EVPL envoplakin [Homo sapiens] - Gene

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Summary

Official Symbol: EVPLprovided by HGNC
Official Full Name: envoplakinprovided by HGNC
Primary source: HGNC:3503
See related: Ensembl:ENSG00000167880; HPRD:03352; MIM:601590
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EVPK

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Genomic context

Location :: 17q25

Sequence :: Chromosome: 17; NC_000017.10 (74002927..74023507, complement)

See EVPL in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q92817	P01040	CSTA	HPRD	PubMed
Q92817	P15924	DSP	HPRD	PubMed
Q92817	P07476	IVL	HPRD	PubMed
Q92817	P04264	KRT1	HPRD	PubMed
Q92817	P13645	KRT10	HPRD	PubMed
Q92817	P35908	KRT2	HPRD	PubMed
Q92817	P13647	KRT5	HPRD	PubMed
Q92817	P23490	LOR	HPRD	PubMed
Q92817	P19957	PI3	HPRD	PubMed
Q92817	O60437	PPL	HPRD	PubMed
Q92817	Q9UIG4	PSORS1C2	HPRD	PubMed
Q92817	P35326	SPRR2A	HPRD	PubMed
Q92817	Q9UBC9	SPRR3	HPRD	PubMed
BioGRID:108426	BioGRID:119982	PLEKHA5	BioGRID	PubMed	Two-hybrid
BioGRID:108426	BioGRID:111488	PPL	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:108426	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein binding, bridging	IDA Inferred from Direct Assay more info	PubMed
structural molecule activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
epidermis development	TAS Traceable Author Statement more info	PubMed
keratinization	IEA Inferred from Electronic Annotation more info
keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
cornified envelope	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
desmosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: envoplakin

Names: envoplakin; p210; 210 kDa paraneoplastic pemphigus antigen; 210 kDa cornified envelope precursor protein

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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.

mRNA and Protein(s)

NM_001988.2 → NP_001979.2 envoplakin

Status: VALIDATED

Source sequence(s)

BC126103, BP353801, U53786

Consensus CDS

CCDS11737.1

UniProtKB/Swiss-Prot

Q92817

Related

ENSP00000301607, ENST00000301607

Conserved Domains (3) summary

COG1196
Location:1164 – 1516
Blast Score: 130

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:237 – 330
Blast Score: 99

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; ...

cl02531
Location:1856 – 1900
Blast Score: 138

Plectin; Plectin repeat

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

74002927..74023507, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

69428533..69449119, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC040980.14 (46220..66670)	None
genomic	CH471099.1	EAW89356.1
		EAW89357.1
genomic	U72849.1	AAD00186.1
mRNA	AK290333.1	BAF83022.1
mRNA	BC126103.1	AAI26104.1
mRNA	BC126105.1	AAI26106.1
mRNA	BC143813.1	None
mRNA	BC143814.1	AAI43815.1
mRNA	BP353801.1	None
mRNA	U53786.1	AAC64662.1