakin Gene
Also Known as EVPK
Species: Homo sapiens
About EVPL
This gene has 5 transcripts (splice variants), 272 orthologues and 2 paralogues. Biased expression in skin (RPKM 47.9), esophagus (RPKM 41.4) and 9 other tissues.
Summary
This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal Cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]
EVPL Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001320747.2 | NP_001307676.1 | envoplakin isoform 1 |
| NM_001988.4 | NP_001979.2 | envoplakin isoform 2 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in keratinocyte differentiation |
IDA
IDA: Inferred from direct assay
|
10908733 | GOA |
| involved in peptide cross-linking |
IDA
IDA: Inferred from direct assay
|
10908733 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cornified envelope |
IDA
IDA: Inferred from direct assay
|
10908733 | GOA |
EVPL Protein Structure
Plectin: Plectin repeat (1682 - 1720)
Plectin: Plectin repeat (1827 - 1862)
Plectin: Plectin repeat (1856 - 1900)
Plectin: Plectin repeat (1894 - 1929)
Plectin: Plectin repeat (1933 - 1975)
- 0
- 400
- 800
- 1200
- 1600
- 2033 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
envoplakin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Paraneoplastic Pemphigus |
|
|
| Pemphigus |
|
|
| Pemphigus Foliaceus |
|
|
| Pemphigus Vulgaris, Familial |
|
|
| Bullous Pemphigoid |
|
|
| Bullous Skin Disease |
|
|
| Palmoplantar Keratoderma, Epidermolytic |
|
|
| Thymoma |
|
|
| Bronchiolitis Obliterans |
|
|
| Pemphigoid |
|
|
| Pseudomembranous Conjunctivitis |
|
|
| Iga Pemphigus |
|
|
| B-Cell Adult Acute Lymphocytic Leukemia |
|
|
| Chronic Monocytic Leukemia |
|
|
| Subcorneal Pustular Dermatosis |
|
|
| Pemphigoid Gestationis |
|
|
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
|
| B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1 |
|
|
| Acute Basophilic Leukemia |
|
|
| Xeroderma Pigmentosum, Complementation Group B |
|
|
| Palmoplantar Keratoderma, Nonepidermolytic |
|
|
| Lichen Disease |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | EVPL | VGNC | VGNC:97423 |
| Bos taurus | EVPL | VGNC | VGNC:55823 |
| Mus musculus | EVPL | MGD | MGI:107507 |
| Macaca mulatta | EVPL | VGNC | VGNC:97766 |
| Rattus norvegicus | EVPL | RGD | RGD:1306141 |
| Canis familiaris | EVPL | VGNC | VGNC:51954 |
| Others | EVPL | NCBI |