Jump to content

Epiplakin

From Wikipedia, the free encyclopedia

EPPK1
Identifiers
AliasesEPPK1, EPIPL, EPIPL1, epiplakin 1
External IDsOMIM: 607553; MGI: 2386306; HomoloGene: 20006; GeneCards: EPPK1; OMA:EPPK1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031308

NM_144848

RefSeq (protein)

NP_112598

NP_659097

Location (UCSC)Chr 8: 143.86 – 143.88 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Epiplakin is a protein that in humans is encoded by the EPPK1 gene.[4][5][6] It belongs to the family of plakin proteins and is found in the human epidermis.[4] It consists of 13 domains which are all similar to the B domain located at the C terminus of the human epidermal and cardiac muscle protein desmoplakin.[4] The domains in epiplakin range from 46 to 70% in their homology to this B domain in desmoplakin.[7] It was first identified as an autoantigen in a person who suffers from a rare autoimmune skin disease.[4] Epiplakin was sequenced to have a total of 5065 amino acid residues and based on its amino acid composition it has a molecular weight of about 552 kDa.[4] The EPPK1 gene is notable for a lack of introns over its coding region - its entire 15 kbp coding region is encoded by a single exon.[8]

Epiplakin has been found to bind to keratin filaments and may contribute to inhibiting the growth of the filaments. This is suspected due to keratin bound epiplakin being found primarily at branch-points and end-points of the keratin filaments.[9] Blocking the expression of epiplakin in cultured corneal epithelial cells via siRNA has been associated with faster wound closure and faster migration of corneal cells.[10] This may be due to the loss of epiplakin leading to a modification of the cytoskeleton in epithelial cells.[10]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000261150Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ a b c d e Fujiwara S, Takeo N, Otani Y, Parry DA, Kunimatsu M, Lu R, et al. (April 2001). "Epiplakin, a novel member of the Plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization". The Journal of Biological Chemistry. 276 (16): 13340–7. doi:10.1074/jbc.M011386200. PMID 11278896.
  5. ^ Jang SI, Kalinin A, Takahashi K, Marekov LN, Steinert PM (February 2005). "Characterization of human epiplakin: RNAi-mediated epiplakin depletion leads to the disruption of keratin and vimentin IF networks". Journal of Cell Science. 118 (Pt 4): 781–93. doi:10.1242/jcs.01647. PMID 15671067. S2CID 38183338.
  6. ^ "Entrez Gene: EPPK1 epiplakin 1".
  7. ^ Takeo N, Wang W, Matsuo N, Sumiyoshi H, Yoshioka H, Fujiwara S (November 2003). "Structure and heterogeneity of the human gene for epiplakin (EPPK1)". The Journal of Investigative Dermatology. 121 (5): 1224–6. doi:10.1046/j.1523-1747.2003.12550_5.x. PMID 14708632.
  8. ^ Stewart S (2008). A short guide to the human genome. Cold Spring Harbor Laboratory Press. ISBN 978-0-87969-791-4. OCLC 301791139.
  9. ^ Wang W, Sumiyoshi H, Yoshioka H, Fujiwara S (August 2006). "Interactions between epiplakin and intermediate filaments". The Journal of Dermatology. 33 (8): 518–27. doi:10.1111/j.1346-8138.2006.00127.x. PMID 16923132. S2CID 25372989.
  10. ^ a b Kokado M, Okada Y, Miyamoto T, Yamanaka O, Saika S (May 2016). "Effects of epiplakin-knockdown in cultured corneal epithelial cells". BMC Research Notes. 9 (1): 278. doi:10.1186/s13104-016-2082-7. PMC 4873999. PMID 27206504.

Further reading

[edit]