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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 (Envoplakin) is a Protein Coding gene. Diseases associated with EVPL include Paraneoplastic Pemphigus and Pemphigus. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and intermediate filament binding. An important paralog of this gene is PPL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO:0019215 | intermediate filament binding | IEA | -- |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001533 | cornified envelope | IEA,TAS | -- |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005882 | colocalizes_with intermediate filament | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratinization |
.33
|
|
2 | Developmental Biology | ||
3 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Keratin filaments
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008544 | epidermis development | IEA,TAS | 8707850 |
GO:0018149 | peptide cross-linking | IDA | 10908733 |
GO:0030216 | keratinocyte differentiation | IDA | 10908733 |
GO:0031424 | keratinization | IEA | -- |
GO:0042060 | wound healing | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EVPL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EVPL 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | EVPL 30 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Evpl 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Evpl 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | EVPL 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | evpl 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | evpla 30 31 |
|
ManyToMany | |
evplb 31 |
|
ManyToMany | |||
sbcb742 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10086 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | shot 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vab-10 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs144574102 | Benign: not provided | 76,021,699(-) |
C/G NM_001988.4(EVPL):c.890G>C (p.Arg297Pro) |
MISSENSE | |
rs369580524 | Likely Benign: not provided | 76,017,837(-) |
G/A NM_001988.4(EVPL):c.1612C>T (p.Leu538=) |
SYNONYMOUS | |
rs755302072 | Benign: Abnormality of neuronal migration | 76,023,539(-) |
C/T NM_001988.4(EVPL):c.314G>A (p.Arg105Gln) |
MISSENSE | |
rs777067468 | Benign: Abnormality of neuronal migration | 76,009,079(-) |
C/A NM_001988.4(EVPL):c.4126G>T (p.Val1376Leu) |
MISSENSE | |
rs10445216 | - |
p.Tyr168Cys |
Disorder | Aliases | PubMed IDs |
---|---|---|
paraneoplastic pemphigus |
|
|
pemphigus |
|
|
pemphigus foliaceus |
|
|
pemphigus vulgaris, familial |
|
|
bullous pemphigoid |
|
|