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EVPL envoplakin [ Homo sapiens (human) ]

Gene ID: 2125, updated on 5-Jul-2020

Summary

Official Symbol
EVPLprovided by HGNC
Official Full Name
envoplakinprovided by HGNC
Primary source
HGNC:HGNC:3503
See related
Ensembl:ENSG00000167880 MIM:601590
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EVPK
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]
Expression
Biased expression in skin (RPKM 47.9), esophagus (RPKM 41.4) and 9 other tissues See more
Orthologs

Genomic context

See EVPL in Genome Data Viewer
Location:
17q25.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (76006845..76027306, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74002926..74023533, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TEN1-CDK3 readthrough (NMD candidate) Neighboring gene TEN1 subunit of CST complex Neighboring gene cyclin dependent kinase 3 Neighboring gene signal recognition particle 68 Neighboring gene galanin receptor 2 Neighboring gene zinc activated ion channel Neighboring gene exocyst complex component 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
intermediate filament binding IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
epidermis development TAS
Traceable Author Statement
more info
PubMed 
intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
keratinocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
wound healing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cornified envelope TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
desmosome IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
colocalizes_with intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
envoplakin
Names
210 kDa cornified envelope precursor protein
210 kDa paraneoplastic pemphigus antigen

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051106.1 RefSeqGene

    Range
    5147..25608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320747.2NP_001307676.1  envoplakin isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC143814, BX114092, DA449929, U53786
    Consensus CDS
    CCDS82207.1
    UniProtKB/Swiss-Prot
    Q92817
    UniProtKB/TrEMBL
    B7ZLH8, K7EKI0
    Related
    ENSP00000465630.1, ENST00000586740.1
    Conserved Domains (4) summary
    smart00250
    Location:19161953
    PLEC; Plectin repeat
    COG1196
    Location:9341698
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:228415
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00681
    Location:18791920
    Plectin; Plectin repeat
  2. NM_001988.4NP_001979.2  envoplakin isoform 2

    See identical proteins and their annotated locations for NP_001979.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame slice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC126103, BX114092, DA449929, U53786
    Consensus CDS
    CCDS11737.1
    UniProtKB/Swiss-Prot
    Q92817
    Related
    ENSP00000301607.2, ENST00000301607.7
    Conserved Domains (4) summary
    smart00250
    Location:18941931
    PLEC; Plectin repeat
    COG1196
    Location:9121676
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam00681
    Location:18571898
    Plectin; Plectin repeat
    cl02488
    Location:228415
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    76006845..76027306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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