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Aliases for EVPL Gene

Aliases for EVPL Gene

  • Envoplakin 2 3 5
  • 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 Paraneoplastic Pemphigus and Pemphigus. Among its related pathways are Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity and intermediate filament binding. 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

Enhancers for EVPL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EVPL on UCSC Golden Path with GeneCards custom track

Promoters for EVPL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EVPL on UCSC Golden Path with GeneCards custom track

Genomic Location for EVPL Gene

Chromosome:
17
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

Genes around EVPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EVPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.

    Three dimensional structures from OCA and Proteopedia for EVPL Gene

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 Lys 1467
  • Modification sites at PhosphoSitePlus

Other Protein References for EVPL Gene

No data available for DME Specific Peptides for EVPL Gene

Domains & Families for EVPL Gene

Gene Families 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 :
  • Belongs to the plakin or cytolinker family.
  • Contains 7 plectin repeats.
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

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 IEA,IDA 10908733
genes like me logo Genes that share ontologies with EVPL: view
genes like me logo Genes that share phenotypes with EVPL: view

Animal Models for EVPL Gene

MGI Knock Outs for EVPL:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
nucleus 3
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EVPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with EVPL: view

Pathways & Interactions 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

None

No data available for SIGNOR curated interactions for EVPL Gene

Drugs & Compounds for EVPL Gene

No Compound Related Data Available

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 (x16.1), Skin - Sun Exposed (Lower leg) (x9.1), Skin - Not Sun Exposed (Suprapubic) (x8.6), and Vagina (x5.7).

Protein differential expression in normal tissues from HIPED for EVPL Gene

This gene is overexpressed in Cervix (33.1), Esophagus (10.6), and Saliva (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EVPL: view

Primer Products

No data available for Protein tissue co-expression partners for EVPL Gene

Orthologs for EVPL Gene

This gene was present in the common ancestor of animals.

Orthologs for EVPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EVPL 35
  • 86.64 (n)
  • 83.92 (a)
EVPL 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia EVPL 35
  • 87.98 (n)
  • 85.85 (a)
-- 36
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Evpl 35
  • 83.6 (n)
  • 82.91 (a)
Evpl 16
Evpl 36
  • 83 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia EVPL 35
  • 98.82 (n)
  • 98.33 (a)
EVPL 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Evpl 35
  • 83.05 (n)
  • 82.43 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
-- 36
  • 80 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves EVPL 35
  • 67.97 (n)
  • 62.67 (a)
-- 36
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia evpl 35
  • 59.15 (n)
  • 53.88 (a)
zebrafish
(Danio rerio)
Actinopterygii evpla 35
  • 51.58 (n)
  • 44.63 (a)
sbcb742 35
evpla 36
  • 44 (a)
ManyToMany
evplb 36
  • 40 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10086 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

(2) 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
VAR_024579 -
rs2071192 - 76,018,587(-) GCTGC(A/G)GGGTG reference, missense
rs10445216 - 76,022,516(+) GCCCG(C/T)ACTGG reference, missense
rs7342883 - 76,007,765(+) GCTGG(A/G/T)AGAGA reference, missense
rs1076871 -- 76,010,055(-) ATCTC(A/G)GCCCG reference, synonymous-codon

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

Variation tolerance for EVPL Gene

Residual Variation Intolerance Score: 95.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.22; 88.04% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EVPL Gene

Disorders for EVPL Gene

MalaCards: The human disease database

(7) MalaCards diseases for EVPL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paraneoplastic pemphigus
pemphigus
pemphigus foliaceus
  • pf
bullous pemphigoid
  • benign pemphigus
palmoplantar keratoderma, epidermolytic
  • palmoplantar keratoderma, nonepidermolytic
- elite association - COSMIC cancer census association via MalaCards
Search EVPL in MalaCards View complete list of genes associated with diseases

Relevant External Links for EVPL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EVPL
genes like me logo Genes that share disorders with EVPL: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. 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
  3. Detection of anti-envoplakin and anti-periplakin autoantibodies by ELISA in patients with paraneoplastic pemphigus. (PMID: 18820940) Huang Y. … Zhu X. (Arch. Dermatol. Res. 2009) 3 23
  4. Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas. (PMID: 15756445) Iwaya T. … Masuda T. (Oncol. Rep. 2005) 3 23
  5. Co-assembly of envoplakin and periplakin into oligomers and Ca(2+)-dependent vesicle binding: implications for cornified cell envelope formation in stratified squamous epithelia. (PMID: 15033990) Kalinin A.E. … Steven A.C. (J. Biol. Chem. 2004) 3 23

Products for EVPL Gene

Sources for EVPL Gene

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