Evpl MGI Mouse Gene Detail - MGI:107507

Symbol

Evpl
Name

envoplakin
Synonyms

210kDa protein

Feature Type

protein coding gene
IDs

MGI:107507
NCBI Gene: 14027
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr11:116111385-116128903 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 81.02 cM, cytoband E1
Mapping Data

2 experiments

SNPs within 2kb

605 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107507	protein coding gene	Chr11:116111385-116128983 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019420	protein coding gene	Chr11:120318483-120335986 (-)
A/J	MGP_AJ_G0019389	protein coding gene	Chr11:115060060-115078625 (-)
AKR/J	MGP_AKRJ_G0019359	protein coding gene	Chr11:118489447-118508240 (-)
BALB/cJ	MGP_BALBcJ_G0019363	protein coding gene	Chr11:115471618-115490044 (-)
C3H/HeJ	MGP_C3HHeJ_G0019169	protein coding gene	Chr11:118840879-118858816 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019813	protein coding gene	Chr11:124006940-124024439 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017436	protein coding gene	Chr11:112071742-112089320 (-)
CAST/EiJ	MGP_CASTEiJ_G0018724	protein coding gene	Chr11:120200991-120220213 (-)
CBA/J	MGP_CBAJ_G0019141	protein coding gene	Chr11:128894560-128912050 (-)
DBA/2J	MGP_DBA2J_G0019252	protein coding gene	Chr11:114476951-114494610 (-)
FVB/NJ	MGP_FVBNJ_G0019244	protein coding gene	Chr11:113990837-114008644 (-)
LP/J	MGP_LPJ_G0019322	protein coding gene	Chr11:120697660-120716848 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019277	protein coding gene	Chr11:127978681-127996561 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019851	protein coding gene	Chr11:119145681-119166198 (-)
PWK/PhJ	MGP_PWKPhJ_G0018488	protein coding gene	Chr11:115810341-115828916 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018281	protein coding gene	Chr11:118901137-118918363 (-)
WSB/EiJ	MGP_WSBEiJ_G0018776	protein coding gene	Chr11:119117100-119134678 (-)

Human Ortholog

EVPL, envoplakin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EVPL, envoplakin
Synonyms

EVPK
Links

HGNC:3503

NCBI Gene ID: 2125

neXtProt AC: NX_Q92817

UniProt: Q92817
Chr Location

17q25.1; chr17:76004502-76027306 (-) GRCh38

MGI Vertebrate Homology

Evpl stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EVPL
Gene Tree

Evpl

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

5
Endonuclease-mediated

2
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

68 strains or lines available

Mice homozygous for a targeted deletion of this gene are viable and fertile. Surprisingly, cornified envelope assembly is not inhibited and adult homozygotes show no obvious pathological phenotype in skin or other epithelia, despite a slight delay in barrier acquisition during embryonic development.

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All GO Annotations

18
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

29
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase evpl

ZFIN evpla, evplb

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All Sequences

43
RefSeq

8
UniProt

3
CCDS

CCDS25661.1

Ensembl

ENSMUSG00000034282 (Evidence)
NCBI Gene

14027

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034282	Ensembl Gene Model \| MGI Sequence Detail	17519	C57BL/6J	± kb
transcript	ENSMUST00000037007	Ensembl \| MGI Sequence Detail	6384	Not Applicable
polypeptide	ENSMUSP00000037850	Ensembl \| MGI Sequence Detail	2035	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000007240 envoplakin

(term hierarchy)
InterPro Domains

IPR041615 Desmoplakin, SH3 domain

IPR043197 Plakin

IPR035915 Plakin repeat superfamily

IPR049538 Plectin-like, spectrin-like repeat

IPR001101 Plectin repeat

IPR001452 SH3 domain

IPR018159 Spectrin/alpha-actinin
GlyGen

Q9D952 1 site, 1 O-linked glycan (1 site)

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All nucleic 30

Genomic 1

cDNA 29

Microarray probesets 3

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MGD-MRK-36077

Summaries

All 37

Developmental Gene Expression 1

Gene Ontology 8

Phenotypes 8
Earliest

J:34569 Ruhrberg C, et al., Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. J Cell Biol. 1996 Aug;134(3):715-29
Latest

J:277277 Zieman AG, et al., Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma. Hum Mol Genet. 2019 Jul 1;28(13):2255-2270

TSS for Evpl:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr111893	Chr11:116128909-116128923 (-)	-13 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24