PPHLN1 explained

Periphilin-1 is a protein that in humans is encoded by the PPHLN1 gene.^[1]

The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis.

This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed.

Further reading

• Zhang QH, Ye M, Wu XY, etal . Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. . Genome Res. . 10 . 10 . 1546–60 . 2001 . 11042152 . 10.1101/gr.140200 . 310934 .
• Linē A, Stengrēvics A, Slucka Z, etal . Serological identification and expression analysis of gastric cancer-associated genes. . Br. J. Cancer . 86 . 11 . 1824–30 . 2002 . 12087473 . 10.1038/sj.bjc.6600321 . 2375403 .
• Kazerounian S, Uitto J, Aho S . Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin. . Exp. Dermatol. . 11 . 5 . 428–38 . 2003 . 12366696 . 10.1034/j.1600-0625.2002.110506.x . 25735126 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Kazerounian S, Aho S . Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope. . J. Biol. Chem. . 278 . 38 . 36707–17 . 2003 . 12853457 . 10.1074/jbc.M303896200 . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Goehler H, Lalowski M, Stelzl U, etal . A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. . Mol. Cell . 15 . 6 . 853–65 . 2004 . 15383276 . 10.1016/j.molcel.2004.09.016 . free .
• Kurita M, Suzuki H, Masai H, etal . Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest. . Biochem. Biophys. Res. Commun. . 324 . 2 . 554–61 . 2004 . 15474462 . 10.1016/j.bbrc.2004.09.083 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Mizrachi-Koren M, Geiger D, Indelman M, etal . Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. . J. Invest. Dermatol. . 125 . 3 . 456–62 . 2005 . 16117785 . 10.1111/j.0022-202X.2005.23777.x . free .
• Beausoleil SA, Villén J, Gerber SA, etal . A probability-based approach for high-throughput protein phosphorylation analysis and site localization. . Nat. Biotechnol. . 24 . 10 . 1285–92 . 2006 . 16964243 . 10.1038/nbt1240 . 14294292 .
• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .

Notes and References

1. Web site: Entrez Gene: PPHLN1 periphilin 1.