Evpl envoplakin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Evplprovided by MGI
Official Full Name: envoplakinprovided by MGI
Primary source: MGI:MGI:107507
See related: Ensembl:ENSMUSG00000034282 AllianceGenome:MGI:107507
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable structural molecule activity. Acts upstream of or within regulation of antibacterial peptide production. Is active in cornified envelope. Orthologous to human EVPL (envoplakin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in stomach adult (RPKM 13.4), bladder adult (RPKM 8.5) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 81.02 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (116111385..116128983, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (116220559..116238165, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Thus, combined loss of the cornified envelope proteins not only impairs the epidermal barrier, but also changes the composition of T cell subpopulations in the skin.
Title: Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
although envoplakin is part of the scaffolding on which the epidermal cornified envelope is assembled, it is not essential for envelope formation or epidermal barrier function.
Title: Gene targeting of envoplakin, a cytoskeletal linker protein and precursor of the epidermal cornified envelope.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in peptide cross-linking	IEA Inferred from Electronic Annotation more info
involved_in peptide cross-linking	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of antibacterial peptide production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology 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-kD protein; 210kDa protein; p210

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.

mRNA and Protein(s)

NM_025276.3 → NP_079552.3 envoplakin

See identical proteins and their annotated locations for NP_079552.3

Status: VALIDATED

Source sequence(s)

AL669925

Consensus CDS

CCDS25661.1

UniProtKB/Swiss-Prot

B1AU57, Q9D952

Related

ENSMUSP00000037850.4, ENSMUST00000037007.4

Conserved Domains (8) summary

smart00250
Location:1895 → 1932

PLEC; Plectin repeat

TIGR02168
Location:851 → 1646

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00681
Location:1858 → 1899

Plectin; Plectin repeat

pfam13514
Location:473 → 1012

AAA_27; AAA domain

cd16269
Location:1639 → 1653

GBP_C; coiled coil [structural motif]

cl02488
Location:228 → 358

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; ...

cl02565
Location:580 → 715

RGS; Regulator of G protein signaling (RGS) domain superfamily

cl20817
Location:1561 → 1657

GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

116111385..116128983 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156324.1 → XP_036012217.1 envoplakin isoform X2

Conserved Domains (7) summary

smart00250
Location:1952 → 1989

PLEC; Plectin repeat

COG1196
Location:724 → 1067

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

TIGR02168
Location:908 → 1703

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00681
Location:1915 → 1954

Plectin; Plectin repeat

pfam17902
Location:404 → 468

SH3_10; SH3 domain

cl02488
Location:228 → 358

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; ...

cl02565
Location:637 → 781

RGS; Regulator of G protein signaling (RGS) domain superfamily
XM_030245549.2 → XP_030101409.1 envoplakin isoform X3

Conserved Domains (6) summary

smart00250
Location:1924 → 1961

PLEC; Plectin repeat

TIGR02168
Location:880 → 1675

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cl02488
Location:302 → 387

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:1887 → 1927

Plectin; Plectin repeat

pfam17902
Location:433 → 497

SH3_10; SH3 domain

cl02565
Location:609 → 744

RGS; Regulator of G protein signaling (RGS) domain superfamily
XM_036156323.1 → XP_036012216.1 envoplakin isoform X1

Conserved Domains (7) summary

smart00250
Location:1981 → 2018

PLEC; Plectin repeat

COG1196
Location:753 → 1096

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

TIGR02168
Location:937 → 1732

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00681
Location:1944 → 1983

Plectin; Plectin repeat

pfam17902
Location:433 → 497

SH3_10; SH3 domain

cl02488
Location:302 → 387

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; ...

cl02565
Location:666 → 810

RGS; Regulator of G protein signaling (RGS) domain superfamily