• Gene id: 2125

Gene Summary

• Gene Symbol: EVPL   Gene   UCSC   Ensembl
• Aliases: EVPK
• Gene name: envoplakin
• Alternate names: envoplakin, 210 kDa cornified envelope precursor protein, 210 kDa paraneoplastic pemphigus antigen,
• Gene location: 17q25.1 (76027305: 76006844)     Exons: 22     NC_000017.11
• Gene summary(Entrez): 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 bo
• OMIM: 602141

Protein Summary

• Protein general information: Q92817  
  • Name: Envoplakin (210 kDa cornified envelope precursor protein) (210 kDa paraneoplastic pemphigus antigen) (p210)
  • Length: 2033  
  • Mass: 231604
  • Tissue specificity: Exclusively expressed in stratified squamous epithelia.
• Sequence:

  MFKGLSKGSQGKGSPKGSPAKGSPKGSPSRHSRAATQELALLISRMQANADQVERDILETQKRLQQDRLNSEQSQ
  ALQHQQETGRSLKEAEVLLKDLFLDVDKARRLKHPQAEEIEKDIKQLHERVTQECAEYRALYEKMVLPPDVGPRV
  DWARVLEQKQKQVCAGQYGPGMAELEQQIAEHNILQKEIDAYGQQLRSLVGPDAATIRSQYRDLLKAASWRGQSL
  GSLYTHLQGCTRQLSALAEQQRRILQQDWSDLMADPAGVRREYEHFKQHELLSQEQSVNQLEDDGERMVELRHPA
  VGPIQAHQEALKMEWQNFLNLCICQETQLQHVEDYRRFQEEADSVSQTLAKLNSNLDAKYSPAPGGPPGAPTELL
  QQLEAEEKRLAVTERATGDLQRRSRDVAPLPQRRNPPQQPLHVDSICDWDSGEVQLLQGERYKLVDNTDPHAWVV
  QGPGGETKRAPAACFCIPAPDPDAVARASRLASELQALKQKLATVQSRLKASAVESLRPSQQAPSGSDLANPQAQ
  KLLTQMTRLDGDLGQIERQVLAWARAPLSRPTPLEDLEGRIHSHEGTAQRLQSLGTEKETAQKECEAFLSTRPVG
  PAALQLPVALNSVKNKFSDVQVLCSLYGEKAKAALDLERQIQDADRVIRGFEATLVQEAPIPAEPGALQERVSEL
  QRQRRELLEQQTCVLRLHRALKASEHACAALQNNFQEFCQDLPRQQRQVRALTDRYHAVGDQLDLREKVVQDAAL
  TYQQFKNCKDNLSSWLEHLPRSQVRPSDGPSQIAYKLQAQKRLTQEIQSRERDRATASHLSQALQAALQDYELQA
  DTYRCSLEPTLAVSAPKRPRVAPLQESIQAQEKNLAKAYTEVAAAQQQLLQQLEFARKMLEKKELSEDIRRTHDA
  KQGSESPAQAGRESEALKAQLEEERKRVARVQHELEAQRSQLLQLRTQRPLERLEEKEVVEFYRDPQLEGSLSRV
  KAQVEEEGKRRAGLQADLEVAAQKVVQLESKRKTMQPHLLTKEVTQVERDPGLDSQAAQLRIQIQQLRGEDAVIS
  ARLEGLKKELLALEKREVDVKEKVVVKEVVKVEKNLEMVKAAQALRLQMEEDAARRKQAEEAVAKLQARIEDLER
  AISSVEPKVIVKEVKKVEQDPGLLQESSRLRSLLEEERTKNATLARELSDLHSKYSVVEKQRPKVQLQERVHEIF
  QVDPETEQEITRLKAKLQEMAGKRSGVEKEVEKLLPDLEVLRAQKPTVEYKEVTQEVVRHERSPEVLREIDRLKA
  QLNELVNSHGRSQEQLIRLQGERDEWRRERAKVETKTVSKEVVRHEKDPVLEKEAERLRQEVREAAQKRRAAEDA
  VYELQSKRLLLERRKPEEKVVVQEVVVTQKDPKLREEHSRLSGSLDEEVGRRRQLELEVQQLRAGVEEQEGLLSF
  QEDRSKKLAVERELRQLTLRIQELEKRPPTVQEKIIMEEVVKLEKDPDLEKSTEALRWDLDQEKTQVTELNRECK
  NLQVQIDVLQKAKSQEKTIYKEVIRVQKDRVLEDERARVWEMLNRERTARQAREEEARRLRERIDRAETLGRTWS
  REESELQRARDQADQECGRLQQELRALERQKQQQTLQLQEESKLLSQKTESERQKAAQRGQELSRLEAAILREKD
  QIYEKERTLRDLHAKVSREELSQETQTRETNLSTKISILEPETGKDMSPYEAYKRGIIDRGQYLQLQELECDWEE
  VTTSGPCGEESVLLDRKSGKQYSIEAALRCRRISKEEYHLYKDGHLPISEFALLVAGETKPSSSLSIGSIISKSP
  LASPAPQSTSFFSPSFSLGLGDDSFPIAGIYDTTTDNKCSIKTAVAKNMLDPITGQKLLEAQAATGGIVDLLSRE
  RYSVHKAMERGLIENTSTQRLLNAQKAFTGIEDPVTKKRLSVGEAVQKGWMPRESVLPHLQVQHLTGGLIDPKRT
  GRIPIQQALLSGMISEELAQLLQDESSYEKDLTDPISKERLSYKEAMGRCRKDPLSGLLLLPAALEGYRCYRSAS
  PTVPRSLR

• Structural information:
  • Protein Domains: (413..47-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR041615  IPR030460  IPR035915  IPR001101  IPR001452   IPR018159  
  • Prosite: PS50002
  • PDB: 4QMD
  • PDBsum: 4QMD
  • STRING: ENSP00000301607
• Other Databases: GeneCards:  EVPL  Malacards:  EVPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activity	IBA	molecular function
GO:0042060	wound healing	IBA	biological process
GO:0045104	intermediate filament cytoskeleton organization	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005882	intermediate filament	IBA	colocalizes with
GO:0016020	membrane	IBA	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0008544	epidermis development	IEA	biological process
GO:0045104	intermediate filament cytoskeleton organization	IEA	biological process
GO:0001533	cornified envelope	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0019215	intermediate filament binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031424	keratinization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005198	structural molecule activity	TAS	molecular function
GO:0008544	epidermis development	TAS	biological process
GO:0001533	cornified envelope	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0030057	desmosome	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0001533	cornified envelope	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0001533	cornified envelope	IDA	cellular component
GO:0030216	keratinocyte differentiation	IDA	biological process
GO:0018149	peptide cross-linking	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq