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Aliases for EVPL Gene

Aliases for EVPL Gene

  • Envoplakin 2 3
  • 210 KDa Cornified Envelope Precursor Protein 3 4
  • 210 KDa Paraneoplastic Pemphigus Antigen 3 4
  • P210 3 4
  • EVPK 3

External Ids for EVPL Gene

Previous GeneCards Identifiers for EVPL Gene

  • GC17P073900
  • GC17M077029
  • GC17M074467
  • GC17M074600
  • GC17M071514
  • GC17M074002
  • GC17M069428

Summaries for EVPL Gene

GeneCards Summary for EVPL Gene

EVPL (Envoplakin) is a Protein Coding gene. Diseases associated with EVPL include follicular dendritic cell sarcoma and dendritic cell sarcoma. Among its related pathways are Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity and protein binding, bridging. An important paralog of this gene is DST.

UniProtKB/Swiss-Prot for EVPL Gene

  • Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments

Gene Wiki entry for EVPL Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EVPL Gene

Genomics for EVPL Gene

Regulatory Elements for EVPL Gene

Genomic Location for EVPL Gene

Start:
76,004,502 bp from pter
End:
76,027,452 bp from pter
Size:
22,951 bases
Orientation:
Minus strand

Genomic View for EVPL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EVPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EVPL Gene

Proteins for EVPL Gene

  • Protein details for EVPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92817-EVPL_HUMAN
    Recommended name:
    Envoplakin
    Protein Accession:
    Q92817
    Secondary Accessions:
    • A0AUV5

    Protein attributes for EVPL Gene

    Size:
    2033 amino acids
    Molecular mass:
    231604 Da
    Quaternary structure:
    • May form a homodimer or a heterodimer with PPL

neXtProt entry for EVPL Gene

Proteomics data for EVPL Gene at MOPED

Post-translational modifications for EVPL Gene

  • Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other envoplakin molecules, to other proteins such as keratin, desmoplakin, periplakin and involucrin, and to lipids like omega-hydroxyceramide (PubMed:9651377).
  • Ubiquitination at Lys1467
  • Modification sites at PhosphoSitePlus

Other Protein References for EVPL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EVPL Gene

Domains for EVPL Gene

Protein Domains for EVPL Gene

Suggested Antigen Peptide Sequences for EVPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92817

UniProtKB/Swiss-Prot:

EVPL_HUMAN :
  • Q92817
Family:
  • Belongs to the plakin or cytolinker family.
Similarity:
  • Contains 7 plectin repeats.
  • Contains 1 spectrin repeat.
genes like me logo Genes that share domains with EVPL: view

No data available for Gene Families for EVPL Gene

Function for EVPL Gene

Molecular function for EVPL Gene

GENATLAS Biochemistry: envoplakin,membrane-associated precursor of the epidermal cornified envelope,210 kDa,plakin family of cell junction proteins,paraneoplastic pemphigus antigen complex, homolog to DSP (see symbol)
UniProtKB/Swiss-Prot Function: Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments
UniProtKB/Swiss-Prot Induction: During differentiation of epidermal keratinocytes

Gene Ontology (GO) - Molecular Function for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 10908733
GO:0019215 intermediate filament binding IEA --
GO:0030674 protein binding, bridging IDA 10908733
genes like me logo Genes that share ontologies with EVPL: view

Phenotypes for EVPL Gene

MGI mutant phenotypes for EVPL:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with EVPL: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EVPL Gene

Localization for EVPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for EVPL Gene

Cell junction, desmosome. Cornified envelope. Cytoplasm, cytoskeleton. Note=Colocalized with DSP at desmosomes and along intermediate filaments.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EVPL Gene COMPARTMENTS Subcellular localization image for EVPL gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 10908733
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0030054 cell junction --
GO:0030057 desmosome IEA --
genes like me logo Genes that share ontologies with EVPL: view

Pathways for EVPL Gene

genes like me logo Genes that share pathways with EVPL: view

Pathways by source for EVPL Gene

1 GeneGo (Thomson Reuters) pathway for EVPL Gene

Gene Ontology (GO) - Biological Process for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS 8707850
GO:0018149 peptide cross-linking IDA 10908733
GO:0030216 keratinocyte differentiation IDA 10908733
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with EVPL: view

Transcripts for EVPL Gene

Unigene Clusters for EVPL Gene

Envoplakin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EVPL Gene

No ASD Table

Relevant External Links for EVPL Gene

GeneLoc Exon Structure for
EVPL
ECgene alternative splicing isoforms for
EVPL

Expression for EVPL Gene

mRNA expression in normal human tissues for EVPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EVPL Gene

This gene is overexpressed in Esophagus - Mucosa (16.1), Skin - Sun Exposed (Lower leg) (9.1), Skin - Not Sun Exposed (Suprapubic) (8.6), and Vagina (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EVPL Gene

SOURCE GeneReport for Unigene cluster for EVPL Gene Hs.500635

mRNA Expression by UniProt/SwissProt for EVPL Gene

Q92817-EVPL_HUMAN
Tissue specificity: Exclusively expressed in stratified squamous epithelia
genes like me logo Genes that share expressions with EVPL: view

Orthologs for EVPL Gene

This gene was present in the common ancestor of animals.

Orthologs for EVPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EVPL 35
  • 98.82 (n)
  • 98.33 (a)
EVPL 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EVPL 35
  • 86.64 (n)
  • 83.92 (a)
EVPL 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 85 (a)
OneToMany
EVPL 35
  • 87.98 (n)
  • 85.85 (a)
mouse
(Mus musculus)
Mammalia Evpl 35
  • 83.6 (n)
  • 82.91 (a)
Evpl 16
Evpl 36
  • 83 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
-- 36
  • 80 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Evpl 35
  • 83.05 (n)
  • 82.43 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 62 (a)
OneToMany
EVPL 35
  • 67.97 (n)
  • 62.67 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia evpl 35
  • 59.15 (n)
  • 53.88 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10086 35
zebrafish
(Danio rerio)
Actinopterygii evpla 35
  • 51.58 (n)
  • 44.63 (a)
evpla 36
  • 44 (a)
ManyToMany
evplb 36
  • 40 (a)
ManyToMany
sbcb742 35
fruit fly
(Drosophila melanogaster)
Insecta shot 36
  • 4 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-10 36
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for EVPL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EVPL Gene

ENSEMBL:
Gene Tree for EVPL (if available)
TreeFam:
Gene Tree for EVPL (if available)

Paralogs for EVPL Gene

Paralogs for EVPL Gene

Selected SIMAP similar genes for EVPL Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EVPL: view

Variants for EVPL Gene

Sequence variations from dbSNP and Humsavar for EVPL Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1076871 -- 76,010,055(-) ATCTC(A/G)GCCCG synonymous-codon, reference
rs1128889 -- 76,006,849(-) CTCCC(C/T)GTGCC utr-variant-3-prime
rs1806914 -- 76,022,559(+) CGGCT(C/G)AGTCC intron-variant
rs1807435 -- 76,029,333(+) tgatt(C/T)gccca upstream-variant-2KB
rs2005637 -- 76,023,726(-) GCTCA(A/G)GCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EVPL Gene

Variant ID Type Subtype PubMed ID
nsv908824 CNV Loss 21882294
nsv908825 CNV Loss 21882294
nsv908826 CNV Loss 21882294
nsv833546 CNV Loss 17160897
dgv3270n71 CNV Loss 21882294
nsv817774 CNV Loss 17921354

Relevant External Links for EVPL Gene

HapMap Linkage Disequilibrium report
EVPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EVPL Gene

Disorders for EVPL Gene

(3) University of Copenhagen DISEASES for EVPL Gene

(10) Novoseek inferred disease relationships for EVPL Gene

Disease -log(P) Hits PubMed IDs
pemphigus 93.3 18
pemphigus foliaceus 88.6 1
pemphigus vulgaris 85.9 1
pemphigoid bullous 85.6 15
palmoplantar keratoderma, epidermolytic 78.5 3
genes like me logo Genes that share disorders with EVPL: view

No data available for UniProtKB/Swiss-Prot for EVPL Gene

Publications for EVPL Gene

  1. Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25. (PMID: 10409435) Risk J.M. … Field J.K. (Genomics 1999) 2 3 4 23
  2. Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. (PMID: 8707850) Ruhrberg C. … Watt F.M. (J. Cell Biol. 1996) 3 4 23
  3. Chromosomal localisation of the human envoplakin gene (EVPL) to the region of the tylosis oesophageal cancer gene (TOCG) on 17q25. (PMID: 8938451) Ruhrberg C. … Watt F.M. (Genomics 1996) 2 3 23
  4. Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. (PMID: 9651377) Marekov L.N. … Steinert P.M. (J. Biol. Chem. 1998) 3 4 23
  5. S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. (PMID: 9115270) Robinson N.A. … Eckert R.L. (J. Biol. Chem. 1997) 3 23

Products for EVPL Gene

Sources for EVPL Gene

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