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    EVPL envoplakin [ Homo sapiens (human) ]

    Gene ID: 2125, updated on 3-Nov-2024

    Summary

    Official Symbol
    EVPLprovided by HGNC
    Official Full Name
    envoplakinprovided by HGNC
    Primary source
    HGNC:HGNC:3503
    See related
    Ensembl:ENSG00000167880 MIM:601590; AllianceGenome:HGNC:3503
    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
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    Genomic context

    See EVPL in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76006845..76027306, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76899976..76920440, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74002926..74023387, 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 uncharacterized LOC124904061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9000 Neighboring gene MPRA-validated peak3002 silencer Neighboring gene Sharpr-MPRA regulatory region 2383 Neighboring gene cyclin dependent kinase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74022969-74023856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74030076-74030683 Neighboring gene Sharpr-MPRA regulatory region 345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036239-74036940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036941-74037642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9001 Neighboring gene signal recognition particle 68 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74067885-74068712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74068713-74069540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74070927-74071808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74072691-74073571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74075097-74076094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74076095-74077090 Neighboring gene MPRA-validated peak3003 silencer 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 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

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in epidermis development PubMed 
    involved_in intermediate filament cytoskeleton organization  
    involved_in keratinization  
    involved_in keratinocyte differentiation PubMed 
    involved_in peptide cross-linking PubMed 
    involved_in regulation of antibacterial peptide production  
    involved_in wound healing  
    Component Evidence Code Pubs
    located_in cornified envelope PubMed 
    located_in cornified envelope  
    is_active_in cytoplasm  
    located_in cytosol  
    located_in cytosol  
    located_in desmosome  
    located_in extracellular exosome PubMed 
    colocalizes_with intermediate filament  
    located_in intermediate filament cytoskeleton  
    is_active_in membrane  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/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
      A0AUV5, Q92817
      UniProtKB/TrEMBL
      B7ZLH8
      Related
      ENSP00000301607.3, ENST00000301607.8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76899976..76920440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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