EVPL envoplakin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Frequency of Envoplakin and Type VII Collagen Autoantibodies and Co-occurrence with Other Skin-specific Autoantibodies in HIV-infected Patients and Uninfected Controls.
Title: Frequency of Envoplakin and Type VII Collagen Autoantibodies and Co-occurrence with Other Skin-specific Autoantibodies in HIV-infected Patients and Uninfected Controls.
N-terminus extremities of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus
Title: Extremities of the N-terminus of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus.
We confirmed associations with papillary thyroid cancer and SNPs in FOXE1/HEMGN, SERPINA5 (rs2069974), FTO (rs8047395), EVPL (rs2071194), TICAM1 (rs8120) and SCARB1 (rs11057820) genes. We found associations with SNPs in FOXE1, SERPINA5, FTO, TICAM1 and HSPA6 and and follicular thyroid cancer
Title: Selected single-nucleotide polymorphisms in FOXE1, SERPINA5, FTO, EVPL, TICAM1 and SCARB1 are associated with papillary and follicular thyroid cancer risk: replication study in a German population.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
autoantibodies are detected in patients with paraneoplastic pemphigus
Title: Detection of anti-envoplakin and anti-periplakin autoantibodies by ELISA in patients with paraneoplastic pemphigus.
EVPL might not be the target gene responsible for oesophageal cancer, despite its strong candidacy in terms of character and localization
Title: Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas.
envoplakin and periplakin bind to the plasma membrane upon elevation of intracellular [Ca(2+)] in differentiating keratinocytes, where they serve as a scaffold for cornified cell envelope assembly
Title: Co-assembly of envoplakin and periplakin into oligomers and Ca(2+)-dependent vesicle binding: implications for cornified cell envelope formation in stratified squamous epithelia.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of antibacterial peptide production	IEA Inferred from Electronic Annotation more info
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: envoplakin

Names: 210 kDa cornified envelope precursor protein; 210 kDa paraneoplastic pemphigus antigen

NCBI Reference Sequences (RefSeq)

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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

NG_051106.1 RefSeqGene

Range

5147..25608

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001320747.2 → NP_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:1916 → 1953

PLEC; Plectin repeat

COG1196
Location:934 → 1698

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00176
Location:228 → 415

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:1879 → 1920

Plectin; Plectin repeat
NM_001988.4 → NP_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:1894 → 1931

PLEC; Plectin repeat

COG1196
Location:912 → 1676

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam00681
Location:1857 → 1898

Plectin; Plectin repeat

cl02488
Location:228 → 415

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; ...